{"id":7782,"date":"2016-03-24T13:10:26","date_gmt":"2016-03-24T12:10:26","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/en\/ag-wollnik\/"},"modified":"2026-01-26T13:45:17","modified_gmt":"2026-01-26T12:45:17","slug":"wollnik-research-group","status":"publish","type":"page","link":"https:\/\/www.humangenetik-umg.de\/en\/research\/wollnik-research-group\/","title":{"rendered":"Wollnik Research Group"},"content":{"rendered":"<div class=\"wpb-content-wrapper\">[vc_row attached=&#8221;true&#8221; padding=&#8221;2&#8243;][vc_column][vc_empty_space height=&#8221;50&#8243;][vc_column_text align=&#8221;center&#8221;]\n<h1 style=\"text-align: center;\"><span style=\"color: #ff9900;\">Wollnik Research Group<br \/>\n<\/span><\/h1>\n[\/vc_column_text][vc_empty_space][vc_row_inner][vc_column_inner width=&#8221;1\/3&#8243;][vc_column_text css=&#8221;.vc_custom_1756471579797{margin-bottom: 0px !important;}&#8221;]\n<p style=\"text-align: left;\"><strong>Halima Alachram<br \/>\n<\/strong>Bioinformatics scientist<\/p>\n<p style=\"text-align: left;\"><strong>Carolin Argyriou<br \/>\n<\/strong>Technical assistant<\/p>\n<p style=\"text-align: left;\"><strong>Rozhin Bayati<br \/>\n<\/strong>PhD student<\/p>\n<p style=\"text-align: left;\"><strong>Nina B\u00f6gershausen<br \/>\n<\/strong>MD, PostDoc<\/p>\n<p style=\"text-align: left;\"><strong>Karin Bo\u00df<br \/>\n<\/strong>Scientific coordinator<\/p>\n[\/vc_column_text][\/vc_column_inner][vc_column_inner width=&#8221;1\/3&#8243;][vc_column_text css=&#8221;.vc_custom_1756471555234{margin-bottom: 0px !important;}&#8221;]\n<p style=\"text-align: left;\"><strong>Alisa Fedorenko<br \/>\n<\/strong>PhD student<\/p>\n<p style=\"text-align: left;\"><strong>Marianne Gaubert<br \/>\n<\/strong>PhD student<\/p>\n<p style=\"text-align: left;\"><strong>Yun Li<br \/>\n<\/strong>MD, Head of MM Team<\/p>\n<p style=\"text-align: left;\"><strong>Christian M\u00fcller<br \/>\n<\/strong>Technical assistant<\/p>\n<p style=\"text-align: left;\"><strong>Julia Schmidt<br \/>\n<\/strong>MD, PostDoc<\/p>\n[\/vc_column_text][\/vc_column_inner][vc_column_inner width=&#8221;1\/3&#8243;][vc_column_text css=&#8221;.vc_custom_1724055477254{margin-bottom: 0px !important;}&#8221;]\n<p style=\"text-align: left;\"><strong>Hannah Taddiken<br \/>\n<\/strong>Trainee biological lab technician<\/p>\n<p style=\"text-align: left;\"><strong>Alexander Wolff<br \/>\n<\/strong>Bioinformatics scientist<\/p>\n<p style=\"text-align: left;\"><strong>G\u00f6khan Yigit<br \/>\n<\/strong>PostDoc, Head of lab<\/p>\n<p style=\"text-align: left;\"><strong>Bernd Wollnik<br \/>\n<\/strong>Group leader<\/p>\n[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][vc_empty_space height=&#8221;80&#8243;][\/vc_column][\/vc_row][vc_row fullwidth=&#8221;true&#8221; fullwidth_content=&#8221;false&#8221; css=&#8221;.vc_custom_1476449324164{border-top-width: 0px !important;border-right-width: 0px !important;border-bottom-width: 0px !important;background-color: #ff9900 !important;border-right-color: #ffffff !important;border-right-style: solid !important;border-top-color: #ffffff !important;border-top-style: solid !important;border-bottom-color: #ffffff !important;border-bottom-style: solid !important;}&#8221; el_class=&#8221;ankernavigation-dark&#8221;][vc_column width=&#8221;1\/3&#8243; el_class=&#8221;anker-first&#8221;][mk_fancy_title color=&#8221;#ffffff&#8221; size=&#8221;30&#8243; font_family=&#8221;none&#8221; align=&#8221;center&#8221; animation=&#8221;scale-up&#8221;]<a href=\"#focus\">Focus<\/a>[\/mk_fancy_title][\/vc_column][vc_column width=&#8221;1\/3&#8243; el_class=&#8221;anker-middle&#8221;][mk_fancy_title color=&#8221;#ffffff&#8221; size=&#8221;30&#8243; font_family=&#8221;none&#8221; align=&#8221;center&#8221; animation=&#8221;scale-up&#8221;]<a href=\"#projects\">Projects<\/a>[\/mk_fancy_title][\/vc_column][vc_column width=&#8221;1\/3&#8243; el_class=&#8221;anker-middle&#8221;][mk_fancy_title color=&#8221;#ffffff&#8221; size=&#8221;30&#8243; font_family=&#8221;none&#8221; align=&#8221;center&#8221; animation=&#8221;scale-up&#8221;]<a href=\"#publications\">Publications<\/a>[\/mk_fancy_title][\/vc_column][\/vc_row][mk_page_section min_height=&#8221;0&#8243; padding_top=&#8221;0&#8243; padding_bottom=&#8221;0&#8243; section_id=&#8221;focus&#8221; sidebar=&#8221;sidebar-1&#8243;][vc_column][vc_empty_space height=&#8221;100&#8243;][vc_column_text]\n<h2 style=\"text-align: center;\"><span style=\"color: #ff9900;\">Focus<\/span><\/h2>\n[\/vc_column_text][\/vc_column][\/mk_page_section][mk_page_section sidebar=&#8221;sidebar-1&#8243;][vc_column][vc_row_inner attached=&#8221;true&#8221; css=&#8221;.vc_custom_1473681486579{padding-top: 3px !important;padding-right: 3px !important;padding-bottom: 3px !important;padding-left: 3px !important;}&#8221;][vc_column_inner][vc_empty_space][mk_custom_list icon_color=&#8221;#ff9900&#8243; el_class=&#8221;custom-list&#8221;]\n<ul>\n<li><a style=\"text-decoration: none;\" href=\"#progeroid\">Rare congenital syndromes with premature aging (progeroid syndromes)<\/a><\/li>\n<li><a style=\"text-decoration: none;\" href=\"#instability\">Genomic instability<\/a><\/li>\n<li><a style=\"text-decoration: none;\" href=\"#aging\">Molecular and cellular mechanisms of aging<\/a><\/li>\n<li><a style=\"text-decoration: none;\" href=\"#editing\">Therapeutic genome editing in genetic heart diseases<\/a><\/li>\n<li><a style=\"text-decoration: none;\" href=\"#ngs\">NGS-based approaches to identify novel genes related to rare diseases<\/a><\/li>\n<li><a style=\"text-decoration: none;\" href=\"#mbexc\">Cluster of Excellence MBExC<\/a><\/li>\n<li><a style=\"text-decoration: none;\" href=\"#insightrp2\">InsightRP2: Establishing novel therapeutic approaches for <em>RP2<\/em>-associated retinitis pigmentosa<\/a><\/li>\n<\/ul>\n[\/mk_custom_list][\/vc_column_inner][\/vc_row_inner][\/vc_column][\/mk_page_section][mk_page_section min_height=&#8221;0&#8243; padding_top=&#8221;0&#8243; padding_bottom=&#8221;0&#8243; section_id=&#8221;projects&#8221; sidebar=&#8221;sidebar-1&#8243;][vc_column][vc_empty_space height=&#8221;100&#8243;][vc_column_text]\n<h2 style=\"text-align: center;\"><span style=\"color: #ff9900;\">Projects<\/span><\/h2>\n[\/vc_column_text][mk_padding_divider size=&#8221;32&#8243;][\/vc_column][\/mk_page_section][mk_page_section section_id=&#8221;progeroid&#8221; sidebar=&#8221;sidebar-1&#8243;][vc_column width=&#8221;2\/3&#8243;][vc_empty_space height=&#8221;30&#8243;][vc_column_text el_class=&#8221;titlebox forschung-02&#8243; css=&#8221;.vc_custom_1678285387392{margin-bottom: 0px !important;}&#8221;]\n<h2>Progeroid syndromes<\/h2>\n[\/vc_column_text][vc_empty_space][vc_row_inner][vc_column_inner][vc_column_text css=&#8221;.vc_custom_1678285409438{margin-bottom: 0px !important;}&#8221;]Progeroid syndromes are rare congenital disorders characterized by the appearance of premature or accelerated aging and the manifestation of aging-associated disorders like cardiovascular disease or cancer at a very early age. We explore progeroid syndromes, their causes and their underlying molecular mechanisms and also increase our understanding of the physiological process of human aging and gain deeper insights into how common aging-related pathologies develop, as for example heart failure or cancer. Progeroid syndromes that we particularly focus on include Wiedemann-Rautenstrauch syndrome, Hallermann-Streiff syndrome and Bloom syndrome.[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][vc_empty_space][\/vc_column][vc_column width=&#8221;1\/3&#8243;][vc_empty_space height=&#8221;32&#8243;][mk_padding_divider size=&#8221;70&#8243; visibility=&#8221;hidden-sm&#8221;][mk_image src=&#8221;https:\/\/www.humangenetik-umg.de\/wp-content\/uploads\/2016\/07\/contentbilder-287-180.jpg&#8221; image_width=&#8221;287&#8243; image_height=&#8221;180&#8243; visibility=&#8221;hidden-sm&#8221;][\/vc_column][\/mk_page_section][mk_page_section section_id=&#8221;instability&#8221; sidebar=&#8221;bb_sidemenu_widget&#8221;][vc_column width=&#8221;1\/3&#8243;][vc_empty_space height=&#8221;32&#8243;][mk_padding_divider size=&#8221;70&#8243; visibility=&#8221;hidden-sm&#8221;][mk_image src=&#8221;https:\/\/www.humangenetik-umg.de\/wp-content\/uploads\/2016\/07\/contentbilder-287-180.jpg&#8221; image_width=&#8221;287&#8243; image_height=&#8221;180&#8243; align=&#8221;right&#8221; visibility=&#8221;hidden-sm&#8221;][\/vc_column][vc_column width=&#8221;2\/3&#8243;][vc_empty_space height=&#8221;30&#8243;][vc_column_text el_class=&#8221;titlebox forschung-02&#8243; css=&#8221;.vc_custom_1678285439486{margin-bottom: 0px !important;}&#8221;]\n<h2>Genomic instability<\/h2>\n[\/vc_column_text][vc_empty_space height=&#8221;20px&#8221;][vc_row_inner][vc_column_inner][vc_column_text css=&#8221;.vc_custom_1762336024271{margin-bottom: 0px !important;}&#8221;]How do specific genetic variants result in genomic and structural changes in heart muscle cells? To address this question, we combine various methods of next-generation sequencing. We generate induced pluripotent stem cells (iPSCs) from patient cells and differentiate them into cardiomyocytes to functionally characterize specific variants. We also explore the genomic processes that affect DNA stability and lead to heart failure. We apply single-cell RNA sequencing and single-cell genome sequencing to find out how genomic instability impacts on gene activity and transcription profiles in our project \u201cSP-Z: NGS-based approaches for systematic analysis of genomic and chromosome instability\u201d in DFG FOR2800 \u201c<a href=\"https:\/\/for2800.de\/\" target=\"_blank\" rel=\"noopener\">Chromosome Instability: Cross-talk of DNA replication stress and mitotic dysfunction<\/a>\u201c (speaker: Holger Bastians, Institute of Molecular Oncology, UMG). Our aim is to provide deeper insights into the relationship that exists between DNA replication stress factors and impaired cell division.[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][vc_empty_space height=&#8221;32&#8243;][\/vc_column][\/mk_page_section][mk_page_section section_id=&#8221;aging&#8221; sidebar=&#8221;bb_sidemenu_widget&#8221;][vc_column width=&#8221;2\/3&#8243;][vc_empty_space height=&#8221;30&#8243;][vc_column_text el_class=&#8221;titlebox forschung-02&#8243; css=&#8221;.vc_custom_1678285485654{margin-bottom: 0px !important;}&#8221;]\n<h2>Molecular and cellular mechanisms of aging<\/h2>\n[\/vc_column_text][vc_empty_space][vc_row_inner][vc_column_inner][vc_column_text css=&#8221;.vc_custom_1678285508022{margin-bottom: 0px !important;}&#8221;]The process of aging is associated with a variety of factors that interact on the molecular and cellular level and are involved in the functional decline of cells over time. We design strategies to use technologies like single-cell genome sequencing, long-read sequencing and high-resolution microscopy to find out how defects in DNA repair mechanisms, impaired mitochondrial function or altered telomere dynamics affect genomic processes and contribute to the aging process.[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][vc_empty_space][\/vc_column][vc_column width=&#8221;1\/3&#8243;][vc_empty_space height=&#8221;32&#8243;][mk_padding_divider size=&#8221;70&#8243; visibility=&#8221;hidden-sm&#8221;][mk_image src=&#8221;https:\/\/www.humangenetik-umg.de\/wp-content\/uploads\/2016\/07\/contentbilder-287-180.jpg&#8221; image_width=&#8221;287&#8243; image_height=&#8221;180&#8243; visibility=&#8221;hidden-sm&#8221;][\/vc_column][\/mk_page_section][mk_page_section section_id=&#8221;editing&#8221; sidebar=&#8221;bb_sidemenu_widget&#8221;][vc_column width=&#8221;1\/3&#8243;][vc_empty_space height=&#8221;32&#8243;][mk_padding_divider size=&#8221;70&#8243; visibility=&#8221;hidden-sm&#8221;][mk_image src=&#8221;https:\/\/www.humangenetik-umg.de\/wp-content\/uploads\/2016\/07\/contentbilder-287-180.jpg&#8221; image_width=&#8221;287&#8243; image_height=&#8221;180&#8243; align=&#8221;right&#8221; visibility=&#8221;hidden-sm&#8221;][\/vc_column][vc_column width=&#8221;2\/3&#8243;][vc_empty_space height=&#8221;30&#8243;][vc_column_text el_class=&#8221;titlebox forschung-02&#8243; css=&#8221;.vc_custom_1678285527559{margin-bottom: 0px !important;}&#8221;]\n<h2>Therapeutic genome editing in genetic heart diseases<\/h2>\n[\/vc_column_text][vc_empty_space height=&#8221;20px&#8221;][vc_row_inner][vc_column_inner][vc_column_text css=&#8221;.vc_custom_1678285553511{margin-bottom: 0px !important;}&#8221;]We aim at identifying novel genetic variants causing genetic heart diseases for developing specific molecular therapies based on CRISPR\/Cas9 genome editing. For this purpose, we establish targeted editing in suitable cell models using, e.g., induced pluripotent stem cells for generating cardiomyocytes with the specific genetic variant. Our work is funded by the German Center for Heart and Cardiovascular Research (DZHK). Within our projects, we also uncover genes and mechanisms involved in hereditary forms of hypertrophic and dilatative cardiomyopathies that might allow the development of future genome-editing-based options for the treatment of these disorders.[\/vc_column_text][vc_empty_space][\/vc_column_inner][\/vc_row_inner][\/vc_column][\/mk_page_section][mk_page_section section_id=&#8221;ngs&#8221; sidebar=&#8221;bb_sidemenu_widget&#8221;][vc_column width=&#8221;2\/3&#8243;][vc_empty_space height=&#8221;30&#8243;][vc_column_text el_class=&#8221;titlebox forschung-02&#8243; css=&#8221;.vc_custom_1678285607197{margin-bottom: 0px !important;}&#8221;]\n<h2>NGS-based strategies to identify novel genes linked to rare diseases<\/h2>\n[\/vc_column_text][vc_empty_space][vc_row_inner][vc_column_inner][vc_column_text css=&#8221;.vc_custom_1678285687447{margin-bottom: 0px !important;}&#8221;]We develop and establish innovative NGS-based strategies to continuously identify new genes and variants related to rare diseases as, e.g., <em>SEC24C<\/em>, <em>MED26<\/em>, <em>CELA3A<\/em>, <em>NARF<\/em>, <em>FILIP1<\/em>, <em>YRDC<\/em>, <em>WARS1<\/em>, <em>SARS1<\/em>, <em>RPL3L<\/em>, <em>DNM1<\/em>, <em>PCDHGC4<\/em>. Subsequently, we functionally analyze identified variants to gain new insights into molecular pathomechanisms.[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][vc_empty_space][\/vc_column][vc_column width=&#8221;1\/3&#8243;][vc_empty_space height=&#8221;32&#8243;][mk_padding_divider size=&#8221;70&#8243; visibility=&#8221;hidden-sm&#8221;][mk_image src=&#8221;https:\/\/www.humangenetik-umg.de\/wp-content\/uploads\/2016\/07\/contentbilder-287-180.jpg&#8221; image_width=&#8221;287&#8243; image_height=&#8221;180&#8243; visibility=&#8221;hidden-sm&#8221;][\/vc_column][\/mk_page_section][mk_page_section section_id=&#8221;mbexc&#8221; sidebar=&#8221;bb_sidemenu_widget&#8221;][vc_column width=&#8221;1\/3&#8243;][vc_empty_space height=&#8221;32&#8243;][mk_padding_divider size=&#8221;70&#8243; visibility=&#8221;hidden-sm&#8221;][mk_image src=&#8221;https:\/\/www.humangenetik-umg.de\/wp-content\/uploads\/2016\/07\/contentbilder-287-180.jpg&#8221; image_width=&#8221;287&#8243; image_height=&#8221;180&#8243; align=&#8221;right&#8221; visibility=&#8221;hidden-sm&#8221;][\/vc_column][vc_column width=&#8221;2\/3&#8243;][vc_empty_space height=&#8221;30&#8243;][vc_column_text el_class=&#8221;titlebox forschung-02&#8243; css=&#8221;.vc_custom_1678285722365{margin-bottom: 0px !important;}&#8221;]\n<h2>Cluster of Excellence MBExC<\/h2>\n[\/vc_column_text][vc_empty_space height=&#8221;20px&#8221;][vc_row_inner][vc_column_inner][vc_column_text css=&#8221;.vc_custom_1678285802861{margin-bottom: 0px !important;}&#8221;]Within the Cluster of Excellence MBExC \u201c<a href=\"https:\/\/mbexc.de\/\" target=\"_blank\" rel=\"noopener\">Multiscale Bioimaging: From Molecular Machines to Networks of Excitable Cells<\/a>\u201d (speaker: Tobias Moser, Institute for Auditory Neuroscience, UMG), researchers investigate fundamental processes in heart and brain on different levels, from molecules to organs, to discover disease-associated functional units of heart and nervous cells. Bernd Wollnik is PI in MBExC research alliances 1.1 Mitochondrial gene expression and 1.2 Epigenetic regulation of transcription. In our project \u201cMolecular mechanisms of premature aging processes in progeroid phenotypes\u201d, we use novel approaches of single-cell RNA sequencing to determine specific epigenetic signatures and mitochondrial expression profiles in phenotypes of premature aging.[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][vc_empty_space][\/vc_column][\/mk_page_section][mk_page_section section_id=&#8221;insightrp2&#8243; sidebar=&#8221;bb_sidemenu_widget&#8221;][vc_column width=&#8221;2\/3&#8243;][vc_empty_space height=&#8221;30&#8243;][vc_column_text el_class=&#8221;titlebox forschung-02&#8243; css=&#8221;.vc_custom_1743067674081{margin-bottom: 0px !important;}&#8221;]\n<h2>InsightRP2<\/h2>\n[\/vc_column_text][vc_empty_space][vc_row_inner][vc_column_inner][vc_column_text css=&#8221;.vc_custom_1743068109082{margin-bottom: 0px !important;}&#8221;]Mutations in the <em>RP2<\/em> gene cause a particular form of retinitis pigmentosa (RP), an inherited retinal disorder. Our InsightRP2 project investigates the clinical course of the disease, its genetic basis and underlying molecular mechanisms as well as future gene-based therapeutic strategies to treat <em>RP2<\/em>-associated RP. In our research, we also use modern OMICS technologies in cellular models and novel methods of AI imaging data analysis.<\/p>\n[mk_button dimension=&#8221;flat&#8221; size=&#8221;medium&#8221; icon=&#8221;mk-icon-long-arrow-right&#8221; icon_anim=&#8221;side&#8221; url=&#8221;https:\/\/www.humangenetik-umg.de\/en\/research\/wollnik-research-group\/insightrp2&#8243; bg_color=&#8221;#ff9900&#8243; btn_hover_bg=&#8221;#000000&#8243; btn_hover_txt_color=&#8221;#ffffff&#8221;]learn more[\/mk_button][\/vc_column_text][\/vc_column_inner][\/vc_row_inner][vc_empty_space][\/vc_column][vc_column width=&#8221;1\/3&#8243;][vc_empty_space height=&#8221;32&#8243;][mk_padding_divider size=&#8221;70&#8243; visibility=&#8221;hidden-sm&#8221;][mk_image src=&#8221;https:\/\/www.humangenetik-umg.de\/wp-content\/uploads\/2016\/07\/contentbilder-287-180.jpg&#8221; image_width=&#8221;287&#8243; image_height=&#8221;180&#8243; visibility=&#8221;hidden-sm&#8221;][\/vc_column][\/mk_page_section][mk_page_section][vc_column][vc_empty_space height=&#8221;100&#8243;][\/vc_column][\/mk_page_section][mk_page_section min_height=&#8221;0&#8243; padding_top=&#8221;0&#8243; padding_bottom=&#8221;0&#8243; section_id=&#8221;publications&#8221; sidebar=&#8221;sidebar-1&#8243;][vc_column][vc_empty_space height=&#8221;100&#8243;][vc_column_text]\n<h2 style=\"text-align: center;\"><span style=\"color: #ff9900;\">Publications Wollnik Research Group<\/span><\/h2>\n[\/vc_column_text][mk_padding_divider size=&#8221;32&#8243;][\/vc_column][\/mk_page_section][vc_row fullwidth=&#8221;true&#8221; fullwidth_content=&#8221;false&#8221; css=&#8221;.vc_custom_1473753600174{border-top-width: 0px !important;border-right-width: 0px !important;border-bottom-width: 0px !important;background-color: #ff9900 !important;border-right-color: #ffffff !important;border-right-style: solid !important;border-top-color: #ffffff !important;border-top-style: solid !important;border-bottom-color: #ffffff !important;border-bottom-style: solid !important;}&#8221; el_class=&#8221;ankernavigation-dark&#8221;][vc_column width=&#8221;1\/4&#8243; el_class=&#8221;anker-first&#8221;][mk_fancy_title color=&#8221;#ffffff&#8221; size=&#8221;30&#8243; margin_bottom=&#8221;0&#8243; font_family=&#8221;none&#8221; align=&#8221;center&#8221; animation=&#8221;scale-up&#8221;]<a href=\"#2026\">2026<\/a>[\/mk_fancy_title][\/vc_column][vc_column width=&#8221;1\/4&#8243; el_class=&#8221;anker-middle&#8221;][mk_fancy_title color=&#8221;#ffffff&#8221; size=&#8221;30&#8243; margin_bottom=&#8221;0&#8243; font_family=&#8221;none&#8221; align=&#8221;center&#8221; animation=&#8221;scale-up&#8221;]<a href=\"#2025\">2025<\/a>[\/mk_fancy_title][\/vc_column][vc_column width=&#8221;1\/4&#8243; el_class=&#8221;anker-middle&#8221;][mk_fancy_title color=&#8221;#ffffff&#8221; size=&#8221;30&#8243; margin_bottom=&#8221;0&#8243; font_family=&#8221;none&#8221; align=&#8221;center&#8221; animation=&#8221;scale-up&#8221;]<a href=\"#2024\">2024<\/a>[\/mk_fancy_title][\/vc_column][vc_column width=&#8221;1\/4&#8243; el_class=&#8221;anker-last&#8221;][mk_fancy_title color=&#8221;#ffffff&#8221; size=&#8221;30&#8243; margin_bottom=&#8221;0&#8243; font_family=&#8221;none&#8221; align=&#8221;center&#8221; animation=&#8221;scale-up&#8221;]<a href=\"#2023\">2023<\/a>[\/mk_fancy_title][\/vc_column][\/vc_row][mk_page_section min_height=&#8221;0&#8243; padding_top=&#8221;0&#8243; padding_bottom=&#8221;0&#8243; section_id=&#8221;anker-1&#8243; sidebar=&#8221;sidebar-1&#8243;][vc_column][mk_padding_divider size=&#8221;20&#8243; visibility=&#8221;hidden-sm&#8221;][\/vc_column][\/mk_page_section][vc_row fullwidth=&#8221;true&#8221; fullwidth_content=&#8221;false&#8221; css=&#8221;.vc_custom_1473753612485{border-top-width: 0px !important;border-right-width: 0px !important;border-bottom-width: 0px !important;background-color: #ff9900 !important;border-right-color: #ffffff !important;border-right-style: solid !important;border-top-color: #ffffff !important;border-top-style: solid !important;border-bottom-color: #ffffff !important;border-bottom-style: solid !important;}&#8221; el_class=&#8221;ankernavigation-dark&#8221;][vc_column width=&#8221;1\/4&#8243; el_class=&#8221;anker-first&#8221;][\/vc_column][vc_column width=&#8221;1\/4&#8243; el_class=&#8221;anker-middle&#8221;][mk_fancy_title color=&#8221;#ffffff&#8221; size=&#8221;30&#8243; margin_bottom=&#8221;0&#8243; font_family=&#8221;none&#8221; align=&#8221;center&#8221; animation=&#8221;scale-up&#8221;]<a href=\"#2022\">2022<\/a>[\/mk_fancy_title][\/vc_column][vc_column width=&#8221;1\/4&#8243; el_class=&#8221;anker-middle&#8221;][mk_fancy_title color=&#8221;#ffffff&#8221; size=&#8221;30&#8243; margin_bottom=&#8221;0&#8243; font_family=&#8221;none&#8221; align=&#8221;center&#8221; animation=&#8221;scale-up&#8221;]<a href=\"#2021\">2021 and before<\/a>[\/mk_fancy_title][\/vc_column][vc_column width=&#8221;1\/4&#8243; el_class=&#8221;anker-last&#8221;][\/vc_column][\/vc_row][mk_page_section min_height=&#8221;0&#8243; padding_top=&#8221;0&#8243; padding_bottom=&#8221;0&#8243; section_id=&#8221;2026&#8243; sidebar=&#8221;sidebar-1&#8243;][vc_column][mk_padding_divider size=&#8221;120&#8243;][\/vc_column][\/mk_page_section][mk_page_section sidebar=&#8221;sidebar-1&#8243;][vc_column][vc_column_text el_class=&#8221;titlebox forschung-02&#8243; css=&#8221;.vc_custom_1769431362376{margin-bottom: 0px !important;}&#8221;]\n<h2>2026<\/h2>\n[\/vc_column_text][mk_padding_divider size=&#8221;25&#8243; visibility=&#8221;visible-sm&#8221;][mk_padding_divider visibility=&#8221;hidden-sm&#8221;][vc_column_text el_class=&#8221;padding25lr publikationen&#8221; css=&#8221;.vc_custom_1769431445256{margin-bottom: 0px !important;}&#8221;]<a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/41529692\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies<\/b><\/a><br \/>\nDi Donato N; NMA Consortium; Thom A, Rump A, Greve JN, Cadi\u00f1anos J, Calabro S, Cathey S, Chung B, Cope H, Costales M, Cuvertino S, Dinkel P, Erripi K, Fry AE, Garavelli L, Hoffjan S, Janzarik WG, Kreimer I, Mancini G, Marin-Reina P, Meinhardt A, Niehaus I, Pilz D, Ricca I, Simarro FS, Schrock E, Marquardt A, Taft MH, Tezcan K, Thunstr\u00f6m S, Verhagen J, Verloes A, Wollnik B, Krawitz P, Hsieh TC, Seifert M, Heide M, Lawrence CB, Roberts NA, Manstein DJ, Woolf AS, Banka S<br \/>\n<em>Am J Hum Genet.<\/em> 2026 Jan 12:S0002-9297(25)00478-1. doi: 10.1016\/j.ajhg.2025.12.007. Epub ahead of print[\/vc_column_text][\/vc_column][\/mk_page_section][mk_page_section min_height=&#8221;0&#8243; padding_top=&#8221;0&#8243; padding_bottom=&#8221;0&#8243; section_id=&#8221;2025&#8243; sidebar=&#8221;sidebar-1&#8243;][vc_column][mk_padding_divider size=&#8221;120&#8243;][\/vc_column][\/mk_page_section][mk_page_section sidebar=&#8221;sidebar-1&#8243;][vc_column][vc_column_text el_class=&#8221;titlebox forschung-02&#8243; css=&#8221;.vc_custom_1737381115682{margin-bottom: 0px !important;}&#8221;]\n<h2>2025<\/h2>\n[\/vc_column_text][mk_padding_divider size=&#8221;25&#8243; visibility=&#8221;visible-sm&#8221;][mk_padding_divider visibility=&#8221;hidden-sm&#8221;][vc_column_text el_class=&#8221;padding25lr publikationen&#8221; css=&#8221;.vc_custom_1767944699233{margin-bottom: 0px !important;}&#8221;]<a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/41463182\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Identification of Novel Susceptibility Genes for Early-Onset Colorectal Cancer Through Germline Rare Variant Burden Testing<\/b><\/a><br \/>\nSong R, Mikaeel RR, He Z, Horsnell M, Uylaki W, Meng W, Poplawski NK, Wollnik B, Li Y, Feng J, Scott HS, Shen Y, Wang C, Yin R, Ding Y, Llor X, Chung WK, Smith E, Price TJ, Young JP, Fan X<br \/>\n<em>Cancers (Basel).<\/em> 2025 Dec 9;17(24):3931. doi: 10.3390\/cancers17243931.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/41053928\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism<\/b><\/a><br \/>\nDafsari HS, Deneubourg C, Singh K, et int., Li Y, Yigit G, Wollnik B, Monje MHG, Krainc D, Mencacci NE, Bakhtiari S, Kruer M, Argilli E, Sherr E, Jamshidi Y, Karimiani EG, Cheung YWS, Karin I, Zifarelli G, Bauer P, Chung WK, Lupski JR, Kurian MA, D\u00f6tsch J, von Kleist-Retzow JC, Klopstock T, Wagner M, Yip C, Roos A, Carsetti R, Dionisi-Vici C, Gautel M, Duchen MR, Antebi A, Houlden H, Fanto M, Jungbluth H<br \/>\n<em>Ann Neurol. <\/em>2025 Oct 6. doi: 10.1002\/ana.78013. Epub ahead of print<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/40927552\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Is CABP2-Associated Hearing Loss (DFNB93) a Gene Therapy Target? Preclinical Progress and Patient Registry<\/b><\/a><br \/>\nVona B, Wollnik B, Strenzke N, Pangr\u0161i\u010d T, Moser T<br \/>\n<em>MedComm<\/em> 2025 6(9):e70363. doi: 10.1002\/mco2.70363.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/40207042\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Understanding inherited cardiomyopathies: clinical aspects and genetic determinants<\/b><\/a><br \/>\nYigit G, Kaulfu\u00df S, Wollnik B<br \/>\n<em>Med Genet.<\/em> 2025 Apr 8;37(2):103-111. doi: 10.1515\/medgen-2025-2007.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/40207037\" target=\"_blank\" rel=\"noopener noreferrer\"><b>The role of genetics in inherited cardiac diseases<\/b><\/a><br \/>\nRappold G, Wollnik B<br \/>\n<em>Med Genet.<\/em> 2025 Apr 8;37(2):93-94. doi: 10.1515\/medgen-2025-2004.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/40131364\" target=\"_blank\" rel=\"noopener noreferrer\"><b>SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis<\/b><\/a><br \/>\nB\u00f6gershausen N, Cavdarli B, Nagai T, Milev MP, Wolff A, Mehranfar M, Schmidt J, Choudhary D, Guti\u00e9rrez-Guti\u00e9rrez \u00d3, Cyganek L, Saint-Dic D, Zibat A, K\u00f6hrer K, Wollenweber TE, Wieczorek D, Altm\u00fcller J, Borodina T, Ka\u00e7ar D, Halilo\u011flu G, Li Y, Thiel C, Sacher M, Knapik EW, Yigit G, Wollnik B<br \/>\n<em>JCI Insight.<\/em> 2025 Mar 25:e173484. doi: 10.1172\/jci.insight.173484. Epub ahead of print.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/40114033\" target=\"_blank\" rel=\"noopener noreferrer\"><b>XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches<\/b><\/a><br \/>\nCuinat S, Chatron N, Petit F, Brunelle P, Dincuff E, Aubert Mucca M, Bieth E, Schmetz A, Rieder H, Wollnik B, Kaulfu\u00df S, Yigit G, McKeown C, Savage T, Mulligan MR, Bicknell LS, Corsten-Janssen N, Edery P, Lesca G, de Villartay JP, Putoux A<br \/>\n<em>Eur J Hum Genet<\/em>2025 Mar 20. doi: 10.1038\/s41431-025-01821-0. Epub ahead of print.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/39880949\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Engineered heart muscle allografts for heart repair in primates and humans. <\/b><\/a><br \/>\nJebran AF, Seidler T, Tiburcy M, Daskalaki M, Kutschka I, Fujita B, Ensminger S, Bremmer F, Moussavi A, Yang H, Qin X, Mi\u00dfbach S, Drummer C, Baraki H, Boretius S, Hasenauer C, Nette T, Kowallick J, Ritter CO, Lotz J, Didi\u00e9 M, Mietsch M, Meyer T, Kensah G, Kr\u00fcger D, Sakib MS, Kaurani L, Fischer A, Dressel R, Rodriguez-Polo I, Stauske M, Diecke S, Maetz-Rensing K, Gruber-Dujardin E, Bleyer M, Petersen B, Roos C, Zhang L, Walter L, Kaulfu\u00df S, Yigit G, Wollnik B, Levent E, Roshani B, Stahl-Henning C, Str\u00f6bel P, Legler T, Riggert J, Hellenkamp K, Voigt JU, Hasenfu\u00df G, Hinkel R, Wu JC, Behr R, Zimmermann WH<br \/>\n<em>Nature<\/em>. 2025 Jan 29. doi: 10.1038\/s41586-024-08463-0. Epub ahead of print.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/39253995\" target=\"_blank\" rel=\"noopener noreferrer\"><b>KRASG12C-inhibitor-based combination therapies for pancreatic cancer: insights from drug screening<\/b><\/a><br \/>\nTapia Contreras C, Falke JD, Seifert DM, Schneider C, Krau\u00df L, Fang X, M\u00fcller D, Demirdizen E, Spitzner M, De Oliveira T, Schneeweis C, Gaedcke J, Kaulfu\u00df S, Mirzakhani K, Wollnik B, Conrads K, Bei\u00dfbarth T, Salinas G, H\u00fcgel J, Beyer N, Rheinl\u00e4nder S, Sax U, Wirth M, Conradi LC, Reichert M, Ellenrieder V, Str\u00f6bel P, Ghadimi M, Grade M, Saur D, Hessmann E, Schneider G<br \/>\n<em>Mol Oncol<\/em> 2025 Feb;19(2):295-310. doi: 10.1002\/1878-0261.13725. Epub 2024 Sep 10.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/39812180\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Phenotypes linked to duplication upstream of SOX9: New insights into presentation and diagnosis<\/b><\/a><br \/>\nUnal E, Tekmenuray-Unal A, Cayir A, Papatya Cakir ED, Beyazit N, Kolbasi B, Gurpinar Tosun B, Yigit G, Zibat A, Wollnik B, Demirbilek H, Guran T<br \/>\n<em>J Clin Endocrinol Metab<\/em> 2025 Jan 15:dgaf020. doi: 10.1210\/clinem\/dgaf020. Epub ahead of print.[\/vc_column_text][\/vc_column][\/mk_page_section][mk_page_section min_height=&#8221;0&#8243; padding_top=&#8221;0&#8243; padding_bottom=&#8221;0&#8243; section_id=&#8221;2024&#8243; sidebar=&#8221;sidebar-1&#8243;][vc_column][mk_padding_divider size=&#8221;120&#8243;][\/vc_column][\/mk_page_section][mk_page_section sidebar=&#8221;sidebar-1&#8243;][vc_column][vc_column_text el_class=&#8221;titlebox forschung-02&#8243; css=&#8221;.vc_custom_1706697109673{margin-bottom: 0px !important;}&#8221;]\n<h2>2024<\/h2>\n[\/vc_column_text][mk_padding_divider size=&#8221;25&#8243; visibility=&#8221;visible-sm&#8221;][mk_padding_divider visibility=&#8221;hidden-sm&#8221;][vc_column_text el_class=&#8221;padding25lr publikationen&#8221; css=&#8221;.vc_custom_1739369044360{margin-bottom: 0px !important;}&#8221;]<a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/39702477\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Reliability of high-quantity human brain organoids for modeling microcephaly, glioma invasion and drug screening<\/b><\/a><br \/>\nRamani A, Pasquini G, Gerkau NJ, Jadhav V, Vinchure OS, Altinisik N, Windoffer H, Muller S, Rothenaigner I, Lin S, Mariappan A, Rathinam D, Mirsaidi A, Goureau O, Ricci-Vitiani L, D&#8217;Alessandris QG, Wollnik B, Muotri A, Freifeld L, Jurisch-Yaksi N, Pallini R, Rose CR, Busskamp V, Gabriel E, Hadian K, Gopalakrishnan J<br \/>\n<em>Nat Commun<\/em> 2024 Dec 19;15(1):10703. doi: 10.1038\/s41467-024-55226-6<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/39003740\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Mutation-induced LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome<\/b><\/a><br \/>\nBusley AV, Guti\u00e9rrez-Guti\u00e9rrez \u00d3, Hammer E, Koitka F, Mirzaiebadizi A, Steinegger M, Pape C, B\u00f6hmer L, Schroeder H, Kleinsorge M, Engler M, Cirstea IC, Gremer L, Willbold D, Altm\u00fcller J, Marbach F, Hasenfuss G, Zimmermann WH, Ahmadian MR, Wollnik B, Cyganek L<br \/>\n<em>Cell Rep<\/em> 2024 Jul 13;43(7):114448. doi: 10.1016\/j.celrep.2024.114448. Epub ahead of print.