{"id":7990,"date":"2016-03-24T10:37:43","date_gmt":"2016-03-24T09:37:43","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/en\/research\/publikationen\/"},"modified":"2026-01-26T13:58:55","modified_gmt":"2026-01-26T12:58:55","slug":"publications","status":"publish","type":"page","link":"https:\/\/www.humangenetik-umg.de\/en\/research\/publications\/","title":{"rendered":"Publications"},"content":{"rendered":"
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Publications<\/span><\/h1>\n[\/vc_column_text][vc_empty_space height=”80px”][\/vc_column][\/mk_page_section][vc_row fullwidth=”true” fullwidth_content=”false” css=”.vc_custom_1470059689497{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;}” el_class=”ankernavigation-dark”][vc_column width=”1\/6″ el_class=”anker-first”][mk_fancy_title color=”#ffffff” size=”30″ margin_top=”25″ margin_bottom=”15″ font_family=”none” align=”center” animation=”scale-up”]2026<\/a>[\/mk_fancy_title][\/vc_column][vc_column width=”1\/6″ el_class=”anker-middle”][mk_fancy_title color=”#ffffff” size=”30″ margin_top=”25″ margin_bottom=”15″ font_family=”none” align=”center” animation=”scale-up”]2025<\/a>[\/mk_fancy_title][\/vc_column][vc_column width=”1\/6″ el_class=”anker-middle”][mk_fancy_title color=”#ffffff” size=”30″ margin_top=”28″ margin_bottom=”12″ font_family=”none” align=”center” animation=”scale-up”]2024<\/a>[\/mk_fancy_title][\/vc_column][vc_column width=”1\/6″ el_class=”anker-middle”][mk_fancy_title color=”#ffffff” size=”30″ margin_top=”28″ margin_bottom=”12″ font_family=”none” align=”center” animation=”scale-up”]2023<\/a>[\/mk_fancy_title][\/vc_column][vc_column width=”1\/6″ el_class=”anker-middle”][mk_fancy_title color=”#ffffff” size=”30″ margin_top=”28″ margin_bottom=”12″ font_family=”none” align=”center” animation=”scale-up”]2022<\/a>[\/mk_fancy_title][\/vc_column][vc_column width=”1\/6″ el_class=”anker-last”][mk_fancy_title color=”#ffffff” size=”30″ margin_top=”28″ margin_bottom=”12″ font_family=”none” align=”center” animation=”scale-up”]2021<\/a>[\/mk_fancy_title][\/vc_column][\/vc_row][mk_page_section min_height=”0″ padding_top=”0″ padding_bottom=”0″ section_id=”anker-1″ sidebar=”sidebar-1″][vc_column][mk_padding_divider size=”120″][\/vc_column][\/mk_page_section][mk_page_section section_id=”2026″ sidebar=”sidebar-1″][vc_column][vc_row_inner][vc_column_inner][vc_column_text el_class=”titlebox forschung-02″ css=”.vc_custom_1769432308994{margin-bottom: 0px !important;}”]\n

2026<\/h2>\n[\/vc_column_text][mk_padding_divider size=”25″ visibility=”visible-sm”][mk_padding_divider visibility=”hidden-sm”][vc_column_text el_class=”padding25lr publikationen” css=”.vc_custom_1769432339498{margin-bottom: 0px !important;}”]Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies<\/b><\/a>
\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
\nAm J Hum Genet.<\/em> 2026 Jan 12:S0002-9297(25)00478-1. doi: 10.1016\/j.ajhg.2025.12.007. Epub ahead of print
\n[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][\/vc_column][\/mk_page_section][mk_page_section min_height=”0″ padding_top=”0″ padding_bottom=”0″ section_id=”anker-1″ sidebar=”sidebar-1″][vc_column][mk_padding_divider size=”120″][\/vc_column][\/mk_page_section][mk_page_section section_id=”2025″ sidebar=”sidebar-1″][vc_column][vc_row_inner][vc_column_inner][vc_column_text el_class=”titlebox forschung-02″ css=”.vc_custom_1737381601041{margin-bottom: 0px !important;}”]\n

2025<\/h2>\n[\/vc_column_text][mk_padding_divider size=”25″ visibility=”visible-sm”][mk_padding_divider visibility=”hidden-sm”][vc_column_text el_class=”padding25lr publikationen” css=”.vc_custom_1769432371695{margin-bottom: 0px !important;}”]A Novel \u03b1-Synuclein K58N Missense Variant in a Patient with Parkinson’s Disease<\/b><\/a>
\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
\nMov Disord.<\/em> 2025 Sep 4. doi: 10.1002\/mds.70030. Epub ahead of print.<\/p>\n

Genotype-based comparison of bone microstructure in adult patients with classical osteogenesis imperfecta<\/b><\/a>
\nBartosik M, Prengel M, Delsmann J, Oswald J, Kornak U, Barvencik F, Schinke T, Amling M, Oheim R
\nOsteoporos Int.<\/em> 2025 Dec 9. doi: 10.1007\/s00198-025-07774-w. Epub ahead of print.<\/p>\n

SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis<\/b><\/a>
\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
\nJCI Insight.<\/em> 2025 Mar 25:e173484. doi: 10.1172\/jci.insight.173484. Epub ahead of print.<\/p>\n

CD4 expression controls epidermal stem cell balance<\/b>
\n<\/a>Brandes N, Hahn H, Uhmann A
\nSci Rep.<\/em> 2025 Feb 4;15(1):4185. doi: 10.1038\/s41598-025-87915-7.<\/p>\n

XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches<\/b><\/a>
\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
\nEur J Hum Genet<\/em> 2025 Mar 20. doi: 10.1038\/s41431-025-01821-0. Epub ahead of print.<\/p>\n

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism<\/b><\/a>
\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
\nAnn Neurol. <\/em>2025 Oct 6. doi: 10.1002\/ana.78013. Epub ahead of print<\/p>\n

Bone quality in pycnodysostosis: micropetrosis, locally distorted osteocyte lacuno-canalicular network, and heterogenous mineralization pattern in an adult female patient with multiple fractures<\/b><\/a>
\nFratzl-Zelman N, Blouin S, Kornak U, Hartmann MA, Kurth AA, Zwerina J
\nJBMR Plus.<\/em> 2025 Jan 23;9(4):ziaf015. doi: 10.1093\/jbmrpl\/ziaf015<\/p>\n

Paradoxical combination of osteosclerosis and osteopenia in an adult woman with biallelic TNFRSF11A loss-of-function variants escaping nonsense-mediated decay<\/b><\/a>
\nGajewski D, Hennig AF, Gr\u00fcn R, Siggelkow H, Vishnolia S, Bastian L, Taipaleenm\u00e4ki H, Schulz A, Kornak U, Hesse E
\nJBMR Plus.<\/em> 2025 Jan 8;9(3):ziae179. doi: 10.1093\/jbmrpl\/ziae179.<\/p>\n

Fbrsl1 is required for cranial neural crest development and reflects a conserved function of the human disease-associated protein<\/b><\/a>
\nGerstner S, Berger-Santangelo H, Kastens G, Scholtes T, W\u00e4schenbach S, Pauli S, Borchers A
\nDis Model Mech.<\/em> 2025 Nov 1;18(11):dmm052472. doi: 10.1242\/dmm.052472. Epub 2025 Nov 24.<\/p>\n

Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy<\/b><\/a>
\nJacob M, K\u00f6lbel H, Harrer P, Kopajtich R, Munot P, Achleitner MT, Badmann S, Brugger M, Brunet T, Bonne G, Codina M, Ebner L, Eshraghi P, Eyring K, Farhat AS, Feichtinger RG, Graf E, Marc\u00e9-Grau A, Hahn A, Houlden H, Karimiani EG, Manel V, Mayerhanser K, Nectoux J, Nelson I, Phadke R, Prokisch H, Sadeghian S, Saparov A, Sch\u00e4nzer A, Schara-Schmidt U, Schmidt J, Schuler R, Sewry C, Shariati G, Slanz S, Smirnov D, Sukenik-Halevy R, Tajsharghi H, Toosi MB, Trujillano L, Weis J, Wilson LC, Ben Yaou R, Zamani M, Zech M, Zsch\u00fcntzsch J, Kornak U, Gom\u00e9z-Andr\u00e9s D, Maroofian R, Winkelmann J, Roos A, Distelmaier F, Mayr JA, Wagner M
\nBrain<\/em>. 2025 Jun 11:awaf227. doi: 10.1093\/brain\/awaf227. Epub ahead of print.<\/p>\n

A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia<\/b><\/a>
\nJacobs J, Lyubenova H, Potelle S, Kopp J, Gerin I, Chan WL, Rodriguez de Los Santos M, H\u00fclsemann W, Mensah MA, Cormier-Daire V, Joosten M, Bruggenwirth HT, Stuurman KE, Miranda V, Campeau PM, Wittler L, Graff J, Mundlos S, Ibrahim DM, Van Schaftingen E, Fischer-Zirnsak B, Kornak U, Ehmke N, Bommer GT
\nNature<\/em>. 2025 Aug 20. doi: 10.1038\/s41586-025-09397-x. Epub ahead of print.<\/p>\n

Engineered heart muscle allografts for heart repair in primates and humans. <\/b><\/a>
\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
\nNature<\/em>. 2025 Jan 29. doi: 10.1038\/s41586-024-08463-0. Epub ahead of print.<\/p>\n

FBRSL1 regulates the expression of chromatin regulators BRPF1 and KAT6A<\/b><\/a>
\nKastens G, Berger-Santangelo H, Gerstner S, Ufartes R, Mischak M, Borchers A, Pauli S
\nHum Genet.<\/em> 2025 Jul 14. doi: 10.1007\/s00439-025-02760-y. Epub ahead of print.<\/p>\n

Results of Chromosomal Microarray Need to Always Be Checked by (Molecular) Cytogenetics-Even If They Seem to Be Simple Deletions<\/b><\/a>
\nLiehr T, Singer S, Mau-Holzmann U, Kankel S, Padutsch N, Person L, Daumiller E, Kornak U
\nGenes <\/em>(Basel). 2025 Jun 17;16(6):714. doi: 10.3390\/genes16060714.<\/p>\n

Isolation, Culture, and Analyses of Keratinocytes, Fibroblasts, and Hair Follicles from Normal Human Skin and Cancer-Associated Fibroblasts from Skin Tumors<\/b>
\n<\/a>Lorenz VN, Uhmann A
\nMethods Mol Biol. <\/em>2025 Sep 25. doi: 10.1007\/7651_2025_663. Online ahead of print.<\/p>\n

Autosomal Dominant Osteopetrosis – Identification of a New Mutation<\/b><\/a>
\nMonteiro I, Moutinho-Pereira S, Kornak U, Carneiro L
\nEur J Case Rep Intern Med.<\/em> 2025 Dec 23;12(12):006042. doi: 10.12890\/2025_006042.<\/p>\n

Autosomal recessive hypophosphatemic rickets type 2 (ARHR2): Is phosphate supplementation safe?<\/b><\/a>
\nMunteanu M, Rutsch F, Nitschke Y, Kornak U, Kiewert C, Spiekermann J, H\u00f6ppner J, Grasemann C
\nBone.<\/em> 2025 Oct 30;202:117698. doi: 10.1016\/j.bone.2025.117698. Epub ahead of print.<\/p>\n

The role of genetics in inherited cardiac diseases<\/b><\/a>
\nRappold G, Wollnik B
\nMed Genet.<\/em> 2025 Apr 8;37(2):93-94. doi: 10.1515\/medgen-2025-2004.<\/p>\n

Triclosan exacerbates atopic dermatitis in mouse models via thymic stromal lymphopoietin<\/b>
\n<\/a>Schuppe MC, Porebski P, Hahn KK, Liao K, Uhmann A, Braun A, Dasari P, Sch\u00f6n MP, Buhl T
\nJ Dermatol Sci.<\/em> 2025 Apr;118(1):1-8. doi: 10.1016\/j.jdermsci.2025.02.007<\/p>\n

Identification of Novel Susceptibility Genes for Early-Onset Colorectal Cancer Through Germline Rare Variant Burden Testing<\/b><\/a>
\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
\nCancers (Basel).<\/em> 2025 Dec 9;17(24):3931. doi: 10.3390\/cancers17243931.<\/p>\n

KRASG12C-inhibitor-based combination therapies for pancreatic cancer: insights from drug screening<\/b><\/a>
\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
\nMol Oncol<\/em> 2025 Feb;19(2):295-310. doi: 10.1002\/1878-0261.13725. Epub 2024 Sep 10.<\/p>\n

Phenotypes linked to duplication upstream of SOX9: New insights into presentation and diagnosis<\/b><\/a>
\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
\nJ Clin Endocrinol Metab<\/em> 2025 Jan 15:dgaf020. doi: 10.1210\/clinem\/dgaf020. Epub ahead of print.<\/p>\n

Is CABP2-Associated Hearing Loss (DFNB93) a Gene Therapy Target? Preclinical Progress and Patient Registry<\/b><\/a>
\nVona B, Wollnik B, Strenzke N, Pangr\u0161i\u010d T, Moser T
\nMedComm<\/em> 2025 6(9):e70363. doi: 10.1002\/mco2.70363.<\/p>\n

Understanding inherited cardiomyopathies: clinical aspects and genetic determinants<\/b><\/a>
\nYigit G, Kaulfu\u00df S, Wollnik B
\nMed Genet.<\/em> 2025 Apr 8;37(2):103-111. doi: 10.1515\/medgen-2025-2007.[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][\/vc_column][\/mk_page_section][mk_page_section min_height=”0″ padding_top=”0″ padding_bottom=”0″ section_id=”anker-1″ sidebar=”sidebar-1″][vc_column][mk_padding_divider size=”120″][\/vc_column][\/mk_page_section][mk_page_section section_id=”2024″ sidebar=”sidebar-1″][vc_column][vc_row_inner][vc_column_inner][vc_column_text el_class=”titlebox forschung-02″ css=”.vc_custom_1706706705760{margin-bottom: 0px !important;}”]\n

2024<\/h2>\n[\/vc_column_text][mk_padding_divider size=”25″ visibility=”visible-sm”][mk_padding_divider visibility=”hidden-sm”][vc_column_text el_class=”padding25lr publikationen” css=”.vc_custom_1739369979331{margin-bottom: 0px !important;}”]A Novel MAG Variant Causes Hereditary Spastic Paraplegia in a Consanguineous Pakistani Family<\/b><\/a>
\nAkram R, Anwar H, Muzaffar H, Turchetti V, Lau T, Vona B, Makhdoom EUH, Iqbal J, Mahmood Baig S, Hussain G, Efthymiou S, Houlden H
\nGenes (Basel).<\/em> 2024 Sep 13;15(9):1203. doi: 10.3390\/genes15091203.<\/p>\n

Genetic landscape of hearing loss in prelingual deaf patients of eastern Iran: Insights from exome sequencing analysis<\/b><\/a>
\nAlerasool M, Eslahi A, Vona B, Kahaei MS, Mojaver NK, Rajati M, Pasdar A, Ghasemi MM, Saburi E, Ardehaie RM, Aval MH, Tale MR, Nourizadeh N, Afzalzadeh MR, Niknezhad HT, Mojarrad M
\nClin Genet<\/em> 2024 Aug 6. doi: 10.1111\/cge.14599. Epub ahead of print.<\/p>\n

Fbrsl1 is required for heart development in Xenopus laevis and de novo variants in FBRSL1 can cause human heart defects<\/b><\/a>
\nBerger H, Gerstner S, Horstmann MF, Pauli S, Borchers A
\nDis Model Mech<\/em> 2024 Mar 19:dmm.050507. doi: 10.1242\/dmm.050507. Epub ahead of print.<\/p>\n

Mutation-induced LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome<\/b><\/a>
\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
\nCell Rep<\/em> 2024 Jul 13;43(7):114448. doi: 10.1016\/j.celrep.2024.114448. Epub ahead of print.<\/p>\n

Targeting TGF-\u03b2 signaling, oxidative stress, and cellular senescence rescues osteoporosis in gerodermia osteodysplastica<\/b><\/a>
\nChan WL, Bucher CH, Goldes J, Ma AC, Steiner M, Willie BM, Mundlos S, Kornak U
\nAging Cell<\/em> 2024 Sep 5:e14322. doi: 10.1111\/acel.14322. Epub ahead of print.<\/p>\n

Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications<\/b><\/a>
\nChelban V, Aksnes H, Maroofian R, LaMonica LC, Seabra L, Siggerv\u00e5g A, Devic P, Shamseldin HE, Vandrovcova J, Murphy D, Richard AC, Quenez O, Bonnevalle A, Zanetti MN, Kaiyrzhanov R, Salpietro V, Efthymiou S, Schottlaender LV, Morsy H, Scardamaglia A, Tariq A, Pagnamenta AT, Pennavaria A, Krogstad LS, Bekkelund \u00c5K, Caiella A, Glomnes N, Br\u00f8nstad KM, Tury S, Moreno De Luca A, Boland-Auge A, Olaso R, Deleuze JF, Anheim M, Cretin B, Vona B, Alajlan F, Abdulwahab F, Battini JL, \u0130pek R, Bauer P, Zifarelli G, Gungor S, Kurul SH, Lochmuller H, Da’as SI, Fakhro KA, G\u00f3mez-Pascual A, Bot\u00eda JA, Wood NW, Horvath R, Ernst AM, Rothman JE, McEntagart M, Crow YJ, Alkuraya FS, Nicolas G; SYNaPS Study Group; Arnesen T, Houlden H
\nNat Commun<\/em> 2024 Mar 13;15(1):2269. doi: 10.1038\/s41467-024-46354-0.<\/p>\n

Ca2+-binding to the C2E domain of otoferlin is required for hair cell exocytosis and hearing<\/b><\/a>
\nChen H, Monga M, Fang Q, Slitin L, Neef J, Chepurwar SS, Mingroni Netto RC, Lezirovitz K, Tabith A Jr, Benseler F, