{"id":11505,"date":"2016-10-24T15:43:48","date_gmt":"2016-10-24T13:43:48","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/ag-pauli\/"},"modified":"2025-12-15T15:30:36","modified_gmt":"2025-12-15T14:30:36","slug":"pauli-research-group","status":"publish","type":"page","link":"https:\/\/www.humangenetik-umg.de\/en\/research\/pauli-research-group\/","title":{"rendered":"Pauli 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; css=&#8221;.vc_custom_1591339623604{margin-bottom: 0px !important;}&#8221;]\n<h1 style=\"text-align: center;\"><span style=\"color: #ff9900;\">Pauli Research Group<br \/>\n<\/span><\/h1>\n[\/vc_column_text][vc_empty_space height=&#8221;50px&#8221;][vc_row_inner][vc_column_inner width=&#8221;1\/3&#8243;][vc_column_text css=&#8221;.vc_custom_1667554808424{margin-bottom: 0px !important;}&#8221;]\n<p style=\"text-align: left;\"><strong>Gina Kastens<br \/>\n<\/strong>PhD student<\/p>\n[\/vc_column_text][\/vc_column_inner][vc_column_inner width=&#8221;1\/3&#8243;][vc_column_text css=&#8221;.vc_custom_1691482875321{margin-bottom: 0px !important;}&#8221;]\n<p style=\"text-align: left;\"><strong>Dr. rer. nat. Michaela Mischak<br \/>\n<\/strong>PostDoc<\/p>\n[\/vc_column_text][\/vc_column_inner][vc_column_inner width=&#8221;1\/3&#8243;][vc_column_text css=&#8221;.vc_custom_1591339819092{margin-bottom: 0px !important;}&#8221;]\n<p style=\"text-align: left;\"><strong>Prof. Dr. med. Silke Pauli<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 css=&#8221;.vc_custom_1591339926226{margin-bottom: 0px !important;}&#8221;]\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_padding_divider size=&#8221;25&#8243;][\/vc_column_inner][\/vc_row_inner][mk_custom_list icon_color=&#8221;#ff9900&#8243; el_class=&#8221;custom-list&#8221;]\n<ul>\n<li style=\"list-style-type: none;\">\n<ul>\n<li>Functional studies elucidating a common pathomechanism of CHARGE syndrome and Kabuki syndrome<\/li>\n<li>Research on the function of class 3 semaphorins in the development and pathogenesis of syndromic disorders<\/li>\n<li>Molecular studies on FBRSL1 and its role in the pathogenesis of a novel syndromic phenotype<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n[\/mk_custom_list][vc_empty_space][\/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 css=&#8221;.vc_custom_1591340035405{margin-bottom: 0px !important;}&#8221;]\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 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_1591340052489{margin-bottom: 0px !important;}&#8221;]\n<h2>Functional studies elucidating a common pathomechanism of CHARGE syndrome and Kabuki syndrome<\/h2>\n[\/vc_column_text][vc_empty_space][vc_row_inner][vc_column_inner][vc_column_text css=&#8221;.vc_custom_1591340080704{margin-bottom: 0px !important;}&#8221;]CHARGE syndrome (OMIM 214800), like Kabuki syndrome (OMIM 147920, 300867), is a clinically heterogeneous and complex dysmorphic syndrome. Mutations in the chromatin remodeler CHD7 are causative of CHARGE syndrome, while pathogenic variants in the chromatin modification proteins KMT2D and KDM6A are identified in Kabuki syndrome patients. Depending on the observed combination of malformations, the two syndromes can show strongly overlapping phenotypes. Especially during infancy and early childhood, when the typical Kabuki facies has not yet fully evolved, it can be difficult to distinguish the two disorders clinically. Their similar phenotypes might be due to the fact that KMT2D, KDM6A and CHD7 all act in the same chromatin modification and remodelling machinery. Our DFG-funded project aims to reveal a common pathogenic mechanism of these two syndromes.[\/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;progerien&#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_1591340159070{margin-bottom: 0px !important;}&#8221;]\n<h2>Research on the function of class 3 semaphorins in the development and pathogenesis of syndromic disorders<\/h2>\n[\/vc_column_text][vc_empty_space][vc_row_inner][vc_column_inner][vc_column_text css=&#8221;.vc_custom_1591340223104{margin-bottom: 0px !important;}&#8221;]Semaphorins are a group of transmembrane or secreted proteins which act, for example, as signaling molecules to guide sprouting axons. Additionally, they play a role in development due to their involvement in the migration of neural crest cells, angiogenesis, and bone formation, and other processes. Based on their domain structure and sequence homologies, semaphorins are grouped into subclasses. Our research group focuses on class 3 semaphorins. Our aim is to explore the function of these proteins in the pathogenesis of syndromic disorders. To answer this question we perform cell culture experiments, use molecular methods, and apply NGS-based approaches.[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][vc_empty_space][\/vc_column][\/mk_page_section][mk_page_section][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_1591340242030{margin-bottom: 0px !important;}&#8221;]\n<h2>Molecular studies on FBRSL1 and its role in the pathogenesis of a novel syndromic disorder<\/h2>\n[\/vc_column_text][vc_empty_space][vc_row_inner][vc_column_inner][vc_column_text css=&#8221;.vc_custom_1591340268041{margin-bottom: 0px !important;}&#8221;]We have recently associated truncating mutations in a specific region of FBRSL1 with a novel syndromic disorder. The clinical features include cleft palate, heart defects, respiratory insufficiency, swallowing difficulty, distinctive skin creases regressing in the first year of life, microcephaly, and severe global developmental delay. In our DFG-funded project, we focus on a deeper characterization of the newly identified malformation syndrome and the identification of the role of FBRSL1 in its pathogenesis.[\/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 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 css=&#8221;.vc_custom_1591340320815{margin-bottom: 0px !important;}&#8221;]\n<h2 style=\"text-align: center;\"><span style=\"color: #ff9900;\">Publications Pauli 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=\"#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-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-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=\"#2021\">2021<\/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\/3&#8243; el_class=&#8221;anker-first&#8221;][\/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; margin_bottom=&#8221;0&#8243; font_family=&#8221;none&#8221; align=&#8221;center&#8221; animation=&#8221;scale-up&#8221;]<a href=\"#2020\">2020 and before<\/a>[\/mk_fancy_title][\/vc_column][vc_column width=&#8221;1\/3&#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;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_1765808959540{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_1765808983480{margin-bottom: 0px !important;}&#8221;]<a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/41283296\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Fbrsl1 is required for cranial neural crest development and reflects a conserved function of the human disease-associated protein<\/b><\/a><br \/>\nGerstner S, Berger-Santangelo H, Kastens G, Scholtes T, W\u00e4schenbach S, Pauli S, Borchers A<br \/>\n<em>Dis Model Mech.<\/em> 2025 Nov 1;18(11):dmm052472. doi: 10.1242\/dmm.052472. Epub 2025 Nov 24.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/40905240\" target=\"_blank\" rel=\"noopener noreferrer\"><b>A Novel \u03b1-Synuclein K58N Missense Variant in a Patient with Parkinson&#8217;s Disease<\/b><\/a><br \/>\nAl-Azzani M, Weber S, Ramalingam N, Ram\u00f3n M, Shvachiy L, Mestre G, Zech M, Sicking K, de Opakua AI, Jayanthi V, Amaral L, Agarwal A, Chandran A, Chaves SR, Winkelmann J, Trenkwalder C, Schwager M, Pauli S, Dettmer U, Fern\u00e1ndez CO, Lautenschl\u00e4ger J, Zweckstetter M, Busnadiego RF, Mollenhauer B, Outeiro TF<br \/>\n<em>Mov Disord.<\/em> 2025 Sep 4. doi: 10.1002\/mds.70030. Epub ahead of print.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/40658195\" target=\"_blank\" rel=\"noopener noreferrer\"><b>FBRSL1 regulates the expression of chromatin regulators BRPF1 and KAT6A<\/b><\/a><br \/>\nKastens G, Berger-Santangelo H, Gerstner S, Ufartes R, Mischak M, Borchers A, Pauli S<br \/>\n<em>Hum Genet.<\/em> 2025 Jul 14. doi: 10.1007\/s00439-025-02760-y. Epub ahead of print.<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;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_1711621144497{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_1711621159266{margin-bottom: 0px !important;}&#8221;]<a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/38501224\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Fbrsl1 is required for heart development in Xenopus laevis and de novo variants in FBRSL1 can cause human heart defects<\/b><\/a><br \/>\nBerger H, Gerstner S, Horstmann MF, Pauli S, Borchers A<br \/>\n<em>Dis Model Mech<\/em> 2024 Mar 19:dmm.050507. doi: 10.1242\/dmm.050507. 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;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_1660548825726{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_1660548847856{margin-bottom: 0px !important;}&#8221;]<a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/35928135\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Evidence of Two Novel LAMA2 Variants in a Patient With Muscular Dystrophy: Facing the Challenges of a Certain Diagnosis<\/b><\/a><br \/>\nMeyer S, Kaulfu\u00df S, Zechel S, Kummer K, Seif Amir Hosseini A, Ernst MS, Schmidt J, Pauli S, Zsch\u00fcntzsch J<br \/>\n<em>Front Neurol.<\/em> 2022 Jul 19;13:893605. doi: 10.3389\/fneur.2022.893605.[\/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_1626180639025{margin-bottom: 0px !important;}&#8221;]\n<h2>2021<\/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_1638199747446{margin-bottom: 0px !important;}&#8221;]<a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/34805182\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Comparing a Novel Malformation Syndrome Caused by Pathogenic Variants in FBRSL1 to AUTS2 Syndrome<\/b><\/a><br \/>\nPauli S, Berger H, Ufartes R, Borchers A<br \/>\n<em>Front Cell Dev Biol<\/em> 2021 Nov 5;9:779009. doi: 10.3389\/fcell.2021.779009<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/34230955\" target=\"_blank\" rel=\"noopener noreferrer\"><b>CHARGE syndrome and related disorders: A mechanistic link<\/b><\/a><br \/>\nUfartes R, Gr\u00fcn R, Salinas G, Sitte M, Kahl F, Wong MTY, van Ravenswaaij-Arts CMA, Pauli S<br \/>\n<em>Hum Mol Genet<\/em> 2021 Jul 6:ddab183. doi: 10.1093\/hmg\/ddab183. Epub ahead of print.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/33351273\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Using Xenopus to analyze neurocristopathies like Kabuki syndrome<\/b><\/a><br \/>\nSchwenty-Lara J, Pauli S, Borchers A<br \/>\n<em>Genesis<\/em> 2021 Feb;59(1-2):e23404. doi: 10.1002\/dvg.23404.[\/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;2020&#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_1765809020838{margin-bottom: 0px !important;}&#8221;]\n<h2>2020 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_column_text el_class=&#8221;padding25lr publikationen&#8221; css=&#8221;.vc_custom_1765809039692{margin-bottom: 0px !important;}&#8221;]<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><\/a><br \/>\nUfartes 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 May 18.<\/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><\/a><br \/>\nNeuhofer 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.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/31192301\" target=\"_blank\" rel=\"noopener noreferrer\"><b>X-linked myotubular myopathy and recurrent spontaneous pneumothorax: A new phenotype? <\/b><\/a><br \/>\nCarstens PO, Schwaibold EMC, Schregel K, Obermaier CD, Wrede A, Zechel S, Pauli S, Schmidt J.<br \/>\n<em>Neurol Genet.<\/em> 2019 5:e327.<\/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> 2019 56:261-264.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/29432577\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Sema3a plays a role in the pathogenesis of CHARGE syndrome<\/b><\/a><br \/>\nUfartes R, Schwenty-Lara J, Freese L, Neuhofer C, M\u00f6ller J, Wehner P, van Ravenswaaij-Arts CMA, Wong MTY, Schanze I, Tzschach A, Bartsch O, Borchers A, Pauli S<br \/>\n<em>Hum Mol Genet. <\/em>2018 27:1343-1352.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/30619508\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22<\/b><\/a><br \/>\nSchnabel F, Smogavec M, Funke R, Pauli S, Burfeind P, Bartels I<br \/>\n<em>Mol Cytogenet <\/em>2018 11:62.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28785732\" target=\"_blank\" rel=\"noopener noreferrer\"><b>Novel fukutin mutations in limb-girdle muscular dystrophy type 2M with childhood onset<\/b><\/a><br \/>\nSmogavec M, Zsch\u00fcntzsch J, Kress W, Mohr J, Hellen P, Zoll B, Pauli S, Schmidt J.<br \/>\n<em>Neurol Genet.<\/em> 2017 Jul 10;3(4):e167.<\/p>\n<p><a style=\"text-decoration: none;\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/29082625\" target=\"_blank\" rel=\"noopener noreferrer\"><b>CHARGEd with neural crest defects<\/b><\/a><br \/>\nPauli S., Bajpai R., Borchers A.<br \/>\n<em>Am J Med Genet Part C. Semin Med Genet. <\/em>2017 175:478-486.<\/p>\n<p><strong>Uniparental Trisomy of a Mutated HRAS Proto-Oncogene in Embryonal Rhabdomyosarcoma of a Patient With Costello Syndrome<\/strong><br \/>\nMenke J, Pauli S, Sigler M, K\u00fchnle I, Shoukier M, Zoll B, Ganster C, Salinas-Riester G, Schaefer IM<br \/>\n<em>J Clin Oncol.<\/em> 2015 3:e62-5, doi: 10.1200\/JCO.2013.49.6539. Epub 2014 Mar 17.<\/p>\n<p><strong>Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes<\/strong><br \/>\nKratz CP, Franke L, Peters H, Kohlschmidt N, Kazmierczak B, Finckh U, Bier A, Eichhorn B, Blank C, Kraus C, Kohlhase J, Pauli S, Wildhardt G, Kutsche K, Auber B, Christmann A, Bachmann N, Mitter D, Cremer FW, Mayer K, Daumer-Haas C, Nevinny-Stickel-Hinzpeter C, Oeffner F, Schl\u00fcter G, Gencik M, \u00dcberlacker B, Lissewski C, Schanze I, Greene MH, Spix C, Zenker M<br \/>\n<em>Br J Cancer. <\/em>2015 112:1392-7.<\/p>\n<p><strong>Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations<\/strong><br \/>\nMartinelli S, Stellacci E, Pannone L, D&#8217;Agostino D, Consoli F, Lissewski C, Silvano M, Cencelli G, Lepri F, Maitz S, Pauli S, Rauch A, Zampino G, Selicorni A, Melan\u00e7on S, Digilio MC, Gelb BD, De Luca A, Dallapiccola B, Zenker M, Tartaglia M<br \/>\n<em>Hum Mutat. <\/em>2015 36:787-96.<\/p>\n<p><strong>Intragenic duplication of EHMT1 gene results in Kleefstra syndrome<\/strong><br \/>\nSchwaibold EM, Smogavec M, Hobbiebrunken E, Winter L, Zoll B, Burfeind P, Brockmann K, Pauli S<br \/>\n<em>Mol Cytogenet.<\/em> 2014 23;7(1): 74.<\/p>\n<p><strong>CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance<\/strong><br \/>\nSchulz Y, Wehner P, Opitz L, Salinas-Riester G, Bongers EM, van Ravenswaaij-Arts CM, Wincent J, Schoumans J, Kohlhase J, Borchers A, Pauli S<br \/>\n<em>Hum Genet.<\/em> 2014 Aug;133(8):997-1009.<\/p>\n<p><strong>CHARGE and Kabuki syndromes: a phenotypic and molecular link<\/strong><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 15;23(16): 4396-405.<\/p>\n<p><strong>High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors<\/strong><br \/>\nSpiegler S, Najm J, Liu J, Gkalympoudis S, Schr\u00f6der W, Borck G, Brockmann K, Elbracht M, Fauth C, Ferbert A, Freudenberg L, Grasshoff U, Hellenbroich Y, Henn W, Hoffjan S, H\u00fcning I, Korenke GC, Kroisel PM, Kunstmann E, Mair M, Munk-Schulenburg S, Nikoubashman O, Pauli S, Rudnik-Sch\u00f6neborn S, Sudholt I, Sure U, Tinschert S, Wiednig M, Zoll B, Ginsberg MH, Felbor U<br \/>\n<em>Mol Genet Genomic Med.<\/em> 2014 2(2):176-85.<\/p>\n<p><strong>Acute onset of adult Alexander disease<\/strong><br \/>\nSchmidt H, Kretzschmar B, Lingor P, Pauli S, Schramm P, Otto M, Ohlenbusch A, Brockmann K<br \/>\n<em>J Neurol Sci. <\/em>2013 331:152-4<\/p>\n<p><strong>Soft tissue perineurioma and other unusual tumors in a patient with neurofibromatosis type 1<\/strong><br \/>\nSchaefer IM, Str\u00f6bel P, Thiha A, Sohns JM, M\u00fchlfeld C, K\u00fcffer S, Felmerer G, Stepniewski A, Pauli S, Agaimy A<br \/>\n<em>Int J Clin Exp Pathol. <\/em>2013 6:3003-8. eCollection 2013<\/p>\n<p><strong>CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin<\/strong><br \/>\nPauli S, von Velsen N, Burfeind P, Steckel M, M\u00e4nz J, Buchholz A, Borozdin W, Kohlhase J<br \/>\n<em>Clin Genet.<\/em> 2012 81:234-239<\/p>\n<p><strong>Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D<\/strong><br \/>\nPauli S, Steinemann D, Dittmann K, Wienands J, Shoukier M, M\u00f6schner M, Burfeind P, Manukjan G, G\u00f6hring G, Escherich G<br \/>\n<em>Am J Med Genet A. <\/em>2012 158A:652-658.<\/p>\n<p><strong>Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes<\/strong><br \/>\nPauli S, Schmidt T, Funke R, Zoll B, Burfeind P, Dybowski U, Shoukier M, Bartels I<br \/>\n<em>Eur J Med Genet.<\/em> 2012 55:480-484.<\/p>\n<p><strong>Identification and characterization of FAM124B as a novel component of a CHD7 and CHD8 containing complex<\/strong><br \/>\nBatsukh T, Schulz Y, Wolf S, Rabe TI, Oellerich T, Urlaub H, Schaefer IM, Pauli S<br \/>\n<em>PLoS One.<\/em> 2012 7(12):e52640<\/p>\n<p><strong>The face of Noonan syndrome: Does phenotype predict genotype<\/strong><br \/>\nAllanson JE, Bohring A, D\u00f6rr HG, Dufke A, Gillessen-Kaesbach G, Horn D, K\u00f6nig R, Kratz CP, Kutsche K, Pauli S, Raskin S, Rauch A, Turner A, Wieczorek D, Zenker M<br \/>\n<em>Am J Med Genet A.<\/em> 2010 152A:1960-1966.<\/p>\n<p><strong>CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome<\/strong><br \/>\nBatsukh T, Pieper L, Koszucka AM, von Velsen N, Hoyer-Fender S, Elbracht M, Bergman JE, Hoefsloot LH, Pauli S<br \/>\n<em>Hum Mol Genet.<\/em> 2010 19:2858-66<\/p>\n<p><strong>Proven germline mosaicism in a father of two children with CHARGE syndrome<\/strong><br \/>\nPauli S, Pieper L, H\u00e4berle J, Grzmil P, Burfeind P, Steckel M, Lenz U, Michelmann HW<br \/>\n<em>Clin Genet.<\/em> 2009 75:473-479<\/p>\n<p><strong>TC II deficiency: avoidance of false negative molecular genetics by RNA based investigations<\/strong><br \/>\nH\u00e4berle J, Pauli S, Berning C, Koch HG, Linnebank M<br \/>\n<em>J Hum Genet.<\/em> 2009 54:331-334<\/p>\n<p><strong>Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia<\/strong><br \/>\nPantakani DV, Zechner U, Arygriou L, Pauli S, Sauter SM, Mannan AU<br \/>\n<em>Clin Genet.<\/em> 2008 73:268-272.<\/p>\n<p><strong>Investigation of citrullinemia type I variants by in vitro expression studies<\/strong><br \/>\nBerning C, Bieger I, Pauli S, Vermeulen T, Vogl T, Rummel T, H\u00f6hne W, Koch HG, Rolinski B,Gempel K, H\u00e4berle J<br \/>\n<em>Hum Mutat.<\/em> 2008 29:1222-1227<\/p>\n<p><strong>Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene<\/strong><br \/>\nPauli S, S\u00f6ker T, Klopp N, Illig T, Engel W, Graw J<br \/>\n<em>Mol Vis.<\/em> 2007 13:962-967.<\/p>\n<p><strong>SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome<\/strong><br \/>\nZenker M, Horn D, Wieczorek D, Allanson J, Pauli S, van der Burgt I, Doerr HG, Gaspar H, Hofbeck M, Gillessen-Kaesbach G, Koch A, Meinecke P, Mundlos S, Nowka A, Rauch A, Reif S, von Schnakenburg C,Seidel H, Wehner LE, Zweier C,Bauhuber S, Matejas V, Kratz CP, Thomas C, Kutsche K<br \/>\n<em>J Med Genet.<\/em> 2007 44:651-656.<\/p>\n<p><strong>Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies<\/strong><br \/>\nSchmidt E, Nuoffer JM, H\u00e4berle J, Pauli S, Guffon N, Vianey-Saban C, Wermuth B, Koch HG<br \/>\n<em>Biochim Biophys Acta.<\/em> 2005 1740:54-59.<\/p>\n<p><strong>Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset<\/strong><br \/>\nH\u00e4berle J, Schmidt E, Pauli S, Rapp B, Christensen E, Wermuth B, Koch HG<br \/>\n<em>Hum Mutat.<\/em> 2003 21:444<\/p>\n<p><strong>Mutation analysis in patients with N-acetylglutamate synthase deficiency<\/strong><br \/>\nH\u00e4berle J, Schmidt E, Pauli S, Kreuder JG, Plecko B, Galler A, Wermuth B, Harms E, Koch HG<br \/>\n<em>Hum Mutat <\/em>2003 21:593-7<\/p>\n<p><strong>Mild citrullinemia in caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1)<\/strong><br \/>\nH\u00e4berle J, Pauli S, Schmidt E, Schulze-Eilfing B, Berning C, Koch HG<br \/>\n<em>Mol Genet Metab.<\/em> 2003 80:302-306.<\/p>\n<p><strong>Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia<\/strong><br \/>\nH\u00e4berle J, Pauli S, Linnebank M, Kleijer WJ, Bakker HD, Wanders RJ. Harms E. Koch HG.<br \/>\n<em>Hum Genet.<\/em> 2002 110:327-333[\/vc_column_text][\/vc_column][\/mk_page_section][mk_page_section section_id=&#8221;2015&#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; css=&#8221;.vc_custom_1591339623604{margin-bottom: 0px !important;}&#8221;] Pauli Research Group [\/vc_column_text][vc_empty_space height=&#8221;50px&#8221;][vc_row_inner][vc_column_inner width=&#8221;1\/3&#8243;][vc_column_text css=&#8221;.vc_custom_1667554808424{margin-bottom: 0px !important;}&#8221;] Gina Kastens PhD student [\/vc_column_text][\/vc_column_inner][vc_column_inner width=&#8221;1\/3&#8243;][vc_column_text css=&#8221;.vc_custom_1691482875321{margin-bottom: 0px !important;}&#8221;] Dr. rer. nat. Michaela Mischak PostDoc [\/vc_column_text][\/vc_column_inner][vc_column_inner width=&#8221;1\/3&#8243;][vc_column_text css=&#8221;.vc_custom_1591339819092{margin-bottom: 0px !important;}&#8221;] Prof. Dr. med. Silke Pauli Group leader [\/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: [&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-11505","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>Arbeitsgruppe Pauli | Institut f\u00fcr Humangenetik in G\u00f6ttingen<\/title>\n<meta name=\"description\" content=\"Our research focuses on molecular and functional studies on the pathogenesis of syndromic disorders, e.g., 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