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/38909932\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Functional characterization of PI3K C2 domain mutations detected in breast cancer circulating tumor cells and metastatic cells<\/b><\/a><br \/>\nSmit DJ, Brauer H, Horn S, Yigit G, Haider MT, Pogenberg V, Schumacher U, Pantel K, J\u00fccker M<br \/>\n<em>Cell Signal<\/em> 2024 Jun 21;121:111270. doi: 10.1016\/j.cellsig.2024.111270. Epub ahead of print.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/38825639\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Catching up but still miles behind-a patient registry for otoferlin<\/b><\/a><br \/>\nVona B, Wollnik B, Strenzke N, Moser T<br \/>\n<em>Exp Mol Med.<\/em> 2024 Jun 3. doi: 10.1038\/s12276-024-01247-6. Epub ahead of print.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/38583294\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Generation of a pluripotent stem cell line (UMGi270-A) and a corresponding CRISPR\/Cas9 modified isogenic control (UMGi270-A-1) from a patient with sudden onset dilated cardiomyopathy harboring a FLNC p.R2187P mutation<\/b><br \/>\n<\/a>Maurer W, Rebs S, K\u00f6hne S, Eberl H, Wollnik B, Zibat A, Streckfuss-B\u00f6meke K<br \/>\n<em>Stem Cell Res<\/em> 2024 Mar 29;77:103409. doi: 10.1016\/j.scr.2024.103409. Epub ahead of print.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/38542157\" target=\"_blank\" rel=\"noopener noreferrer\"><b>3D Super-Resolution Nuclear Q-FISH Imaging Reveals Cell-Cycle-Related Telomere Changes<\/b><br \/>\n<\/a>Pochechueva TV, Schwenzer N, Kohl T, Brandenburg S, Kaltenecker G, Wollnik B, Lehnart SE<br \/>\n<em>Int J Mol Sci<\/em> 2024 Mar 10;25(6):3183. doi: 10.3390\/ijms25063183.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/38346409\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Association of antenatal evaluations with postmortem and genetic findings in the series of fetal osteogenesis imperfecta<\/b><br \/>\n<\/a>Senturk L, Gulec C, Sarac Sivrikoz T, Kayserili H, Kalelioglu IH, Avci S, Has R, Coucke P, Kalayci T, Wollnik B, Karaman B, Toksoy G, Symoens S, Yigit G, Yuksel A, Basaran S, Tuysuz B, Altunoglu U, Uyguner ZO<br \/>\n<em>Fetal Diagn Ther<\/em> 2024 Feb 12. doi: 10.1159\/000536324. Epub ahead of print.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/38333672\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Preclinical evaluation of CRISPR-based therapies for Noonan syndrome caused by deep-intronic LZTR1 variants<\/b><br \/>\n<\/a>Knauer C, Haltern H, Schoger E, K\u00fcgler S, Roos L, Zelaray\u00e1n LC, Hasenfuss G, Zimmermann WH, Wollnik B, Cyganek L<br \/>\n<em>Mol Ther Nucleic Acids<\/em> 2024 Jan 23;35(1):102123. doi: 10.1016\/j.omtn.2024.102123.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/38265560\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes<\/b><br \/>\n<\/a>Schmidt J, Kaulfu\u00df S, Ott H, Gaubert M, Reintjes N, Bremmer F, Dreha-Kulaczewski S, Stroebel P, Yigit G, Wollnik B<br \/>\n<em>Hum Genet<\/em> 2024 Jan 24. doi: 10.1007\/s00439-023-02634-1. Epub ahead of print<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/37913894\" target=\"_blank\" rel=\"noopener noreferrer\"><b>An NFATc1\/SMAD3\/cJUN Complex Restricted to SMAD4-Deficient Pancreatic Cancer Guides Rational Therapies<\/b><br \/>\n<\/a>Hasselluhn MC, Schl\u00f6sser D, Versemann L, Schmidt GE, Ulisse M, Oschwald J, Zhang Z, Hamdan F, Xiao H, Kopp W, Spitalieri J, Kellner C, Schneider C, Reutlinger K, Nagarajan S, Steuber B, Sastra SA, Palermo CF, Appelhans J, Bohnenberger H, Todorovic J, Kostyuchek I, Str\u00f6bel P, Bockelmann A, K\u00f6nig A, Ammer-Herrmenau C, Schmidleitner L, Kaulfu\u00df S, Wollnik B, Hahn SA, Neesse A, Singh SK, Bastians H, Reichert M, Sax U, Olive KP, Johnsen SA, Schneider G, Ellenrieder V, Hessmann E<br \/>\n<em>Gastroenterology<\/em> 2024 Feb;166(2):298-312.e14. doi: 10.1053\/j.gastro.2023.10.026. Epub 2023 Oct 31.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/37962958\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Spliceosome malfunction causes neurodevelopmental disorders with overlapping features<\/b><br \/>\n<\/a>Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, P\u00e9rez-Jurado LA, Aznar-La\u00edn G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O&#8217;Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, M\u00f8ller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez Garcia Moya L, Garc\u00eda-Mi\u00f1a\u00far S, Osmond M, Chad L, Quercia N, Carrasco D, Li C, Sanchez-Valle A, Kelley M, Nizon M, Jensson BO, Sulem P, Stefansson K, Gorokhova S, Busa T, Rio M, Hadj Habdallah H, Lesieur-Sebellin M, Amiel J, Pingault V, Mercier S, Vincent M, Philippe C, Fatus-Fauconnier C, Friend K, Halligan RK, Biswas S, Rosser J, Shoubridge C, Corbett M, Barnett C, Gecz J, Leppig K, Slavotinek A, Marcelis C, Pfundt R, de Vries BB, van Slegtenhorst MA, Brooks AS, Cogne B, Rambaud T, T\u00fcmer Z, Zackai EH, Akizu N, Song Y, Hakonarson H<br \/>\n<em>J Clin Invest<\/em> 2024 Jan 2;134(1):e171235. doi: 10.1172\/JCI171235[\/vc_column_text][\/vc_column][\/mk_page_section][mk_page_section min_height=&#8221;0&#8243; padding_top=&#8221;0&#8243; padding_bottom=&#8221;0&#8243; section_id=&#8221;2023&#8243; sidebar=&#8221;sidebar-1&#8243;][vc_column][mk_padding_divider size=&#8221;120&#8243;][\/vc_column][\/mk_page_section][mk_page_section sidebar=&#8221;sidebar-1&#8243;][vc_column][vc_column_text el_class=&#8221;titlebox forschung-02&#8243; css=&#8221;.vc_custom_1679494821918{margin-bottom: 0px !important;}&#8221;]\n<h2>2023<\/h2>\n[\/vc_column_text][mk_padding_divider size=&#8221;25&#8243; visibility=&#8221;visible-sm&#8221;][mk_padding_divider visibility=&#8221;hidden-sm&#8221;][vc_column_text el_class=&#8221;padding25lr publikationen&#8221; css=&#8221;.vc_custom_1706697156466{margin-bottom: 0px !important;}&#8221;]<a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/38053936\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Lysinuric protein intolerance caused by a homozygous SLC7A7 deletion and presented with hyperferritinemia and osteoporosis in two siblings<\/b><br \/>\n<\/a>Kalay I, Aykut H, Caliskan Z, Yigit G, Wollnik B<br \/>\n<em>Mol Genet Metab Rep<\/em> 2023 Nov 16;37:101022. doi: 10.1016\/j.ymgmr.2023.101022.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/37847314\" target=\"_blank\" rel=\"noopener noreferrer\"><b>The challenges of research data management in cardiovascular science: a DGK and DZHK position paper-executive summary<\/b><br \/>\n<\/a>Steffens S, Schr\u00f6der K, Kr\u00fcger M, Maack C, Streckfuss-B\u00f6meke K, Backs J, Backofen R, Bae\u00dfler B, Devaux Y, Gilsbach R, Heijman J, Knaus J, Kramann R, Linz D, Lister AL, Maatz H, Maegdefessel L, Mayr M, Meder B, Nussbeck SY, Rog-Zielinska EA, Schulz MH, Sickmann A, Yigit G, Kohl P<br \/>\n<em>Clin Res Cardiol<\/em> 2023 Oct 17. doi: 10.1007\/s00392-023-02303-3. Epub ahead of print.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/37731621\" target=\"_blank\" rel=\"noopener noreferrer\"><b>N4-hydroxycytidine, the active compound of Molnupiravir, promotes SARS-CoV-2 mutagenesis and escape from a neutralizing nanobody<\/b><br \/>\n<\/a>Zibat A, Zhang X, Dickmanns A, Stegmann KM, Dobbelstein AW, Alachram H, Soliwoda R, Salinas G, Gro\u00df U, G\u00f6rlich D, Kschischo M, Wollnik B, Dobbelstein M<br \/>\n<em>iScience<\/em> 2023 Aug 30;26(10):107786. doi: 10.1016\/j.isci.2023.107786.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/37657630\" target=\"_blank\" rel=\"noopener noreferrer\"><b>B3GALT6-linkeropathy: Three illustrative patients spanning the disease spectrum<\/b><br \/>\n<\/a>Coetzer KC, Dieckerhoff J, Wollnik B, Moosa S<br \/>\n<em>Eur J Med Genet<\/em> 2023 Aug 30;66(10):104829. doi: 10.1016\/j.ejmg.2023.104829.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/37352860\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans<\/b><br \/>\n<\/a>Guo L, Salian S, Xue JY, Rath N, Rousseau J, Kim H, Ehresmann S, Moosa S, Nakagawa N, Kuroda H, Clayton-Smith J, Wang J, Wang Z, Banka S, Jackson A, Zhang YM, Wei ZJ, H\u00fcning I, Brunet T, Ohashi H, Thomas MF, Bupp C, Miyake N, Matsumoto N, Mendoza-Londono R, Costain G, Hahn G, Di Donato N, Yigit G, Yamada T, Nishimura G, Ansel KM, Wollnik B, Hrab\u011b de Angelis M, M\u00e9garban\u00e9 A, Rosenfeld JA, Heissmeyer V, Ikegawa S, Campeau PM<br \/>\n<em>Am J Hum Genet<\/em> 2023 Jul 6;110(7):1068-1085. doi: 10.1016\/j.ajhg.2023.06.001. Epub 2023 Jun 22.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/37131188\" target=\"_blank\" rel=\"noopener noreferrer\"><b>The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued<\/b><br \/>\n<\/a>Schr\u00f6der S, Yigit G, Li Y, Altm\u00fcller J, B\u00fcttel HM, Fiedler B, Kretzschmar C, N\u00fcrnberg P, Seeger J, Serpieri V, Valente EM, Wollnik B, Boltshauser E, Brockmann K<br \/>\n<em>Orphanet J Rare Dis<\/em> 2023 May 2;18(1):101. doi: 10.1186\/s13023-023-02706-5.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/36943452\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly<\/b><br \/>\n<\/a>Schnabel F, Schuler E, Al-Maawali A, Chaurasia A, Syrbe S, Al-Kindi A, Bhavani GS, Shukla A, Altm\u00fcller J, N\u00fcrnberg P, Banka S, Girisha KM, Li Y, Wollnik B, Yigit G<br \/>\n<em>Hum Genet<\/em> 2023 Apr;142(4):543-552. doi: 10.1007\/s00439-023-02528-2. Epub 2023 Mar 21.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/36576126\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the Guanine Exchange Domain<\/b><br \/>\n<\/a>Averdunk L, Al-Thihli K, Surowy H, L\u00fcdecke HJ, Drechsler M, Yigit G, Smorag L, Hallak BA, Li Y, Altm\u00fcller J, Guthoff T, Wallot M, N\u00fcrnberg P, Wollnik B, Abou Jamra R, Al-Maawali A, Wieczorek D<br \/>\n<em>Clin Genet. <\/em> 2023 103(4):484-491. doi: 10.1111\/cge.14290.<br \/>\n[\/vc_column_text][\/vc_column][\/mk_page_section][mk_page_section min_height=&#8221;0&#8243; padding_top=&#8221;0&#8243; padding_bottom=&#8221;0&#8243; section_id=&#8221;2022&#8243; sidebar=&#8221;sidebar-1&#8243;][vc_column][mk_padding_divider size=&#8221;120&#8243;][\/vc_column][\/mk_page_section][mk_page_section sidebar=&#8221;sidebar-1&#8243;][vc_column][vc_column_text el_class=&#8221;titlebox forschung-02&#8243; css=&#8221;.vc_custom_1644413811635{margin-bottom: 0px !important;}&#8221;]\n<h2>2022<\/h2>\n[\/vc_column_text][mk_padding_divider size=&#8221;25&#8243; visibility=&#8221;visible-sm&#8221;][mk_padding_divider visibility=&#8221;hidden-sm&#8221;][vc_column_text el_class=&#8221;padding25lr publikationen&#8221; css=&#8221;.vc_custom_1679495462607{margin-bottom: 0px !important;}&#8221;]<a style=\"text-decoration: none;\" href=\"https:\/\/www.frontiersin.org\/articles\/10.3389\/fcell.2022.1025332\/full\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Somatic mosaicism in <em>STAG2<\/em>-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum<\/b><br \/>\n<\/a>Schmidt J, Dreha-Kulaczewski S, Zafeiriou M-P, Schreiber M-K, Wilken B, Funke R, Neuhofer CM, Altm\u00fcller J, Thiele H, N\u00fcrnberg P, Biskup S, Li Y, Zimmermann WH, Kaulfu\u00df S, Yigit G and Wollnik B<br \/>\n<em>Front. Cell Dev. Biol.<\/em> 2022 Nov 16;10:1025332. doi: 10.3389\/fcell.2022.1025332.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/35884510\" target=\"_blank\" rel=\"noopener noreferrer\"><b>TP53-Status-Dependent Oncogenic EZH2 Activity in Pancreatic Cancer<\/b><br \/>\n<\/a>Versemann L, Patil S, Steuber B, Zhang Z, Kopp W, Krawczyk HE, Kaulfu\u00df S, Wollnik B, Str\u00f6bel P, Neesse A, Singh SK, Ellenrieder V, Hessmann E<br \/>\n<em>Cancers (Basel)<\/em> 2022 Jul 15;14(14):3451. doi: 10.3390\/cancers14143451.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/35790048\" target=\"_blank\" rel=\"noopener noreferrer\"><b>WARS1 and SARS1: two tRNA synthetases implicated in autosomal recessive microcephaly<\/b><br \/>\n<\/a>B\u00f6gershausen N, Krawczyk HE, Jamra RA, Lin SJ, Yigit G, H\u00fcning I, Polo AM, Vona B, Huang K, Schmidt J, Altm\u00fcller J, Luppe J, Platzer K, D\u00f6rgeloh BB, Busche A, Biskup S, Mendes MI, Smith DEC, Salomons GS, Zibat A, B\u00fcltmann E, N\u00fcrnberg P, Spielmann M, Lemke JR, Li Y, Zenker M, Varshney GK, Hillen HS, Kratz CP, Wollnik B<br \/>\n<em>Hum Mutat.<\/em> 2022 Oct;43(10):1454-1471. doi: 10.1002\/humu.24430. Epub 2022 Jul 21.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/35670639\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Progressive frontal intraosseous lipoma: Detection of the mosaic AKT1 variant discloses Proteus syndrome<\/b><br \/>\n<\/a>Schmidt J, Bremmer F, Brockmann K, Kaulfu\u00df S, Wollnik B<br \/>\n<em>Clin Genet. <\/em>2022 Sep;102(3):239-241. doi: 10.1111\/cge.14174. Epub 2022 Jun 17.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/35393770\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Evaluation of growth, puberty, osteoporosis, and the response to long-term bisphosphonate therapy in four patients with osteoporosis-pseudoglioma syndrome<\/b><\/a><br \/>\nKarakilic-Ozturan E, Altunoglu U, Ozturk AP, Kardelen Al AD, Yavas Abali Z, Avci S, Wollnik B, Poyrazoglu S, Bas F, Uyguner ZO, Kayserili H, Darendeliler F<br \/>\n<em>Am J Med Genet A<\/em> 2022 Jul;188(7):2061-2070. doi: 10.1002\/ajmg.a.62742. Epub 2022 Apr 8.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/35218564\" target=\"_blank\" rel=\"noopener noreferrer\"><b> Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome <\/b><\/a><br \/>\nG\u00f6nenc II, Elcioglu NH, Martinez Grijalva C, Aras S, Gro\u00dfmann N, Praulich I, Altm\u00fcller J, Kaulfu\u00df S, Li Y, N\u00fcrnberg P, Burfeind P, Yigit G, Wollnik B.<br \/>\n<em> Clin Genet <\/em> 2022 May;101(5-6):559-564. doi: 10.1111\/cge.14125. Epub 2022 Mar 11.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/35260714\" target=\"_blank\" rel=\"noopener noreferrer\"><b> A novel single-cell RNA-sequencing approach and its applicability connecting genotype to phenotype in ageing disease <\/b><br \/>\n<\/a> Shomroni O, Sitte M, Schmidt J, Parbin S, Ludewig F, Yigit G, Zelarayan LC, Streckfuss-B\u00f6meke K, Wollnik B, Salinas G<br \/>\n<em> Sci Rep.<\/em> 2022 Mar 8;12(1):4091. doi: 10.1038\/s41598-022-07874-1.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/35099000\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Single-cell transcription profiles in Bloom syndrome patients link BLM deficiency with altered condensin complex expression signatures<\/b><br \/>\n<\/a>G\u00f6nenc II, Wolff A, Schmidt J, Zibat A, M\u00fcller C, Cyganek L, Argyriou L, R\u00e4schle M, Yigit G, Wollnik B.<br \/>\n<em>Hum Mol Genet.<\/em> 2022 Jul 7;31(13):2185-2193. doi: 10.1093\/hmg\/ddab373.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/34541672\" target=\"_blank\" rel=\"noopener noreferrer\"><b>RNF43 pathogenic Germline variant in a family with colorectal cancer<\/b><br \/>\n<\/a>Mikaeel RR, Young JP, Li Y, Poplawski NK, Smith E, Horsnell M, Uylaki W, Tomita Y, Townsend AR, Feng J, Zibat A, Kaulfu\u00df S, M\u00fcller C, Yigit G, Wollnik B, Scott H, Rawlings L, Henry D, Vakulin C, Dubowsky A, Price TJ.<br \/>\n<em>Clin Genet.<\/em> 2022 Jan;101(1):122-126. doi: 10.1111\/cge.14064. Epub 2021 Sep 27.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/34761457\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Survey of germline variants in cancer-associated genes in young adults with colorectal cancer<\/b><br \/>\n<\/a>Mikaeel RR, Young JP, Li Y, Smith E, Horsnell M, Uylaki W, Tapia Rico G, Poplawski NK, Hardingham JE, Tomita Y, Townsend AR, Feng J, Zibat A, Kaulfu\u00df S, M\u00fcller C, Yigit G, Wollnik B, Price TJ<br \/>\n<em>Genes Chromosomes Cancer.<\/em> 2022 Feb;61(2):105-113. doi: 10.1002\/gcc.23011. Epub 2021 Nov 18.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/34644002\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Genomic basis of syndromic short stature in an Algerian patient cohort<\/b><br \/>\n<\/a>Moosa S, Chentli F, Altm\u00fcller J, B\u00f6gershausen N, N\u00fcrnberg P, Yigit G, Li Y, Wollnik B<br \/>\n<em>Am J Med Genet A.<\/em> 2022 Feb;188(2):606-612. doi: 10.1002\/ajmg.a.62532. Epub 2021 Oct 13.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/34629465\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Familial cleft tongue caused by a unique translation initiation codon variant in TP63<\/b><br \/>\n<\/a>Schmidt J, Schreiber G, Altm\u00fcller J, Thiele H, N\u00fcrnberg P, Li Y, Kaulfu\u00df S, Funke R, Wilken B, Yigit G, Wollnik B<br \/>\n<em>Eur J Hum Genet.<\/em> 2022 Feb;30(2):211-218. doi: 10.1038\/s41431-021-00967-x. Epub 2021 Oct 11.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/33967277\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Deletion of the last two exons of FGF10 in a family with LADD syndrome and pulmonary acinar hypoplasia<\/b><\/a><br \/>\nWade EM, Parthasarathy P, Mi J, Morgan T, Wollnik B, Robertson SP, Cundy T<br \/>\n<em>Eur J Hum Genet<\/em> 2022 Apr;30(4):480-484. doi: 10.1038\/s41431-021-00902-0. Epub 2021 May 9.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/34172529\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state<\/b><\/a><br \/>\nYigit G, Sheffer R, Daana M, Li Y, Kaygusuz E, Mor-Shakad H, Altm\u00fcller J, N\u00fcrnberg P, Douiev L, Kaulfuss S, Burfeind P, Wollnik B, Brockmann K<br \/>\n<em>J Med Genet<\/em> 2022 Jun;59(6):549-553. doi: 10.1136\/jmedgenet-2021-107769. Epub 2021 Jun 25.[\/vc_column_text][\/vc_column][\/mk_page_section][mk_page_section min_height=&#8221;0&#8243; padding_top=&#8221;0&#8243; padding_bottom=&#8221;0&#8243; section_id=&#8221;2021&#8243; sidebar=&#8221;sidebar-1&#8243;][vc_column][mk_padding_divider size=&#8221;120&#8243;][\/vc_column][\/mk_page_section][mk_page_section sidebar=&#8221;sidebar-1&#8243;][vc_column][vc_column_text el_class=&#8221;titlebox forschung-02&#8243; css=&#8221;.vc_custom_1769431532056{margin-bottom: 0px !important;}&#8221;]\n<h2>2021 and before<\/h2>\n[\/vc_column_text][mk_padding_divider visibility=&#8221;hidden-sm&#8221;][mk_padding_divider size=&#8221;25&#8243; visibility=&#8221;visible-sm&#8221;][vc_row_inner][vc_column_inner][vc_empty_space][\/vc_column_inner][\/vc_row_inner][vc_column_text el_class=&#8221;padding25lr publikationen&#8221; css=&#8221;.vc_custom_1769431521923{margin-bottom: 0px !important;}&#8221;]<a style=\"text-decoration: none;\" href=\"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/medgen-2021-2094\/html\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Cellular models and therapeutic perspectives in hypertrophic cardiomyopathy<\/b><br \/>\n<\/a>Yigit G, Wollnik B.<br \/>\n<em>Medizinische Genetik<\/em> 2021;33(3): 235-243. doi: 10.1515\/medgen-2021-2094.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/34545459\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Biallelic variants in YRDC cause a developmental disorder with progeroid features<\/b><br \/>\n<\/a>Schmidt J, Goergens J, Pochechueva T, Kotter A, Schwenzer N, Sitte M, Werner G, Altm\u00fcller J, Thiele H, N\u00fcrnberg P, Isensee J, Li Y, M\u00fcller C, Leube B, Reinhardt HC, Hucho T, Salinas G, Helm M, Jachimowicz RD, Wieczorek D, Kohl T, Lehnart SE, Yigit G, Wollnik B<br \/>\n<em>Hum Genet<\/em> 2021 Dec;140(12):1679-1693. doi: 10.1007\/s00439-021-02347-3. Epub 2021 Sep 20.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/34400370\" target=\"_blank\" rel=\"noopener noreferrer\"><b>MFSD2A-associated primary microcephaly &#8211; Expanding the clinical and mutational spectrum of this ultra-rare disease<\/b><br \/>\n<\/a>Khuller K, Yigit G, Grijalva CM, Altm\u00fcller J, Thiele H, N\u00fcrnberg P, Elcioglu NH, Yeter B, Hehr U, Stein A, Della Marina A, K\u00f6ninger A, Depienne C, Kaiser FJ, Wollnik B, Kuechler A<br \/>\n<em>Eur J Med Genet<\/em> 2021 Aug 13:104310. doi: 10.1016\/j.ejmg.2021.104310. Epub ahead of print.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/34244665\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies<\/b><br \/>\n<\/a>Iqbal M, Maroofian R, \u00c7avdarl\u0131 B, Riccardi F, Field M, Banka S, Bubshait DK, Li Y, Hertecant J, Baig SM, Dyment D, Efthymiou S, Abdullah U, Makhdoom EUH, Ali Z, Scherf de Almeida T, Molinari F, Mignon-Ravix C, Chabrol B, Antony J, Ades L, Pagnamenta AT, Jackson A, Douzgou S; Genomics England Research Consortium, Beetz C, Karageorgou V, Vona B, Rad A, Baig JM, Sultan T, Alvi JR, Maqbool S, Rahman F, Toosi MB, Ashrafzadeh F, Imannezhad S, Karimiani EG, Sarwar Y, Khan S, Jameel M, Noegel AA, Budde B, Altm\u00fcller J, Motameny S, H\u00f6hne W, Houlden H, N\u00fcrnberg P, Wollnik B, Villard L, Alkuraya FS, Osmond M, Hussain MS, Yigit G<br \/>\n<em>Genet Med.<\/em> 2021 Jul 9. doi: 10.1038\/s41436-021-01260-4. Epub ahead of print.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/34090962\" target=\"_blank\" rel=\"noopener noreferrer\"><b>The folate antagonist methotrexate diminishes replication of the coronavirus SARS-CoV-2 and enhances the antiviral efficacy of remdesivir in cell culture models<\/b><br \/>\n<\/a>Stegmann KM, Dickmanns A, Gerber S, Nikolova V, Klemke L, Manzini V, Schl\u00f6sser D, Bierwirth C, Freund J, Sitte M, Lugert R, Salinas G, Meister TL, Pfaender S, G\u00f6rlich D, Wollnik B, Gro\u00df U, Dobbelstein M<br \/>\n<em>Virus Res<\/em> 2021 Jun 3:198469. doi: 10.1016\/j.virusres.2021.198469. Epub ahead of print.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/34021162\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology<\/b><br \/>\n<\/a>Kargapolova Y, Rehimi R, Kayserili H, Br\u00fchl J, Sofiadis K, Zirkel A, Palikyras S, Mizi A, Li Y, Yigit G, Hoischen A, Frank S, Russ N, Trautwein J, van Bon B, Gilissen C, Laugsch M, Gusmao EG, Josipovic N, Altm\u00fcller J, N\u00fcrnberg P, L\u00e4ngst G, Kaiser FJ, Watrin E, Brunner H, Rada-Iglesias A, Kurian L, Wollnik B, Bouazoune K, Papantonis A.<br \/>\n<em>Nat Commun<\/em>. 2021 May 21;12(1):3014. doi: 10.1038\/s41467-021-23327-1<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/33486968\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Caveolin3 Stabilizes McT1-Mediated Lactate\/Proton Transport in Cardiomyocytes<\/b><br \/>\n<\/a>Peper J, Kownatzki-Danger D, Weninger G, Seibertz F, Pronto JR, Sutanto H, Pacheu Grau D, Hindmarsh R, Brandenburg S, Kohl T, Hasenfu\u03b2 G, Gotthardt M, Rog-Zielinska EA, Wollnik B, Rehling P, Urlaub H, Wegener JW, Heijman J, Voigt N, Cyganek L, Lenz C, Lehnart SE.<br \/>\n<em>Circ Res.<\/em> 2021 Jan 25. doi: 10.1161\/CIRCRESAHA.119.316547. Epub ahead of print.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/33427397\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study<\/b><br \/>\n<\/a>Gangfu\u00df A, Yigit G, Altm\u00fcller J, N\u00fcrnberg P, Czeschik JC, Wollnik B, B\u00f6gershausen N, Burfeind P, Wieczorek D, Kaiser F, Roos A, K\u00f6lbel H, Schara-Schmidt U, Kuechler A.<br \/>\n<em>Am J Med Genet A<\/em>. 2021 Jan 11. doi: 10.1002\/ajmg.a.62070. Epub ahead of print.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/32860237\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Premature ageing disorders &#8211; a clinical and genetic compendium<\/b><br \/>\n<\/a>Schnabel F, Kornak U, Wollnik B.<br \/>\n<em>Clin Genet.<\/em> 2021 Jan;99(1):3-28. doi: 10.1111\/cge.13837. Epub 2020 Sep 29.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/33283961\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Aplasia cutis congenita in a CDC42-related developmental phenotype<\/b><br \/>\n<\/a>Schnabel F, Kamphausen SB, Funke R, Kaulfu\u00df S, Wollnik B, Zenker M.<br \/>\n<em>Am J Med Genet A<\/em> 2020, Dec 7, doi: 10.1002\/ajmg.a.62009. Online ahead of print.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/33024317\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia<\/b><br \/>\n<\/a>Schr\u00f6der S, Li Y, Yigit G, Altm\u00fcller J, Bader I, Bevot A, Biskup S, Dreha-Kulaczewski S, Christoph Korenke G, Kottke R, Mayr JA, Preisel M, Toelle SP, Wente-Schulz S, Wortmann SB, Hahn H, Boltshauser E, Uhmann A, Wollnik B, Brockmann K.<br \/>\n<em>Genet Med<\/em> 2020, Oct 7, doi: 10.1038\/s41436-020-00979-w. Online ahead of print.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/32882744\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Neugeborenes mit Nasenagenesie: Neonatologische Herausforderungen bei der Versorgung eines Neugeborenen mit Bosma-Arhinie-Mikrophthalmie-Syndrom (BAMS)<\/b><br \/>\n<\/a>Stromiedel H, Van Quekelberghe C, Yigit G, Naimi AA, Bahlmann F, Sader R, Guchlerner M, L\u00fcchtenberg M, Latta K, Cho CH, Wollnik B, Kunzmann S.<br \/>\n<em>Z Geburtshilfe Neonatol.<\/em> 2020, 224(6):377-380, doi: 10.1055\/a-1224-4465.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/32623905\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome-Associated Cardiomyopathy<\/b><br \/>\n<\/a>Hanses U, Kleinsorge M, Roos L, Yigit G, Li Y, Barbarics B, El-Battrawy I, Lan H, Tiburcy M, Hindmarsh R, Lenz C, Salinas G, Diecke S, M\u00fcller C, Adham I, Altm\u00fcller J, N\u00fcrnberg P, Paul T, Zimmermann WH, Hasenfuss G, Wollnik B, Cyganek L.<br \/>\n<em>Circulation<\/em> 2020, 142(11):1059-1076, doi: 10.1161\/CIRCULATIONAHA.119.044794.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/32514796\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis<\/b><br \/>\n<\/a>Ganapathi M, Argyriou L, Mart\u00ednez-Azor\u00edn F, Morlot S, Yigit G, Lee TM, Auber B, von Gise A, Petrey DS, Thiele H, Cyganek L, Sabater-Molina M, Ahimaz P, Cabezas-Herrera J, Sorl\u00ed-Garc\u00eda M, Zibat A, Siegelin MD, Burfeind P, Buchovecky CM, Hasenfuss G, Honig B, Li Y, Iglesias AD, Wollnik B.<br \/>\n<em>Hum Genet. <\/em>2020, 139(11):1443-1454, doi: 10.1007\/s00439-020-02188-6.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/32483341\" target=\"_blank\" rel=\"noopener noreferrer\"><b>A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome<\/b><br \/>\n<\/a>Drivas TG, Li D, Nair D, Alaimo JT, Alders M, Altm\u00fcller J, Barakat TS, Bebin EM, Bertsch NL, Blackburn PR, Blesson A, Bouman AM, Brockmann K, Brunelle P, Burmeister M, Cooper GM, Denecke J, Dieux-Co\u00ebslier A, Dubbs H, Ferrer A, Gal D, Bartik LE, Gunderson LB, Hasadsri L, Jain M, Karimov C, Keena B, Klee EW, Kloth K, Lace B, Macchiaiolo M, Marcadier JL, Milunsky JM, Napier MP, Ortiz-Gonzalez XR, Pichurin PN, Pinner J, Powis Z, Prasad C, Radio FC, Rasmussen KJ, Renaud DL, Rush ET, Saunders C, Selcen D, Seman AR, Shinde DN, Smith ED, Smol T, Snijders Blok L, Stoler JM, Tang S, Tartaglia M, Thompson ML, van de Kamp JM, Wang J, Weise D, Weiss K, Woitschach R, Wollnik B, Yan H, Zackai EH, Zampino G, Campeau P, Bhoj E.<br \/>\n<em>Eur J Hum Genet.<\/em> 2020, 28(10):1422-1431, doi: 10.1038\/s41431-020-0654-4.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/32424618\" target=\"_blank\" rel=\"noopener noreferrer\"><b>De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome<\/b><br \/>\n<\/a>Ufartes R, Berger H, Till K, Salinas G, Sturm M, Altm\u00fcller J, N\u00fcrnberg P, Thiele H, Funke R, Apeshiotis N, Langen H, Wollnik B, Borchers A, Pauli S<br \/>\n<em>Hum Genet.<\/em> 2020, 139(11):1363-1379, doi: 10.1007\/s00439-020-02175-x.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/32256299\" target=\"_blank\" rel=\"noopener noreferrer\"><b>A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia<\/b><br \/>\n<\/a>Neuhofer CM, Funke R, Wilken B, Knaus A, Altm\u00fcller J, N\u00fcrnberg P, Li Y, Wollnik B, Burfeind P, Pauli S<br \/>\n<em>Mol Syndromol<\/em> 2020, 11:30-37, doi: 10.1159\/000505797.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/32212377\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Human RAD50 deficiency: Confirmation of a distinctive phenotype<\/b><br \/>\n<\/a>Ragamin A, Yigit G, Bousset K, Beleggia F, Verheijen FW, de Wit MY, Strom TM, D\u00f6rk T, Wollnik B, Mancini GMS<br \/>\n<em>Am J Med Genet A<\/em> 2020, 182(6):1378-1386. doi: 10.1002\/ajmg.a.61570.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/32065705\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Hereditary angioedema in a single family with specific mutations in both plasminogen and SERPING1 genes<\/b><br \/>\n<\/a>Bork K, Zibat A, Ferrari DM, Wollnik B, Sch\u00f6n MP, Wulff K, Lippert U<br \/>\n<em>J Dtsch Dermatol Ges<\/em> 2020, 18(3):215-224. German. doi: 10.1111\/ddg.14036_g.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/31821646\" target=\"_blank\" rel=\"noopener noreferrer\"><b>The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype<\/b><br \/>\n<\/a>Yigit G, Saida K, DeMarzo D, Miyake N, Fujita A, Yang Tan T, White SM, Wadley A, Toliat MR, Motameny S, Franitza M, Stutterd CA, Chong PF, Kira R, Sengoku T, Ogata K, Guillen Sacoto MJ, Fresen C, Beck BB, N\u00fcrnberg P, Dieterich C, Wollnik B, Matsumoto N, Altm\u00fcller J<br \/>\n<em>Hum Mutat<\/em> 2020, 41(3):591-599, doi: 10.1002\/humu.23964.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/31821646\" target=\"_blank\" rel=\"noopener noreferrer\"><b>The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype<\/b><br \/>\n<\/a>Yigit G, Saida K, DeMarzo D, Miyake N, Fujita A, Yang Tan T, White SM, Wadley A, Toliat MR, Motameny S, Franitza M, Stutterd CA, Chong PF, Kira R, Sengoku T, Ogata K, Guillen Sacoto MJ, Fresen C, Beck BB, N\u00fcrnberg P, Dieterich C, Wollnik B, Matsumoto N, Altm\u00fcller J<br \/>\n<em>Hum Mutat<\/em> 2019 Dec 10<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/31564437\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta<br \/>\n<\/b><\/a>Moosa S, Yamamoto GL, Garbes L, Keupp K, Beleza-Meireles A, Moreno CA, Valadares ER, de Sousa SB, Maia S, Saraiva J, Honjo RS, Kim CA, Cabral de Menezes H, Lausch E, Lorini PV, Lamounier A, Carniero TCB, Giunta C, Rohrbach M, Janner M, Semler O, Beleggia F, Li Y, Yigit G, Reintjes N, Altm\u00fcller J, N\u00fcrnberg P, Cavalcanti DP, Zabel B, Warman ML, Bertola DR, Wollnik B, Netzer C.<br \/>\n<em>Am J Hum Genet.<\/em> 2019 Sep 26<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/31321300\" target=\"_blank\" rel=\"noopener noreferrer\"><b>HACE1 deficiency leads to structural and functional neurodevelopmental defects<\/b><\/a><br \/>\nNagy V, Hollstein R, Pai TP, Herde MK, Buphamalai P, Moeseneder P, Lenartowicz E, Kavirayani A, Korenke GC, Kozieradzki I, Nitsch R, Cicvaric A, Monje Quiroga FJ, Deardorff MA, Bedoukian EC, Li Y, Yigit G, Menche J, Per\u00e7in EF, Wollnik B, Henneberger C, Kaiser FJ, Penninger JM<br \/>\n<em>Neurol Genet<\/em> 2019, 5(3): e330, doi: 10.1212\/NXG.0000000000000330<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/31164752\" target=\"_blank\" rel=\"noopener noreferrer\"><b>PEDIA: prioritization of exome data by image analysis<\/b><\/a><br \/>\nHsieh T-C, Mensah MA, Pantel JT, Aguilar D, Bar O, Bayat A, Becerra-Solano L, Bentzen HB, Biskup S, Borisov O, Braaten O, Ciaccio C, Coutelier M, Cremer K, Danyel M, Daschkey S, Eden HD, Devriendt K, Wilson S, Douzgou S, \u0110uki\u0107 D, Ehmke N, Fauth C, Fischer-Zirnsak B, Fleischer N, Gabriel H, Graul-Neumann L, Gripp KW, Gurovich Y, Gusina A, Haddad N, Hajjir N, Hanani Y, Hertzberg J, Hoertnagel K, Howell J, Ivanovski I, Kaindl A, Kamphans T, Kamphausen S, Karimov C, Kathom H, Keryan A, Knaus A, K\u00f6hler S, Kornak U, Lavrov A, Leitheiser M, Lyon GJ, Mangold E, Reina PM, Carrascal AM, Mitter D, Herrador LM, Nadav G, N\u00f6then M, Orrico A, Ott C-E, Park K, Peterlin B, P\u00f6lsler L, Raas-Rothschild A, Randolph L, Revencu N, Fagerberg CR, Robinson PN, Rosnev S, Rudnik S, Rudolf G, Schatz U, Schossig A, Schubach M, Shanoon O, Sheridan E, Smirin-Yosef P, Spielmann M, Suk E-K, Sznajer Y, Thiel CT, Thiel G, Verloes A, Vrecar I, Wahl D, Weber I, Winter K, Wi\u015bniewska M, Wollnik B, Yeung MW, Zhao M, Zhu N, Zschocke J, Mundlos S, Horn D, Krawitz PM.<br \/>\n<em>Genet Med<\/em> 2019 Jun 5 doi: 10.1038\/s41436-019-0566-2. [Epub ahead of print]\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/31041400\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ<\/b><\/a><br \/>\nKalasova I, Hanzlikova H, Gupta N, Li Y, Altm\u00fcller J, Reynolds JJ, Stewart GS, Wollnik B, Yigit G, Caldecott KW.<br \/>\n<em>Neurol Genet<\/em> 2019 Apr;5(2):e320.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/30862798\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly<\/b><\/a><br \/>\nLahrouchi N, George A, Ratbi I, Schneider R, Elalaoui SC, Moosa S, Bharti S, Sharma R, Abu-Asab M, Onojafe F, Adadi N, Lodder EM, Laarabi F-Z, Lamsyah Y, Elorch H, Chebbar I, Postma AV, Lougaris V, Plebani A, Altmueller J, Kyrieleis H, Meiner V, McNeill H, Bharti K, Lyonnet S, Wollnik B, Henrion-Caude A, Berraho A, Hildebrandt F, Bezzina CR, Brooks BP, Sefiani A.<br \/>\n<em>Nat Commun<\/em> 2019 Mar 12;10(1):1180; doi: 10.1038\/s41467-019-08547-w.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/30698748\" target=\"_blank\" rel=\"noopener noreferrer\"><b>SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite<\/b><\/a><br \/>\nDion C, Roche S, Laberthonni\u00e8re C, Broucqsault N, Mariot V, Xue S, Gurzau AD, Nowak A, Gordon CT, Gaillard M-C, El-Yazidi C, Thomas M, Schlupp-Robaglia A, Missirian C, Malan V, Ratbi L, Sefiani A, Wollnik B, Binetruy B, Salort Campana E, Attarian S, Bernard R, Nguyen K, Amiel J, Dumonceaux J, Murphy JM, D\u00e9jardin J, Blewitt ME, Reversade B, Robin JD, Magdinier F.<br \/>\n<em>Nucleic Acids Res<\/em> 2019 Jan 30; doi: 10.1093\/nar\/gkz005 [Epub ahead of print].<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/30580479\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Hallermann-Streiff syndrome: A missing molecular link for a highly recognizable syndrome<\/b><\/a><br \/>\nSchmidt J, Wollnik B.<br \/>\n<em>Am J Med Genet C Semin Med Genet<\/em> 2018 Dec;178(4):398-406.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/30425916\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Floating-Harbor Syndrome: Presentation of the First Romanian Patient with a SRCAP Mutation and Review of the Literature<\/b><\/a><br \/>\nBudisteanu M, B\u00f6gershausen N, Papuc SM, Moosa S, Thoenes M, Riga D, Arghir A, Wollnik B.<br \/>\n<em>Balkan J Med Genet.<\/em> 2018 Jun;21(1):83\u20136.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/30349098\" target=\"_blank\" rel=\"noopener noreferrer\"><b>The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome<\/b><\/a><br \/>\nvan der Sluijs EPJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-W\u00f6dl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, L\u00f3pez-Gonz\u00e1lez V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Sanchis Calvo A, Simsek-Kiper PO, Soares G, Solaeche L, Mujgan Sonmez F, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE.<br \/>\n<em>Genet Med.<\/em> 2018 Oct 22<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/30323018\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome<\/b><\/a><br \/>\nPaolacci S, Li Y, Agolini E, Bellacchio E, Arboleda-Bustos CE, Carrero D, Bertola D, Al-Gazali L, Alders M, Altm\u00fcller J, Arboleda G, Beleggia F, Bruselles A, Ciolfi A, Gillessen-Kaesbach G, Krieg T, Mohammed S, M\u00fcller C, Novelli A, Ortega J, Sandoval A, Velasco G, Yigit G, Arboleda H, Lopez-Otin C, Wollnik B, Tartaglia M, Hennekam RC.<br \/>\n<em>J Med Genet.<\/em> 2018 Oct 15; pii: jmedgenet-2018-105528. doi: 10.1136\/jmedgenet-2018-105528.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/30120217\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome<\/b><\/a><br \/>\nPauli S, Altm\u00fcller J, Schr\u00f6der S, Ohlenbusch A, Dreha-Kulaczewski S, Bergmann C, N\u00fcrnberg P, Thiele H, Li Y, Wollnik B, Brockmann K.<br \/>\n<em>J Med Genet.<\/em> 2018 Aug 17; pii: jmedgenet-2018-105470. doi: 10.1136\/jmedgenet-2018-105470.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/30057030\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Mutations in TOP3A cause a Bloom syndrome-like disorder<\/b><\/a><br \/>\nMartin C-A, Sarl\u00f3s K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altm\u00fcller J, Aza-Carmona M, Barakat BAY, Barraza-Garc\u00eda J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Dhahrabi HAM, Elcioglu NH, GOSgene, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, N\u00fcrnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesais A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP.<br \/>\n<em>Am J Hum Genet.<\/em> 2018 Aug 2;103(2):221\u201331.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/30123105\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Mutational landscapes and phenotypic spectrum of SWI\/SNF-related intellectual disability disorders<\/b><\/a><br \/>\nB\u00f6gershausen N, Wollnik B.<br \/>\n<em> Front Mol Neurosci.<\/em> 2018;11:252.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/30039845\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Uncommon IFITM5 mutation associated with severe skeletal deformity in osteogenesis imperfecta<\/b><\/a><br \/>\nRodriguez Celin M, Moosa S, Fano V.<br \/>\n<em>Ann Hum Genet.<\/em> 2018 Jul 24;<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/29943241\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Moderne humangenetische Beratung: Praktische Aspekte am Beispiel der hypertrophen Kardiomyopathie<\/b><\/a><br \/>\nCzepluch F, Hasenfu\u00df G, Wollnik B.<br \/>\n<em> Internist<\/em> 2018 Jun 25. doi: 10.1007\/s00108-018-0452-z. [Epub ahead of print] Review. German.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/29457878\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Genetic determinants of heart failure: facts and numbers<\/b><\/a><br \/>\nCzepluch FS, Wollnik B, Hasenfu\u00df G.<br \/>\n<em>ESC Heart Fail<\/em> 2018 Feb 19. doi: 10.1002\/ehf2.12267. [Epub ahead of print]\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/29429572\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome<\/b><\/a><br \/>\nVasileiou G, Vergarajauregui S, Endele S, Popp B, B\u00fcttner C, Ekici AB, Gerard M, Bramswig NC, Albrecht B, Clayton-Smith J, Morton J, Tomkins S, Low K, Weber A, Wenzel M, Altm\u00fcller J, Li Y, Wollnik B, Hoganson G, Plona M-R, Cho MT, Thiel CT, L\u00fcdecke H-J, Strom TM, Calpena E, Wilkie AOM, Wieczorek D, Engel FB, Reis A.<br \/>\n<em>Am J Hum Genet<\/em> 2018 Feb 5. pii: S0002-9297(18)30016-8. doi: 10.1016\/j.ajhg.2018.01.014<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/29243349\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Autosomal recessive primary microcephaly due to ASPM mutations: An update<\/b><\/a><br \/>\nL\u00e9tard P, Drunat S, Vial Y, Duerinckx S, Ernault A, Amram D, Arpin S, Bertoli M, Busa T, Ceulemans B, Desir J, Doco-Fenzy M, Elalaoui SC, Devriendt K, Faivre L, Francannet C, Genevi\u00e8ve D, G\u00e9rard M, Gitiaux C, Julia S, Lebon S, Lubala T, Mathieu-Dramard M, Maurey H, Metreau J, Nasserereddine S, Nizon M, Pierquin G, Pouvreau N, Rivier-Ringenbach C, Rossi M, Schaefer E, Sefiani A, Sigaudy S, Sznajer Y, Tunca Y, Guilmin Crepon S, Alberti C, Elmaleh-Berg\u00e8s M, Benzacken B, Wollni(c)k B, Woods CG, Rauch A, Abramowicz M, El Ghouzzi V, Gressens P, Verloes A, Passemard S.<br \/>\n<em>Hum Mutat<\/em> 2018 Mar;39(3):319-332. doi: 10.1002\/humu.23381<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/29100093\" target=\"_blank\" rel=\"noopener noreferrer\"><b>De novo mutations in SLC25A24 cause a craniosynostosis syndrome with hypertrichosis, progeroid appearance, and mitochondrial dysfunction<\/b><\/a><br \/>\nEhmke N, Graul-Neumann L, Smorag L, Koenig R, Segebrecht L, Magoulas P, Scaglia F, Kilic E, Hennig AF, Adolphs N, Saha N, Fauler B, Kalscheuer VM, Hennig F, Altm\u00fcller J, Netzer C, Thiele H, N\u00fcrnberg P, Yigit G, J\u00e4ger M, Hecht J, Kr\u00fcger U, Mielke T, Krawitz PM, Horn D, Schuelke M, Mundlos S, Bacino CA, Bonnen PE, Wollnik B, Fischer-Zirnsak B, Kornak U.<br \/>\n<em>Am J Hum Genet<\/em> 2017 Nov 2;101(5):833-843. doi: 10.1016\/j.ajhg.2017.09.016.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28886341\" target=\"_blank\" rel=\"noopener noreferrer\"><b>CDK10 mutations in humans and mice cause severe growth retardation, spine malformations, and developmental delays<\/b><\/a><br \/>\nWindpassinger C, Piard J, Bonnard C, Alfadhel M, Lim S, Bisteau X, Blouin S, Ali NB, Ng AYJ, Lu H, Tohari S, Talib SZA, van Hul N, Caldez MJ, Van Maldergem L, Yigit G, Kayserili H, Youssef SA, Coppola V, de Bruin A, Tessarollo L, Choi H, Rupp V, Roetzer K, Roschger P, Klaushofer K, Altm\u00fcller J, Roy S, Venkatesh B, Ganger R, Grill F, Ben Chehida F, Wollnik B, Altunoglu U, Al Kaissi A, Reversade B, Kaldis P.<br \/>\n<em>Am J Hum Genet<\/em> 2017 Sep 7;101(3):391-403. doi: 10.1016\/j.ajhg.2017.08.003.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28818208\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Catecholamine-dependent \u03b2-adrenergic signaling in a pluripotent stem cell model of Takotsubo cardiomyopathy<\/b><\/a><br \/>\nBorchert T, H\u00fcbscher D, Guessoum CI, Lam TD, Ghadri JR, Schellinger IN, Tiburcy M, Liaw NY, Li Y, Haas J, Sossalla S, Huber MA, Cyganek L, Jacobshagen C, Dressel R, Raaz U, Nikolaev VO, Guan K, Thiele H, Meder B, Wollnik B, Zimmermann WH, L\u00fcscher TF, Hasenfuss G, Templin C, Streckfuss-B\u00f6meke K.<br \/>\n<em>J Am Coll Cardiol<\/em> 2017 Aug 22;70(8):975-991. doi: 10.1016\/j.jacc.2017.06.061.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28944240\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome<\/b><\/a><br \/>\nMoosa S, Altm\u00fcller J, Lyngbye T, Christensen R, Li Y, N\u00fcrnberg P, Yigit G, Vogel I, Wollnik B.<br \/>\n<em>Mol Genet Genomic Med <\/em> 2017; Jul 28;5(5):580-584. doi: 10.1002\/mgg3.287. eCollection 2017 Sep.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28472301\" target=\"_blank\" rel=\"noopener noreferrer\"><b>New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy<\/b><\/a><br \/>\nPinggera A, Mackenroth L, Rump A, Schallner J, Beleggia F, Wollnik B, Striessnig J.<br \/>\n<em>Hum Mol Genet<\/em> 2017 May 4. doi: 10.1093\/hmg\/ddx175. [Epub ahead of print]\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28454199\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Genetische Diagnostik bei Kardiomyopathien<\/b><\/a><br \/>\nCzepluch F, Wollnik B, Hasenfu\u00df G.<br \/>\n<em>Dtsch Med Wochenschr<\/em> 2017 May;142(9):657-664. doi: 10.1055\/s-0042-112183.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28447407\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Wiedemann-Rautenstrauch syndrome: A phenotype analysis<\/b><\/a><br \/>\nPaolacci S, Bertola D, Franco J, Mohammed S, Tartaglia M, Wollnik B, Hennekam RC.<br \/>\n<em>Am J Med Genet A<\/em> 2017 Apr 26. doi: 10.1002\/ajmg.a.38246. [Epub ahead of print]\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28120103\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes<\/b><\/a><br \/>\nParenti I, Teresa-Rodrigo ME, Pozojevic J, Ruiz Gil S, Bader I, Braunholz D, Bramswig NC, Gervasini C, Larizza L, Pfeiffer L, Ozkinay F, Ramos F, Reiz B, Rittinger O, Strom TM, Watrin E, Wendt K, Wieczorek D, Wollnik B, Baquero-Montoya C, Pi\u00e9 J, Deardorff MA, Gillessen-Kaesbach G, Kaiser FJ.<br \/>\n<em>Hum Genet<\/em> 2017 Mar;136(3):307-320. doi: 10.1007\/s00439-017-1758-y.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28393272\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability<\/b><\/a><br \/>\nBramswig NC, L\u00fcdecke HJ, Hamdan FF, Altm\u00fcller J, Beleggia F, Elcioglu NH, Freyer C, Gerkes EH, Demirkol YK, Knupp KG, Kuechler A, Li Y, Lowenstein DH, Michaud JL, Park K, Stegmann AP, Veenstra-Knol HE, Wieland T, Wollnik B, Engels H, Strom TM, Kleefstra T, Wieczorek D.<br \/>\n<em>Hum Genet<\/em> 2017 Apr 9. doi: 10.1007\/s00439-017-1795-6. [Epub ahead of print]\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28328135\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2<\/b><\/a><br \/>\nMoosa S, Haagerup A, Gregersen PA, Petersen KK, Altm\u00fcller J, Thiele H, N\u00fcrnberg P, Cho TJ, Kim OH, Nishimura G, Wollnik B, Vogel I.<br \/>\n<em>Am J Med Genet Part A <\/em> 2017, 173A:1102\u2013110, doi: 10.1002\/ajmg.a.38116<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28369852\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum<\/b><\/a><br \/>\nMoosa S, Loeys B, Altm\u00fcller J, Mortier G, N\u00fcrnberg P, Li Y, Wollnik B, Vogel I.<br \/>\n<em>Clin Genet<\/em> 2017 Mar 30, doi: 10.1111\/cge.12990. [Epub ahead of print]\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28191891\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism<\/b><\/a><br \/>\nReynolds JJ, Bicknell LS, Carroll P, Higgs MR, Shaheen R, Murray JE, Papadopoulos DK, Leitch A, Murina O, Tarnauskait\u0117 \u017d, Wessel SR, Zlatanou A, Vernet A, von Kriegsheim A, Mottram RM, Logan CV, Bye H, Li Y, Brean A, Maddirevula S, Challis RC, Skouloudaki K, Almoisheer A, Alsaif HS, Amar A, Prescott NJ, Bober MB, Duker A, Faqeih E, Seidahmed MZ, Al Tala S, Alswaid A, Ahmed S, Al-Aama JY, Altm\u00fcller J, Al Balwi M, Brady AF, Chessa L, Cox H, Fischetto R, Heller R, Henderson BD, Hobson E, N\u00fcrnberg P, Percin EF, Peron A, Spaccini L, Quigley AJ, Thakur S, Wise CA, Yoon G, Alnemer M, Tomancak P, Yigit G, Taylor AM, Reijns MA, Simpson MA, Cortez D, Alkuraya FS, Mathew CG, Jackson AP, Stewart GS.<br \/>\n<em>Nat Genet<\/em> 2017 Feb 13. doi: 10.1038\/ng.3790. [Epub ahead of print]\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28067911\" target=\"_blank\" rel=\"noopener noreferrer\"><b>De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development<\/b><\/a><br \/>\nGordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura KI, Oufadem M, Beck TJ, McGowan R, Magee AC, Altm\u00fcller J, Dion C, Thiele H, Gurzau AD, N\u00fcrnberg P, Meschede D, M\u00fchlbauer W, Okamoto N, Varghese V, Irving R, Sigaudy S, Williams D, Ahmed SF, Bonnard C, Kong MK, Ratbi I, Fejjal N, Fikri M, Elalaoui SC, Reigstad H, Bole-Feysot C, Nitschk\u00e9 P, Ragge N, L\u00e9vy N, Tun\u00e7bilek G, Teo AS, Cunningham ML, Sefiani A, Kayserili H, Murphy JM, Chatdokmaiprai C, Hillmer AM, Wattanasirichaigoon D, Lyonnet S, Magdinier F, Javed A, Blewitt ME, Amiel J, Wollnik B, Reversade B.<br \/>\n<em>Nat Genet<\/em> 2017 49(2):249-255. doi: 10.1038\/ng.3765. Epub 2017 Jan 9.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27753196\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G&gt;A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism<\/b><\/a><br \/>\nMoosa S, B\u00f6hrer-Rabel H, Altm\u00fcller J, Beleggia F, N\u00fcrnberg P, Li Y, Yigit G, Wollnik B.<br \/>\n<em>Am J Med Genet A<\/em> 2017 Jan;173(1):264-267. doi: 10.1002\/ajmg.a.37999. Epub 2016 Oct 18.<\/p>\n<p><b>A thanatophoric dysplasia type I case with a FGFR3 p.R248C mutation and survival beyond the neonatal period<\/b><br \/>\nSahin S, Ograg H, Atas Aslan E, Akcan AB, Kaynak Turkmen M, Moosa S and Elcioglu NH<br \/>\n<i>Genetic Counseling<\/i> 2016, 27(4):513-515.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27530281\" target=\"_blank\" rel=\"noopener noreferrer\"><b>An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity<\/b><\/a><br \/>\nB\u00f6gershausen N, Altunoglu U, Beleggia F, Yigit G, Kayserili H, N\u00fcrnberg P, Li Y, Altm\u00fcller J, Wollnik B<br \/>\n<em>Am J Med Genet A<\/em> 2016 Aug 17. doi: 10.1002\/ajmg.a.37931. [Epub ahead of print]\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27021259\" target=\"_blank\" rel=\"noopener noreferrer\"><b>A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product<\/b><\/a><br \/>\nAltm\u00fcller J, Motameny S, Becker C, Thiele H, Chatterjee S, Wollnik B, N\u00fcrnberg P.<br \/>\n<em>Biol Chem<\/em> 2016, 397(8):791-801. doi: 10.1515\/hsz-2015-0300. [Epub ahead of print]\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27302555\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Mutation Update for Kabuki syndrome genes KMT2D and KDM6A and further delineation of X-linked Kabuki syndrome subtype 2<br \/>\n<\/b><\/a>B\u00f6gershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, Simsek-Kiper P\u00d6, Barat-Houari M, Elcioglu NH, Wieczorek D, Tinschert S, Sarrabay G, Strom TM, Fabre A, Baynam G, Sanchez E, N\u00fcrnberg G, Altunoglu U, Capri Y, Isidor B, Lacombe D, Corsini C, Cormier-Daire V, Sanlaville D, Giuliano F, Sang KL, Kayirangwa H, N\u00fcrnberg P, Meitinger T, Boduroglu K, Zoll B, Lyonnet S, Tzschach A, Verloes A, Donato ND, Touitou I, Netzer C, Li Y, Genevi\u00e8ve D, Yigit G, Wollnik B.<br \/>\n<em>Hum Mutat<\/em> 2016. doi: 10.1002\/humu.23026. [Epub ahead of print]\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/26970110\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis<\/b><\/a><br \/>\nBoppudi S, B\u00f6gershausen N, Hove HB, Ferda Percin E, Aslan D, Dvorsky R, Kayhan G, Li Y, Cursiefen C, Tantcheva-Poor I, Toft PB, Bartsch O, Li\u00dfewski C, Jakubiczka S, Wollnik B, Ahmadian MR, Heindl LM, Zenker M..<br \/>\n<em>Clin Genet <\/em>2016. doi: 10.1111\/cge.12775. [Epub ahead of print].<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27240540\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome<\/b><\/a><br \/>\nDi Donato N, Kuechler A, Velgano S, Heinritz W, Bodurtha J, Merchant SR, Breningstall G, Ladda R, Sell S, Altm\u00fcller J, B\u00f6gershausen N, Timms AE, Hackmann K, Schrock E, Collins S, Olds C, Rump A, Dobyns WB.<br \/>\n<em>Am J Med Genet A <\/em>2016. doi: 10.1002\/ajmg.a.37771. [Epub ahead of print].<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/26595769\" target=\"_blank\" rel=\"noopener noreferrer\"><b>TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism<\/b><\/a><br \/>\nHarley ME, Murina O, Leitch A, Higgs MR, Bicknell LS, Yigit G, Blackford AN, Zlatanou A, Mackenzie KJ, Reddy K, Halachev M, McGlasson S, Reijns MA, Fluteau A, Martin CA, Sabbioneda S, Elcioglu NH, Altmuller J, Thiele H, Greenhalgh L, Chessa L, Maghnie M, Salim M, Bober MB, Nurnberg P, Jackson SP, Hurles ME, Wollnik B, Stewart GS, and Jackson AP.<br \/>\n<em>Nat Genet <\/em>2016, 48(1):36-43. doi: 10.1038\/ng.3451 [Epub 2015 Nov 23].<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27240166\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a Na,K-ATPase beta subunit<\/b><\/a><br \/>\nHatzold J, Beleggia F, Herzig H, Altm\u00fcller J, N\u00fcrnberg P, Bloch W, Wollnik B, Hammerschmidt M.<br \/>\n<em>eLife<\/em> 2016. doi: 10.7554\/eLife.14277.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27120771\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Polyhydramnios, transient antenatal Bartter&#8217;s Syndrome, and MAGED2 mutations<\/b><\/a><br \/>\nLaghmani K, Beck BB, Yang SS, Seaayfan E, Wenzel A, Reusch B, Vitzthum H, Priem D, Demaretz S, Bergmann K, Duin LK, G\u00f6bel H, Mache C, Thiele H, Bartram MP, Dombret C, Altm\u00fcller J, N\u00fcrnberg P, Benzing T, Levtchenko E, Seyberth HW, Klaus G, Yigit G, Lin SH, Timmer A, de Koning TJ, Scherjon SA, Schlingmann KP, Bertrand MJ, Rinschen MM, de Backer O, Konrad M, K\u00f6mhoff M.<br \/>\n<em>N Engl J Med<\/em> 2016, 374(19):1853-63. doi: 10.1056\/NEJMoa1507629.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/26686047\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Altered FGF signalling in congenital craniofacial and skeletal disorders<\/b><\/a><br \/>\nMoosa S, Wollnik B.<br \/>\n<em>Semin Cell Dev Biol <\/em>2016. 53:115-25. doi: 10.1016\/j.semcdb.2015.12.005. Epub 2015 Dec 11. Review.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27354339\" target=\"_blank\" rel=\"noopener noreferrer\"><b>A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival<\/b><\/a><br \/>\nMoosa S, Fano V, Obregon MG, Altm\u00fcller J, Thiele H, N\u00fcrnberg P, Nishimura G, Wollnik B.<br \/>\n<em>Am J Med Genet A <\/em>2016. doi: 10.1002\/ajmg.a.37823. [Epub ahead of print]\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/26792575\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum<\/b><\/a><br \/>\nMoosa S, Obregon MG, Altm\u00fcller J, Thiele H, N\u00fcrnberg P, Fano V, Wollnik B.<br \/>\n<em>Am J Med Genet A <\/em>2016, 170(5):1295-301. doi: 10.1002\/ajmg.a.37570. [Epub ahead of print]<em><br \/>\n<\/em><\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/26640080\" target=\"_blank\" rel=\"noopener noreferrer\"><b>A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation<\/b><\/a><br \/>\nYigit G, Wieczorek D, B\u00f6gershausen N, Beleggia F, M\u00f6ller-Hartmann C, Altm\u00fcller J, Thiele H, N\u00fcrnberg P, and Wollnik B.<br \/>\n<em>Am J Med Genet A<\/em> 2016, 170(3):728-33. doi: 10.1002\/ajmg.a.37484.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/25561690\" target=\"_blank\" rel=\"noopener noreferrer\"><b>CRIM1 haploinsufficiency causes defects in eye development in human and mouse<\/b><\/a><br \/>\nBeleggia F, Li Y, Fan J, Elcioglu NH, Toker E, Wieland T, Maumenee IH, Akarsu NA, Meitinger T, Strom TM, Lang R, Wollnik B.<br \/>\n<em>Hum Mol Genet<\/em> 2015, 24(8):2267-73. doi: 10.1093\/hmg\/ddu744.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/26280580\" target=\"_blank\" rel=\"noopener noreferrer\"><b>RAP1-mediated MEK\/ERK pathway defects in Kabuki syndrome<\/b><\/a><br \/>\nB\u00f6gershausen N, Tsai IC, Pohl E, Kiper P\u00d6, Beleggia F, Percin EF, Keupp K, Matchan A, Milz E, Alanay Y, Kayserili H, Liu Y, Banka S, Kranz A, Zenker M, Wieczorek D, Elcioglu N, Prontera P, Lyonnet S, Meitinger T, Stewart AF, Donnai D, Strom TM, Boduroglu K, Yigit G, Li Y, Katsanis N, Wollnik B.<br \/>\n<em>J Clin Invest <\/em>2015, 125(9):3585-99. doi: 10.1172\/JCI80102.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/25724810\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes<\/b><\/a><br \/>\nBramswig NC, L\u00fcdecke HJ, Alanay Y, Albrecht B, Barthelmie A, Boduroglu K, Braunholz D, Caliebe A, Chrzanowska KH, Czeschik JC, Endele S, Graf E, Guill\u00e9n-Navarro E, Kiper P\u00d6, L\u00f3pez-Gonz\u00e1lez V, Parenti I, Pozojevic J, Utine GE, Wieland T, Kaiser FJ, Wollnik B, Strom TM, Wieczorek D.<br \/>\n<em>Hum Genet <\/em>2015, 134(6):553-68. doi: 10.1007\/s00439-015-1535-8.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/25683121\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta<\/b><\/a><br \/>\nGarbes L, Kim K, Rie\u00df A, Hoyer-Kuhn H, Beleggia F, Bevot A, Kim MJ, Huh YH, Kweon HS, Savarirayan R, Amor D, Kakadia PM, Lindig T, Kagan KO, Becker J, Boyadjiev SA, Wollnik B, Semler O, Bohlander SK, Kim J, Netzer C.<br \/>\n<em>Am J Hum Genet <\/em>2015, 96(3):432-9. doi: 10.1016\/j.ajhg.2015.01.002.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/25735804\" target=\"_blank\" rel=\"noopener noreferrer\"><b>A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I<\/b><\/a><br \/>\nKilic E, Yigit G, Utine GE, Wollnik B, Mihci E, Nur BG, Boduroglu K.<br \/>\n<em>Am J Med Genet A <\/em>2015, 167A(4):919-21. doi: 10.1002\/ajmg.a.36955.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/26467156\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta<\/b><\/a><br \/>\nMoosa S, Chung BH, Tung JY, Altm\u00fcller J, Thiele H, N\u00fcrnberg P, Netzer C, Nishimura G, Wollnik B.<br \/>\n<em>Clin Genet <\/em>2015. doi: 10.1111\/cge.12678. [Epub ahead of print].<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/25839420\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability<\/b><\/a><br \/>\nRosin N, Elcioglu NH, Beleggia F, Isg\u00fcven P, Altm\u00fcller J, Thiele H, Steindl K, Joset P, Rauch A, N\u00fcrnberg P, Wollnik B, Yigit G.<br \/>\n<em>Hum Mol Genet <\/em>2015, 24(13):3708-17. doi: 10.1093\/hmg\/ddv115.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/26436113\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Mutations in CDK5RAP2 cause Seckel syndrome<\/b><\/a><br \/>\nYigit G, Brown KE, Kayserili H, Pohl E, Caliebe A, Zahnleiter D, Rosser E, B\u00f6gershausen N, Uyguner ZO, Altunoglu U, N\u00fcrnberg G, N\u00fcrnberg P, Rauch A, Li Y, Thiel C and Wollnik B.<br \/>\n<em>Mol Genet Genomic Med <\/em>2015, 3(4):1-14. doi: 10.1002\/mgg3.158.<\/p>\n<p><b>Molekulare Grundlagen der autosomal-rezessiven prim\u00e4ren Mikrozephalie<\/b><br \/>\nYigit G, Rosin N, Wollnik B.<br \/>\n<em>Medgen <\/em>2015, 27:343-350. doi: 10.1007\/s11825-015-0068-9.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/24293101\" target=\"_blank\" rel=\"noopener noreferrer\"><b>A nonclassical IFITM5 mutation located in the coding region causes severe osteogenesis imperfecta with prenatal onset<\/b><\/a><br \/>\nHoyer-Kuhn H, Semler O, Garbes L, Zimmermann K, Becker J, Wollnik B, Schoenau E, Netzer C.<br \/>\n<em>J Bone Miner Res <\/em>2014, 29(6):1387-91. doi: 10.1002\/jbmr.2156.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/25439729\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome<\/b><\/a><br \/>\nHussain MS, Battaglia A, Szczepanski S, Kaygusuz E, Toliat MR, Sakakibara S, Altm\u00fcller J, Thiele H, N\u00fcrnberg G, Moosa S, Yigit G, Beleggia F, Tinschert S, Clayton-Smith J, Vasudevan P, Urquhart JE, Donnai D, Fryer A, Percin F, Brancati F, Dobbie A, Smigiel R, Gillessen-Kaesbach G, Wollnik B, Noegel AA, Newman WG, N\u00fcrnberg P.<br \/>\n<em>Am J Hum Genet <\/em>2014, 95(5):622-32. doi: 10.1016\/j.ajhg.2014.10.008.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/25168959\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A<\/b><\/a><br \/>\nKosho T, Okamoto N; Coffin-Siris Syndrome International Collaborators.<br \/>\n<em>Am J Med Genet C Semin Med Genet <\/em>2014, 166C(3):262-75. doi: 10.1002\/ajmg.c.31407.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/24123394\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Extreme growth failure is a common presentation of ligase IV deficiency<\/b><\/a><br \/>\nMurray JE, Bicknell LS, Yigit G, Duker AL, van Kogelenberg M, Haghayegh S, Wieczorek D, Kayserili H, Albert MH, Wise CA, Brandon J, Kleefstra T, Warris A, van der Flier M, Bamforth JS, Doonanco K, Ad\u00e8s L, Ma A, Field M, Johnson D, Shackley F, Firth H, Woods CG, N\u00fcrnberg P, Gatti RA, Hurles M, Bober MB, Wollnik B, Jackson AP.<br \/>\n<em>Hum Mutat <\/em>2014, 35(1):76-85.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/24705355\" target=\"_blank\" rel=\"noopener noreferrer\"><b>CHARGE and Kabuki syndromes: a phenotypic and molecular link<\/b><\/a><br \/>\nSchulz Y, Freese L, M\u00e4nz J, Zoll B, V\u00f6lter C, Brockmann K, B\u00f6gershausen N, Becker J, Wollnik B, Pauli S.<br \/>\n<em>Hum Mol Genet <\/em>2014, 23(16):4396-405. doi: 10.1093\/hmg\/ddu156.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23130995\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyl-transferases<\/b><\/a><br \/>\nB\u00f6gershausen N, Bruford E, Wollnik B.<br \/>\n<em>Clin Genet <\/em>2013, 83:212-214.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23414083\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Response to Diaz<\/b><\/a><br \/>\nB\u00f6gershausen N, Bruford E, Wollnik B.<br \/>\n<em>Clin Genet <\/em>2013, 83: 296.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23830518\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability<\/b><\/a><br \/>\nB\u00f6gershausen N, Shahrzad N, Chong JX, von Kleist-Retzow JC, Stanga D, Li Y, Bernier FP, Loucks CM, Wirth R, Puffenberger EG, Hegele RA, Schreml J, Lapointe G, Keupp K, Brett CL, Anderson R, Hahn A, Innes AM, Suchowersky O, Mets MB, N\u00fcrnberg G, McLeod DR, Thiele H, Waggoner D, Altm\u00fcller J, Boycott KM, Schoser B, N\u00fcrnberg P, Ober C, Heller R, Parboosingh JS, Wollnik B, Sacher M, Lamont RE.<br \/>\n<em>Am J Hum Genet <\/em>2013, 93:181-190.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23131014\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Unmasking Kabuki syndrome<\/b><\/a><br \/>\nB\u00f6gershausen N, Wollnik B.<br \/>\n<em>Clin Genet <\/em>2013, 83:201-211.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23568615\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome<\/b><\/a><br \/>\nCzeschik JC, Voigt C, Alanay Y, Albrecht B, Avci S, Fitzpatrick D, Goudie DR, Hehr U, Hoogeboom AJ, Kayserili H, Simsek-Kiper PO, Klein-Hitpass L, Kuechler A, L\u00f3pez-Gonz\u00e1lez V, Martin M, Rahmann S, Schweiger B, Splitt M, Wollnik B, L\u00fcdecke HJ, Zeschnigk M, Wieczorek D.<br \/>\n<em>Hum Genet <\/em>2013, 132:885-898.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/24035636\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa<\/b><\/a><br \/>\nDimopoulou A, Fischer B, Gardeitchik T, Schr\u00f6ter P, Kayserili H, Schlack C, Li Y, Brum JM, Barisic I, Castori M, Spaich C, Fletcher E, Mahayri Z, Bhat M, Girisha KM, Lachlan K, Johnson D, Phadke S, Gupta N, Simandlova M, Kabra M, David A, Nijtmans L, Chitayat D, Tuysuz B, Brancati F, Mundlos S, Van Maldergem L, Morava E, Wollnik B, Kornak U.<br \/>\n<em>Mol Genet Metab <\/em>2013, 110(3):352-61.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/24265693\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies<\/b><\/a><br \/>\nEisenberger T, Neuhaus C, Khan AO, Decker C, Preising MN, Friedburg C, Bieg A, Gliem M, Charbel Issa P, Holz FG, Baig SM, Hellenbroich Y, Galvez A, Platzer K, Wollnik B, Laddach N, Ghaffari SR, Rafati M, Botzenhart E, Tinschert S, B\u00f6rger D, Bohring A, Schreml J, K\u00f6rtge-Jung S, Schell-Apacik C, Bakur K, Al-Aama JY, Neuhann T, Herkenrath P, N\u00fcrnberg G, N\u00fcrnberg P, Davis JS, Gal A, Bergmann C, Lorenz B, Bolz HJ.<br \/>\n<em>PLoS One<\/em> 2013, 8(11):e78496.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23918663\" target=\"_blank\" rel=\"noopener noreferrer\"><b>CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly<\/b><\/a><br \/>\nHussain MS, Baig SM, Neumann S, Peche VS, Szczepanski S, N\u00fcrnberg G, Tariq M, Jameel M, Khan TN, Fatima A, Malik NA, Ahmad I, Altm\u00fcller J, Frommolt P, Thiele H, H\u00f6hne W, Yigit G, Wollnik B, Neubauer BA, N\u00fcrnberg P, Noegel AA.<br \/>\n<em>Hum Mol Genet <\/em>2013, 22(25):5199-214.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23636941\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Severe Cenani-Lenz syndrome caused by loss of LRP4 function<\/b><\/a><br \/>\nKariminejad A, Stollfu\u00df B, Li Y, B\u00f6gershausen N, Boss K, Hennekam RC, Wollnik B.<br \/>\n<em>Am J Med Genet A <\/em>2013, 161:1475-1479.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23635807\" target=\"_blank\" rel=\"noopener noreferrer\"><b>A novel MYO6 splice site mutation causes autosomal dominant sensorineural hearing loss type DFNA22 with a favourable outcome after cochlear implantation<\/b><\/a><br \/>\nVolk AE, Lang-Roth R, Yigit G, Borck G, Nuernberg G, Rosenkranz S, Nuernberg P, Kubisch C, Beutner D.<br \/>\n<em>Audiol Neurootol<\/em> 2013, 18(3):192-9. doi: 10.1159\/000350246.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23499309\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Mutations in WNT1 cause different forms of bone fragility<\/b><\/a><br \/>\nKeupp K, Beleggia F, Kayserili H, Barnes AM, Steiner M, Semler O, Fischer B, Yigit G, Janda CY, Becker J, Breer S, Altunoglu U, Gr\u00fcnhagen J, Krawitz P, Hecht J, Schinke T, Makareeva E, Lausch E, Cankaya T, Caparros-Martin JA, Lapunzina P, Temtamy S, Aglan M, Zabel B, Eysel P, Koerber F, Leikin S, Garcia KC, Netzer C, Sch\u00f6nau E, Ruiz-Perez VL, Mundlos S, Amling M, Kornak U, Marini J, Wollnik B.<br \/>\n<em>Am J Hum Genet <\/em>2013, 92:565-574.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/24498618\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis<\/b><\/a><br \/>\nKeupp K, Li Y, Vargel I, Hoischen A, Richardson R, Neveling K, Alanay Y, Uz E, Elcio\u011flu N, Rachwalski M, Kamaci S, Tun\u00e7bilek G, Akin B, Gr\u00f6tzinger J, Konas E, Mavili E, M\u00fcller-Newen G, Collmann H, Roscioli T, Buckley MF, Yigit G, Gilissen C, Kress W, Veltman J, Hammerschmidt M, Akarsu NA, Wollnik B.<br \/>\n<em>Mol Genet Genomic Med<\/em> 2013, 1(4):223-37. doi: 10.1002\/mgg3.28.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23851939\" target=\"_blank\" rel=\"noopener noreferrer\"><b>A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome<\/b><\/a><br \/>\nPohl E, Aykut A, Beleggia F, Karaca E, Durmaz B, Keupp K, Arslan E, Palamar Onay M, Yigit G, Ozkinay F, Wollnik B.<br \/>\n<em>Hum Genet <\/em>2013, 132:1311-1320.<\/p>\n<p><b>Klinik und Genetik syndromaler und nichtsyndromaler Kraniosynostosen<\/b><br \/>\nRachwalski M, Wollnik B, Kress W.<br \/>\n<em>Medgen <\/em>2013, 25:373-387. doi: 10:1007\/s11825-013-0412-x.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23527311\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Activating somatic FGFR2 mutations in breast cancer<\/b><\/a><br \/>\nReintjes N, Li Y, Becker A, Rohmann E, Schmutzler R, Wollnik B.<br \/>\n<em>PLoS One <\/em>2013, 8(3):e60264.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23556151\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Coffin-Siris syndrome<\/b><\/a><br \/>\nSchrier Vergano S, Santen G, Wieczorek D, Wollnik B, Matsumoto N, and Deardorff MA.<br \/>\n<em>Gene Reviews 2013, Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews\u2122 [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.<\/em><\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23906836\" target=\"_blank\" rel=\"noopener noreferrer\"><b>A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling<\/b><\/a><br \/>\nWieczorek D, B\u00f6gershausen N, Beleggia F, Steiner-Haldenst\u00e4tt S, Pohl E, Li Y, Milz E, Martin M, Thiele H, Altm\u00fcller J, Alanay Y, Kayserili H, Klein-Hitpass L, B\u00f6hringer S, Wollstein A, Albrecht B, Boduroglu K, Caliebe A, Chrzanowska K, Cogulu O, Cristofoli F, Czeschik JC, Devriendt K, Dotti MT, Elcioglu N, Gener B, Goecke TO, Krajewska-Walasek M, Guill\u00e9n-Navarro E, Hayek J, Houge G, Kilic E, Simsek-Kiper P\u00d6, L\u00f3pez-Gonz\u00e1lez V, Kuechler A, Lyonnet S, Mari F, Marozza A, Mathieu Dramard M, Mikat B, Morin G, Morice-Picard F, Ozkinay F, Rauch A, Renieri A, Tinschert S, Utine GE, Vilain C, Vivarelli R, Zweier C, N\u00fcrnberg P, Rahmann S, Vermeesch J, L\u00fcdecke HJ, Zeschnigk M, Wollnik B.<br \/>\n<em>Hum Mol Genet <\/em>2013, 22(25):5121-35.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/24092917\" target=\"_blank\" rel=\"noopener noreferrer\"><b>A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype<\/b><\/a><br \/>\nZweier C, Kraus C, Brueton L, Cole T, Degenhardt F, Engels H, Gillessen-Kaesbach G, Graul-Neumann L, Horn D, Hoyer J, Just W, Rauch A, Reis A, Wollnik B, Zeschnigk M, L\u00fcdecke HJ, Wieczorek D.<br \/>\n<em>J Med Genet <\/em>2013, 50(12):838-47.0(12):838-47.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/22482805\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Attenuated BMP1 function compromises osteogenesis leading to bone fragility in human and zebrafish<\/b><\/a><br \/>\nAsharani PV, Keupp K, Li Yun, Wang WS, Semler O, Thiele H, Becker J, Frommolt P, Sonntag C, Greenspan DS, Sch\u00f6nau E, N\u00fcrnberg P, Hammerschmidt M, Wollnik B*, Carney TJ*.<br \/>\n<em>Am J Hum Genet <\/em>2012, 90:661-674.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/22876588\" target=\"_blank\" rel=\"noopener noreferrer\"><b>A new clinical presentation associated with pontine clefting, hyperpigmentation and short stature in addition to craniofacial, cardiac and developmental anomalies<\/b><\/a><br \/>\nCogulu O, Durmaz B, Wollnik B, Durmaz A, Darcan S, Ozkinay F.<br \/>\n<em>Genet Couns <\/em>2012, 23(2):281-7.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/22863195\" target=\"_blank\" rel=\"noopener noreferrer\"><b>A mutation in the 5\u00b4-untranslated region of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus<\/b><\/a><br \/>\nSemler O Garbes L, Keupp K, Swan D, Zimmermann K, Becker J, Iden S, Wirth B, Eysel P, Koerber F, Schoenau E, Bohlander S, Wollnik B, Netzer C.<br \/>\n<em>Am J Hum Genet <\/em>2012, 91:349-357.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23084290\" target=\"_blank\" rel=\"noopener noreferrer\"><b>A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss<\/b><\/a><br \/>\nvon Ameln S, Wang G, Boulouiz R, Rutherford MA, Smith GM, Li Y, Pogoda HM, N\u00fcrnberg G, Stiller B, Volk AE, Borck G, Hong JS, Goodyear RJ, Abidi O, N\u00fcrnberg P, Hofmann K, Richardson GP, Hammerschmidt M, Moser T, Wollnik B, Koehler CM, Teitell MA, Barakat A, Kubisch C.<br \/>\n<em>Am J Hum Genet <\/em>2012, 91(5):919-27. doi: 10.1016\/j.ajhg.2012.09.002.<\/p>\n<p><b>Progeroide Erkrankungen und ihre Mechanismen<\/b><br \/>\nWollnik B, Kornak U.<br \/>\n<em>Medgen <\/em>2012, 24:253-256. doi: 10:1007\/s11825-012-0350-z.<\/p>\n<p><b>Molekulare Mechanismen des Seckel-Syndroms<\/b><br \/>\nYigit G, Wollnik B.<br \/>\n<em>Medgen <\/em>2012, 24:284-288. doi: 10:1007\/s11825-012-0359-3.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/22234151\" target=\"_blank\" rel=\"noopener noreferrer\"><b>A large duplication of the IHH locus mimics acrocallosal syndrome<\/b><\/a><br \/>\nYuksel-Apak M, B\u00f6gershausen N, Pawlik B, Li Y, Apak S, Uyguner ZO, N\u00fcrnberg G, Karaman B, G\u00fclg\u00f6ren A, N\u00fcrnberg P, Kayserili H, Wollnik B.<br \/>\n<em>Eur J Hum Genet <\/em>2012, 20:639-644.<\/p>\n<p><b>Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta<\/b><br \/>\nBecker J, Semler O, Gilissen C, Li Y, Bolz HJ, Giunta C, Bergmann C, Rohrbach M, Koerber F, Zimmermann K, de Vries P, Wirth B, Schoenau E, Wollnik B, Veltman JA, Hoischen A, Netzer C.<br \/>\n<em>Am J Hum Genet <\/em>2011, 88:362-71.<\/p>\n<p><b>Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42<\/b><br \/>\nBorck G, Ur Rehman A, Lee K, Pogoda HM, Kakar N, von Ameln S, Grillet N, Hildebrand MS, Ahmed ZM, N\u00fcrnberg G, Ansar M, Basit S, Javed Q, Morell RJ, Nasreen N, Shearer AE, Ahmad A, Kahrizi K, Shaikh RS, Ali RA, Khan SN, Goebel I, Meyer NC, Kimberling WJ, Webster JA, Stephan DA, Schiller MR, Bahlo M, Najmabadi H, Gillespie PG, N\u00fcrnberg P, Wollnik B, Riazuddin S, Smith RJ, Ahmad W, M\u00fcller U, Hammerschmidt M, Friedman TB, Riazuddin S, Leal SM, Ahmad J, Kubisch C.<br \/>\n<em>Am J Hum Genet <\/em>2011, 88(2):127-37.<\/p>\n<p><b>A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome<\/b><br \/>\nBorck G, Wunram H, Steiert A, Volk AE, K\u00f6rber F, Roters S, Herkenrath P, Wollnik B, Morris-Rosendahl DJ, Kubisch C.<br \/>\n<em>Hum Genet <\/em>2011, 129:45-50.<\/p>\n<p><b>Sustained NF-kappaB activity in chronic lymphocytic leukemia is independent of genetic and epigenetic alterations in the TNFAIP3 (A20) locus<\/b><br \/>\nFrenzel LP, Claus R, Plume N, Schwamb J, Konermann C, Pallasch CP, Claasen J, Brinker R, Wollnik B, Plass C, Wendtner CM.<br \/>\n<em>Int J Cancer <\/em>2011, 128:2495-500.<\/p>\n<p><b>CEP152 is a novel genome-maintenance protein and its disruption causes genomic instability in Seckel syndrome<\/b><br \/>\nKalay E, Yigit G, Aslan Y, Brown KE, Li Y, Pohl E, Bicknell L, Kayserili H, T\u00fcys\u00fcz B, N\u00fcrnberg N, Kiess W, Baessmann I, Buruk K, Kul S, Ikbal M, Taylor MS, Aerts J, Scott C, Dollfuss H, Wieczorek D, Brunner HG, Rauch A, N\u00fcrnberg P, Hurles M, Jackson AP, Karag\u00fczel A, Wollnik B.<br \/>\n<em>Nat Genet <\/em>2011, 43:23-26.<\/p>\n<p><b>A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient<\/b><br \/>\nKayserili H, Wollnik B, G\u00fcven G, Emiro\u011flu MU, Ba\u015ferer N, Uyguner ZO.<br \/>\n<em>Am J Med Genet A <\/em>2011, 155A:180-5.<\/p>\n<p><b>Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in localized degradation of retinoic acid<\/b><br \/>\nLaue K, Daniel P, van Haeringen A, Rachwalski M, von Ameln S, Pogoda HM, Morgan T, Gray MJ, Zonderland HM, Breuning MH, Sawyer GM, Sutherland-Smith AJ, Alanay Y, Kubisch C, Bloch W, Wollnik B, Hammerschmidt M, Robertson SP.<br \/>\n<em>Am J Hum Genet <\/em>2011, 89:595-606.<\/p>\n<p><b>A mutation screen in patients with Kabuki syndrome<\/b><br \/>\nLi Y, B\u00f6gershausen N, Alanay Y, Simsek Kiper PO, Plume N, Keupp K, Pohl E, Pawlik B, Rachwalski M, Milz E, Thoenes M, Albrecht B, Prott EC, Lehmk\u00fchler M, Demuth S, Utine GE, Boduroglu K, Frankenbusch K, Borck G, Gillessen-Kaesbach G, Yigit G, Wieczorek D, Wollnik B.<br \/>\n<em>Hum Genet <\/em>2011, 130:715-724.<\/p>\n<p><b>Lrp4 regulates initiation of ureteric budding and is crucial for kidney formation&#8211;a mouse model for Cenani-Lenz syndrome<\/b><br \/>\nKarner CM, Dietrich MF, Johnson EB, Kappesser N, Tennert C, Percin F, Wollnik B, Carroll TJ, and Herz J.<br \/>\n<em>PLoS One <\/em>2010, 5:e10418.<\/p>\n<p><b>Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling<\/b><br \/>\nLi Y, Laue K, Temtamy S, Aglan M, Kotan LD, Yigit G, Canan H, Pawlik B, N\u00fcrnberg G, Wakeling EL, Quarrell OW, Baessmann I, Lanktree MB, Yilmaz M, Hegele RA, Amr K, May KW, N\u00fcrnberg P, Topaloglu AK, Hammerschmidt M, Wollnik B.<br \/>\n<em>Am J Hum Genet <\/em>2010, 87(6):757-67.<\/p>\n<p><b>First independent replication study confirms the strong genetic association of ANXA11 with sarcoidosis<br \/>\n<\/b>Li Y, Pabst S, Kubisch C, Groh\u00e9 C, Wollnik B.<b><br \/>\n<\/b><em>Thorax <\/em>2010, 65:939-940.<\/p>\n<p><b>LRP4 mutations alter Wnt\/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome<\/b><br \/>\nLi Y, Pawlik B, Elcioglu N, Aglan M, Kayserili H, Yigit G, Percin F, Goodman F, Nurnberg G, Cenani A, Urquhart J, Chung BD, Ismail S, Amr K, Aslanger AD, Becker C, Netzer C, Scambler P, Eyaid W, Hamamy H, Clayton-Smith J, Hennekam R, Nurnberg P, Herz J, Temtamy SA, Wollnik B.<br \/>\n<em>Am J Hum Genet <\/em>2010, 86:696-706.<\/p>\n<p><b>Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss<\/b><br \/>\nLi Y, Pohl E, Boulouiz R, Schraders M, Nurnberg G, Charif M, Admiraal RJ, von Ameln S, Baessmann I, Kandil M, Veltman JA, Nurnberg P, Kubisch C, Barakat A, Kremer H, and Wollnik B.<br \/>\n<em>Am J Hum Genet <\/em>2010, 86:479-484.<\/p>\n<p><b>A novel namilial BBS12 mutation associated with a mild phenotype: Implications for clinical and molecular diagnostic strategies<\/b><br \/>\nPawlik B, Mir A, Iqbal H, Li Y, N\u00fcrnberg G, Becker C, Qamar R, N\u00fcrnberg P, Wollnik B.<br \/>\n<em>Mol Syndromol <\/em>2010, 1:27-34.<\/p>\n<p><b>Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia<\/b><br \/>\nUz E, Alanay Y, Aktas D, Vargel I, Gucer S, Tuncbilek G, von Eggeling F, Yilmaz E, Deren O, Posorski N, Ozdag H, Liehr T, Balci S, Alikasifoglu M, Wollnik B, and Akarsu NA.<br \/>\n<em>Am J Hum Genet <\/em>2010, 86:789-796.<\/p>\n<p><b>A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb<\/b><br \/>\nWieczorek D, Pawlik B, Li Y, Akarsu NA, Caliebe A, May KJ, Schweiger B, Vargas FR, Balci S, Gillessen-Kaesbach G, and Wollnik B.<br \/>\n<em>Hum Mutat <\/em>2010, 31:81-89.<\/p>\n<p><b>A common mechanism for microcephaly<\/b><br \/>\nWollnik B.<br \/>\n<em>Nat Genet <\/em>2010, 42: 923-924.<\/p>\n<p><b>CYP21A2 gene mutations in congenital adrenal hyperplasia: Genotype-phenotype correlation in Turkish children<\/b><br \/>\nBa\u015f F, Kayserili H, Darendeliler F, Uyguner O, G\u00fcn\u00f6z H, Y\u00fcksel Apak M, Atalar F, Bundak R, Wilson RC, New MI, Wollnik B, Saka N.<br \/>\n<em>J Clin Res Pediatr Endocrinol <\/em>2009, 1:116-28.<\/p>\n<p><b>A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats<\/b><br \/>\nChung BD, Kayserili H, Ai M, Freudenberg J, Uz\u00fcmc\u00fc A, Uyguner O, Bartels CF, H\u00f6ning S, Ramirez A, Hanisch FG, N\u00fcrnberg G, N\u00fcrnberg P, Warman ML, Wollnik B, Kubisch C, Netzer C.<br \/>\n<em>Hum Mutat <\/em>2009, 30:641-648.<\/p>\n<p><b>Pontocerebellar hypoplasia type III (CLAM): extended phenotype and novel molecular findings<\/b><br \/>\nDurmaz B, Wollnik B, Cogulu O, Li Y, Tekgul H, Hazan F, Ozkinay F.<br \/>\n<em>J Neurol <\/em>2009, 256:416-9.<\/p>\n<p><b>A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D<\/b><br \/>\nEl\u00e7ioglu NH, Pawlik B, Colak B, Beck M, Wollnik B.<br \/>\n<em>Genet Couns <\/em>2009, 20:133-9.<\/p>\n<p><b>ALX4 dysfunction disrupts craniofacial and epidermal development<\/b><br \/>\nKayserili H, Uz E, Niessen C, Vargel I, Alanay Y, Tuncbilek G, Yigit G, Uyguner O, Candan S, Okur H, Kaygin S, Balci S, Mavili E, Alikasifoglu M, Haase I, Wollnik B, Akarsu NA.<br \/>\n<em>Hum Mol Genet <\/em>2009, 18, 4357-4366.<\/p>\n<p><b>Extended genetic analysis of BTNL2 in sarcoidosis<\/b><br \/>\nLi Y, Pabst S, Lokhande S, Groh\u00e9 C, Wollnik B.<br \/>\n<em>Tissue Antigens <\/em>2009, 73:59-61.<\/p>\n<p><b>A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families<\/b><br \/>\nNahum S, Pasternack SM,\u00b7Pforr J, Indelman M, Wollnik B, Bergman R,\u00b7N\u00f6then MM, K\u00f6nig A, Khamaysi Z, Betz RC, Sprecher E.<br \/>\n<em>Arch Dermatol Res <\/em>2009, 301(5):391-3. doi: 10.1007\/s00403-008-0903-9.<\/p>\n<p><b>Mutations in PYCR1 cause cutis laxa with progeroid features<\/b><br \/>\nReversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham P-Y, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O&#8217;Connor BD, Schmidt-von Kegler M, Merriman B, Nelson SF, Masri A, Alkazaleh F, Guerra D, Ferrari P, Nanda A, Rajab A, Markie D, Gray M, Nelson J, Grix A, Sommer A, Savarirayan R, Janecke AR, Steichen E, Sillence D, Hau\u00dfer I, Budde B, N\u00fcrnberg G, N\u00fcrnberg P, Seemann P, Kunkel D, Zambruno G, Dallapiccola B, Schuelke M, Robertson S, Hamamy H, Wollnik B, Van Maldergem L, Mundlos S, Kornak U.<br \/>\n<em>Nat Genet <\/em>2009, 41: 1016-1021.<\/p>\n<p><b>Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling<\/b><br \/>\nValencia M, Lapunzina P, Lim D, Zannolli R, Bartholdi D, Wollnik B, Al-Ajlouni O, Eid SS, Cox H, Buoni S, Hayek J, Martinez-Frias ML, Antonio PA, Temtamy S, Aglan M, Goodship JA, Ruiz-Perez VL.<br \/>\n<em>Hum Mutat <\/em>2009, 30:1667-75.<\/p>\n<p><b>A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family.<\/b><br \/>\nBoulouiz R, Li Y, Soualhine H, Abidi O, Cha\ufb01k A, N\u00fcrnberg G, Becker C, N\u00fcrnberg P, Kubisch C, Wollnik B, Barakat A.<br \/>\n<em>Am J Med Genet Part A <\/em>2008, 146A:3086\u20133089.<\/p>\n<p><b>tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia<\/b><br \/>\nBudde BS, Namavar Y, Barth PG, Poll-The BT, N\u00fcrnberg G, Becker C, van Ruissen F, Weterman MAJ, Fluiter K , te Beek E, Aronica E, van der Knaap MS, H\u00f6hne W, Toliat MR, Crow YJ, Steinlin M, Voit T, Roelens F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, Hammersen G, Willemsen M, Basel-Vanagaite L, Kr\u00e4geloh-Mann I, de Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RCM, Grillo E, Beemer FA, Stoets LM, Wollnik B, N\u00fcrnberg P, Baas F.<br \/>\n<em>Nat Genet <\/em>2008, 40: 1113-1138.<\/p>\n<p><b>Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35<\/b><br \/>\nCollin RW, Kalay E, Tariq M, Peters T, van der Zwaag B, Venselaar H, Oostrik J, Lee K, Ahmed ZM, Caylan R, Li Y, Spierenburg HA, Eyupoglu E, Heister A, Riazuddin S, Bahat E, Ansar M, Arslan S, Wollnik B, Brunner HG, Cremers CW, Karaguzel A, Ahmad W, Cremers FP, Vriend G, Friedman TB, Riazuddin S, Leal SM, Kremer H.<br \/>\n<em>Am J Hum Genet <\/em>2008, 82:125-138.<\/p>\n<p><b>Catecholaminergic polymorphic ventricular tachycardia caused by a novel mutation in the cardiac ryanodine receptor<\/b><br \/>\nHasdemir C, Ayding HH, Sahin S, Wollnik B.<br \/>\n<em>Anadolu Kardiyol Derg <\/em>2008, 8: E30-6.<\/p>\n<p><b>Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7\/11<\/b><br \/>\nHilgert N, Alasti F, Dieltjens N, Pawlik B, Wollnik B, Uyguner O, Delmaghani S, Weil D, Petit C, Danis E, Yang T, Pandelia E, Petersen M, Goossens D, Favero J, Sanati M, Smith R, Van Camp G..<br \/>\n<em>Clin Genet <\/em>2008, 74:223-232.<\/p>\n<p><b>Novel p.R229G missense mutation in the FRMD7 gene causes X-linked idiopathic congenital nystagmus linked to Xq26-q27<\/b><br \/>\nKaplan Y, Vargel I, Kansu T, Akin B, Rohmann E, Kamaci S, Uz E, Ozcelik T, Wollnik B, Akarsu NA.<br \/>\n<em>Br J Ophthalmol <\/em>2008, 92: 135-131.<\/p>\n<p><b>A novel stop mutation truncating critical regions of the cardiac transcription factor NKX2.5 in a large family with autosomal-dominant inherited congenital heart disease<\/b><br \/>\nPabst S, Wollnik B, Rohmann E, Hintz Y, Groh\u00e9 C.<br \/>\n<em>Clin Res Cardiol <\/em>2008, 47:39-42.<\/p>\n<p><b>Age and origin of major Smith-Lemli-Opitz Syndrome (SLOS) mutations in European populations<\/b><br \/>\nWitsch-Baumgartner M, Schwentner I, Gruber M, Benlian P, Bertranpetit J, Bieth E, Chevy F, Clusellas N, Estivill X, Gasparini P, Giros M, Kelley RI, Krajewska-Walasek M, Menzel J, Miettinen TA, Ogorelkova M, Rossi M, Scala I, Schinzel A, Schmidt K, Sch\u00f6nitzer D, Seemanova E, Sperling K, Syrrou M, Talmud P, Wollnik B, Krawczak M, Labuda D, Utermann G.<br \/>\n<em>J Med Genet <\/em>2008, 45:200-209.<\/p>\n<p><b>Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death<\/b><br \/>\nAntzelevitch C, Pollevick GD, Cordeiro JM, Casis O, Sanguinetti MC, Aizawa Y, Guerchicoff A, Pfeiffer R, Oliva A, Wollnik B, Gelber P, Bonaros EP Jr, Burashnikov E, Wu Y, Sargent JD, Schickel S, Oberheiden R, Bhatia A, Hsu LF, Haissaguerre M, Schimpf R, Borggrefe M, Wolpert C.<br \/>\n<em>Circulation <\/em>2007, 115, 442-449.<\/p>\n<p><b>Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C<\/b><br \/>\nBoulouiz R, Li Y, Abidi O, Bolz H, Chafik A, Kubisch C, Roub H, Wollnik B, Barakat A.<br \/>\n<em>Mol Vis <\/em>2007, 13:1862-5.<\/p>\n<p><b>Involvement of DFNB59 mutations in autosomal recessive non-syndromic hearing impairment<\/b><br \/>\nCollin RW, Kalay E, Oostrik J, \u00c7aylan R, Wollnik B, Arslan S, den Hollander A, Birinci Y, Strom TM, Lichtner P, Toraman B, Hoefsloot LH, Cremers CWR, Brunner HG, Cremers FP, Karaguzel A, Kremer H.<br \/>\n<em>Hum Mutat <\/em>2007, 28: 718-723.<\/p>\n<p><b>Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome<\/b><br \/>\nCrisponi L, Crisponi G, Meloni A, Toliat MR, N\u00fcrnberg G, Usala U, Uda M, Masala M, H\u00f6hne W, Becker C, Marongiu M, Chiappe F, Kleta R, Rauch A, Wollnik B, Strasser F, Reese R, Jakobs C, Kurlemann G, Cao A, N\u00fcrnberg P, Rutsch F.<br \/>\n<em>Am J Hum Genet <\/em>2007, 80:971-81.<\/p>\n<p><b>Colobomatous macrophthalmia with microcornea syndrome maps to 2p23-p16 region<\/b><br \/>\nElcioglu NH, Akin B, Toker E, Elcioglu M, Kaya A, Tuncali T, Wollnik B, Hornby S, Akarsu NA.<br \/>\n<em>Am J Med Genet <\/em>2007, 143: 1308-12.<\/p>\n<p><b>MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation<\/b><br \/>\nKalay E, Uzumcu A, Krieger E, \u00c7aylan R, Uyguner O, Ulubil-Emiroglu M, Kayserili H, Hafiz G, Ba\u015ferer N, Heister AJ, Hennies HC, N\u00fcrnberg P, Ba\u015faran A, Brunner HG, Cremers CW, Karag\u00fczel A, Wollnik B, Kremer H.<br \/>\n<em>Am J Med Genet <\/em>2007, 143: 2382-2389.<\/p>\n<p><b>Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation<\/b><br \/>\nLew E, Bae JH, Rohmann E, Wollnik B, Schlessinger J.<br \/>\n<em>Proc Natl Acad Sci U S A. <\/em>2007, 104: 19802-19807.<\/p>\n<p><b>LADD syndrome is caused by reduced activity of the FGF10-FGF receptor 2 signaling pathway<\/b><br \/>\nShams I, Rohmann E, Eswarakumar VP, Lew E, Yuzawa S, Wollnik B, Schlessinger J, Irit L.<br \/>\n<em>Mol Cell Biol <\/em>2007, 27: 6903-6912.<\/p>\n<p><b>A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3<\/b><br \/>\nUyguner O, Kayserili H, Li Y, Karaman B, N\u00fcrnberg G, Hennies HC, Becker C, N\u00fcrnberg P, Basaran S, Y\u00fcksel Apak M, Wollnik B.<br \/>\n<em>Clin Genet <\/em>2007, 71:212-219.<\/p>\n<p><b>Phenotype reveals genotype in a Greek long QT syndrome family<\/b><br \/>\nAnastasakis A, Kotta CM, Kyriakogonas S, Wollnik B, Theopistou A, and Stefanadis C.<br \/>\n<em>Europace <\/em>2006, 8: 241\u2013244. doi: 10.1093\/europace\/eul012.<\/p>\n<p><b>Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss<\/b><br \/>\nKalay E, Li Y, Uzumcu A, Uyguner O, Collin R, Caylan R, Ulubil-Emeroglu M, Kersten F, Hafiz G, van Wijk E, Kayserili H, Rohmann E, Wagenstaller J, Hoefsloot L, Strom T, N\u00fcrnberg G, Baserer N, Hollander A, Cremers F, Cremers C, Becker C, Brunner H, N\u00fcrnberg P, Karaguzel A, Basaran S, Kubisch C, Kremer H, Wollnik B.<br \/>\n<em>Hum Mutat <\/em>2006, 27: 633-639.<\/p>\n<p><b>BTNL2 gene variant and sarcoidosis<\/b><br \/>\nLi Y, Wollnik B, Pabst S, Lennarz M, Rohmann E, Gillissen A, Vetter H, Groh\u00e9 C.<br \/>\n<em>Thorax <\/em>2006, 61:273-274.<\/p>\n<p><b>Mutations in different components of FGF signalling in LADD syndrome<\/b><br \/>\nRohmann E, Brunner HG, Kayserili H, Uyguner O, N\u00fcrnberg G, Lew ED, Dobbie A, Eswarakumar VP, Uzumcu A, Ulubil-Emeroglu M, Leroy JG, Li Y, Becker C, Lehnerdt K, Cremers JWRJ, Yuksel-Apak M, N\u00fcrnberg P, Kubisch C, Schlessinger J, van Bokhoven H, Wollnik B.<br \/>\n<em>Nat Genet <\/em>2006, 38:414-417.<\/p>\n<p><b>The R110C mutation in Notch3 causes variable clinical features in two Turkish families with CADASIL syndrome<\/b><br \/>\nUyguner O, Siva A, Kayserili H, Saip S, Tasyurekli M, Apak MY, Isik N, Yilmaz, Akman-Deniz G, Albayram S, Altintas A, Oz B, Wollnik B.<br \/>\n<em>J Neurol Sci <\/em>2006, 246:123-130.<\/p>\n<p><b>Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome<\/b><br \/>\nUzumcu A, Norgett EE, Dindar A, Uyguner O, Nisli K, Kayserili H, Sahin SE, Dupont E, Severs NJ, Leigh IM, Yuksel-Apak M, Kelsell DP, Wollnik B.<br \/>\n<em>J Med Genet <\/em>2006, 43:e05.<\/p>\n<p><b>A novel homozygous missense mutation in FGF23 causes familial tumoral calcinosis associated with disseminated visceral calcification<\/b><br \/>\nChefetz I, Heller R, Galli-Tsinopoulou A, Richard G, Wollnik B, Indelman M, Koerber F, Topaz O, Bergman R, Sprecher E, Schoenau E.<br \/>\n<em>Hum Genet <\/em>2005, 118: 261-266.<\/p>\n<p><b>A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome<\/b><br \/>\nKalay E, de Brouwer AP, Caylan R, Nabuurs SB, Wollnik B, Karaguzel A, Heister JG, Erdol H, Cremers FP, Cremers CW, Brunner HG, Kremer H.<br \/>\n<em>J Mol Med <\/em>2005, 83: 1025-1032.<\/p>\n<p><b>A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter<\/b><br \/>\nTukel T, Uzumcu A, Gezer A, Kayserili H, Yuksel-Apak M, Uyguner O, Gultekin S, Hennies HC, Nurnberg P, Desnick RJ, and Wollnik B.<br \/>\n<em>J Med Genet <\/em>2005, 42: 408-415.<\/p>\n<p><b>The results of cytogenetic analysis with regard to intracytoplasmic sperm injection in males, females and fetuses<\/b><br \/>\nBasaran S, Engur A, Aytan M, Karaman B, Ghanbari A, Toksoy G, Yuksel A, Cankat D, Kervancioglu E, Wollnik B, Bahceci M, Yuksel-Apak M.<br \/>\n<em>Fetal Diagn Ther <\/em>2004, 19: 313-8.<\/p>\n<p><b>Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7)<\/b><br \/>\nHering R, Strauss KM, Tao X, Bauer A, Woitalla D, Mietz EM, Petrovic S, Bauer P, Schaible W, Muller T, Schols L, Klein C, Berg D, Meyer PT, Schulz JB, Wollnik B, Tong L, Kruger R, Riess O.<br \/>\n<em>Hum Mutat <\/em>2004, 24: 321-9.<\/p>\n<p><b>KCNJ11 polymorphisms and sudden cardiac death in patients with acute myocardial infarction<\/b><br \/>\nJeron A, Hengstenberg C, Holmer S, Wollnik B, Riegger GA, Schunkert H, Erdmann J.<br \/>\n<em>J Mol Cell Cardiol <\/em>2004, 36: 287-93.<\/p>\n<p><b>Family history, clinical features, and molecular characterization of a patient with autosomal recessive non-syndromic hearing loss<\/b><br \/>\nDuzcan F, Wollnik B, Tepeli E, Ardic FN, Uyguner O, Bagci H.<br \/>\n<em>Kulak Burun Bogaz Ihtis Derg <\/em>2003, 11: 85-8.<\/p>\n<p><b>A familial Xp+ chromosome detected during fetal karyotyping, which is associated with short stature in four generations of a Turkish family<\/b><br \/>\nKaraman B, Wollnik B, Ermis H, Y\u00fcksel-Apak M, Basaran S.<br \/>\n<em>Prenat Diagn <\/em>2003, 23: 336-339.<\/p>\n<p><b>Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia<\/b><br \/>\nPaznekas W.A., Boyadjiev S.A., Shapiro R.E., Daniels O.,Wollnik B., Keegan C.E., Innis J.W., Dinulos M.B., Christian C., Hannibal M.C., Wang Jabs E.<br \/>\n<em>Am J Hum Genet <\/em>2003, 72: 408-418.<\/p>\n<p><b>A novel semi-quantitative PCR\/enzyme digestion method for detection of large scale deletions\/conversions of the CYP21 gene and mutation screening in Turkish families with 21-hydroxylase deficiency<\/b><br \/>\nT\u00fckel T, Uyguner O, Wei J Q, Bas F, Song DX, Kayserili H, Saka N, G\u00fcn\u00f6z H, Wilson RC, New MI, Y\u00fcksel-Apak M, Wollnik B.<br \/>\n<em>J Clin Endocrinol Metab <\/em>2003, 88: 5893-7.<\/p>\n<p><b>Frequencies of gap- and tight- junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss<\/b><br \/>\nUyguner O, Emiroglu M, \u00dcz\u00fcmc\u00fc A, Hafiz G, Ghanbari A, Baserer N, Y\u00fcksel-Apak M, Wollnik B.<br \/>\n<em>Clin Genet <\/em>2003, 64: 65-69.<\/p>\n<p><b>Molecular analysis of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58f mutation originated from Central Asia and was spread throughout Europe and Anatolia by human migrations<\/b><br \/>\nUyguner O, Goicoechae de J, Cefle A, Baykal T, Kayserili H, Cefle K, Demirkol M, Y\u00fcksel-Apak M, Rodriguez de C, Wollnik B.<br \/>\n<em>J Inherit Metab Dis <\/em>2003, 26: 17-23.<\/p>\n<p><b>Arrhthmogenic right ventriuclar dysplasia: Clinical findings in families<\/b><br \/>\nWollnik B, Diri T, Uyguner O, Karaarslan E, Ghanbari A, Adalet K, Ertugrul T, Y\u00fcksel Apak M, Dindar A.<br \/>\n<em>T\u00fcrk Kardiyoloji Dernegi Arsivi <\/em>2003, 3: 88-95.<\/p>\n<p><b>Homozygous and heterozygouys inheritance of PAX3 mutations causes different types of Waardenburg Syndrome<\/b><br \/>\nWollnik B, T\u00fckel T, Uyguner O, Ghanbari A, Kayserili H, Emiroglu M, Y\u00fcksel Apak M.<br \/>\n<em>Am J Med Genet <\/em>2003, 122: 42-45.<\/p>\n<p><b>Physical map of the chromosome 6q22 region containing the oculodentodigital dysplasia locus: analysis of thirteen candidate genes and identification of novel ESTs and DNA polymorphisms<\/b><br \/>\nBoyadjiev SA, Chowdry AB, Shapiro RE, Paznekas WA, Wandstrat AE, Choi JW, Kasch L, Zhang G, Wollnik B, Burgess CE, Schalling M, Lovett M, Jabs EW.<br \/>\n<em>Cytogenet Genome Res <\/em>2002, 98: 29-37.<\/p>\n<p><b>Autsomal dominant progressive optic atrophy and sensorineural hearing loss in a Turkish family<\/b><br \/>\nOzden S., Duzcan F., Wollnik B., Sahiner T., Bayramoglu I., Yuksel-Apak M., Bagci H.<br \/>\n<em>Ophthalmic Genet <\/em>2002, 23: 29-36.<\/p>\n<p><b>The antihistamine fexofenadine does not affect IKr currents in a case report of drug-induced cardiac arrhythmia<\/b><br \/>\nScherer CR, Lerche C, Dennis AT, Maier P, Ficker E, Pinto YM, Busch AE, Wollnik B, Steinmeyer K.<br \/>\n<em>British Journal of Pharmacology <\/em>2002, 137: 892-900.<\/p>\n<p><b>CADASIL syndrome in a large Turkish kindred caused by the R90C mutation in the Notch3 receptor<\/b><br \/>\nUtku U., Celik Y., Uyguner O., Y\u00fcksel-Apak M., Wollnik B.<br \/>\n<em>Eur J Neuro <\/em>2002, 9: 23-28.<\/p>\n<p><b>Cx26 geninde 35delG mutasyon analizinin non-sendromik kalitsal sagirlikta tani testi olarak kullanilmasi<\/b><br \/>\nUyguner O, Ulubil-Emiroglu M, Hafiz G, Ghanbari A, Baserer N, Yuksel-Apak M, Wollnik B.<br \/>\n<em>Istanbul Tip Mecmuasi <\/em>2002, 65: 2-5.<\/p>\n<p><b>The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family<\/b><br \/>\nUyguner O., Tukel T., Baykal C., Emiroglu M., Hafiz G., Ghanbari A., Baserer N., Yuksel-Apak M, Wollnik B.<br \/>\n<em>Clin Genet <\/em>2002, 62: 306-9.<\/p>\n<p><b>Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family<\/b><br \/>\nWollnik B, Kayserili H, Uyguner O, Tukel T, Yuksel-Apak M.<br \/>\n<em>Ann Genet <\/em>2002, 98: 29-37.<\/p>\n<p><b>hKChIP is a functional modifier of hKV4.3 potassium channels: Cloning and expression of a short hKChIP2 splice variant<\/b><br \/>\nDecher N, Uyguner O, Scherer C, Karaman B, Y\u00fcksel-Apak M, Busch A, Steinmeyer K, Wollnik B.<br \/>\n<em>Cardiovasc Res <\/em>2001, 52: 255-264.<\/p>\n<p><b>Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy.<\/b><br \/>\nErdmann J, Raible J, Maki-Abadi J, Hummel M, Hammann J, Wollnik B, Frantz E, Fleck E, Hetzer R, Regitz-Zagrosek V.<br \/>\n<em>J Am Coll Cardiol <\/em>2001, 38: 322-330.<\/p>\n<p><b>Campomelic dysplasia without sex reversal in a Turkish patient is due to mutation Ala119Val within the SOX9 gene<\/b><br \/>\nJakubiczka S, Bettecken T, Koch G, T\u00fcys\u00fcz B, Wollnik B, Wieacker P.<br \/>\n<em>Clin Dysmorphol <\/em>2001, 10: 197-201.<\/p>\n<p><b>Establishment of non radioactive molecular diagnosis of fragile X syndrome<\/b><br \/>\nUyguner O, Wollnik B, Kayserili H, Tukel T, Basaran S, Apak MY.<br \/>\n<em>Turk J Med Scien <\/em>2000, 14: 384-389.<\/p>\n<p><b>Activation and inactivation of homomeric KvLQT1 potassium channels<\/b><br \/>\nPusch M, Magrassi M, Wollnik B, Coni F.<br \/>\n<em>Biophys J <\/em>1998, 75: 785-792.<\/p>\n<p><b>Identification of functionally important regions of the muscular chloride channel CLC-1 by analysis of recessive and dominant myotonic mutations<\/b><br \/>\nWollnik B, Kubisch C, Steinmeyer K, Pusch M.<br \/>\n<em>Hum Mol Genet <\/em>1997, 6: 805-811.<\/p>\n<p><b>Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias<\/b><br \/>\nWollnik B, Schroeder B, Kubisch HD, Esperer H, Wieacker P, Jentsch TJ.<br \/>\n<em>Hum Mol Genet 1997, 6: 1923-1929.<\/em><\/p>\n<p><b>Hormonal induction of an immediate-early gene response in myogenic cell lines &#8211; a paradigm for heart growth<\/b><br \/>\nMaass A, Grohe C, Kubisch C, Wollnik B, Vetter H, Neyses L.<br \/>\n<em>Eur Heart J <\/em>1995, 16: 12-14.<\/p>\n<p><b>Clinical and genetical aspects of the long QT syndrome<\/b><br \/>\nWollnik B, Guicheney P.<br \/>\n<em>Herz <\/em>1994, 19: 126-132.<\/p>\n<p><b>Immediate-early gene induction by repetitive mechanical but not electrical activity in adult rat cardiomyocytes<\/b><br \/>\nKubisch C, Wollnik B, Maass A, Meyer R, Vetter H, Neyses L.<br \/>\n<em>FEBS Letters <\/em>1993, 335: 37-40.<\/p>\n<p><b>Hyperosmotic stress induces immediate-early gene expression in ventricular adult cardiomyocytes<\/b><br \/>\nWollnik B, Kubisch C, Maass A, Vetter H, Neyses L.<br \/>\n<em>Biochem Biophys Res Commun <\/em>1993, 194: 642-646.[\/vc_column_text][\/vc_column][\/mk_page_section][mk_page_section section_id=&#8221;2014&#8243; sidebar=&#8221;sidebar-1&#8243;][vc_column][vc_empty_space height=&#8221;100px&#8221;][\/vc_column][\/mk_page_section][mk_page_section][vc_column][vc_empty_space height=&#8221;100&#8243;][\/vc_column][\/mk_page_section]\n<\/div>","protected":false},"excerpt":{"rendered":"<p>[vc_row attached=&#8221;true&#8221; padding=&#8221;2&#8243;][vc_column][vc_empty_space height=&#8221;50&#8243;][vc_column_text align=&#8221;center&#8221;] Wollnik Research Group [\/vc_column_text][vc_empty_space][vc_row_inner][vc_column_inner width=&#8221;1\/3&#8243;][vc_column_text css=&#8221;.vc_custom_1756471579797{margin-bottom: 0px !important;}&#8221;] Halima Alachram Bioinformatics scientist Carolin Argyriou Technical assistant Rozhin Bayati PhD student Nina B\u00f6gershausen MD, PostDoc Karin Bo\u00df Scientific coordinator [\/vc_column_text][\/vc_column_inner][vc_column_inner width=&#8221;1\/3&#8243;][vc_column_text css=&#8221;.vc_custom_1756471555234{margin-bottom: 0px !important;}&#8221;] Alisa Fedorenko PhD student Marianne Gaubert PhD student Yun Li MD, Head of MM Team Christian M\u00fcller [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":7663,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-7782","page","type-page","status-publish","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Wollnik Research Group - Institut f\u00fcr Humangenetik<\/title>\n<meta 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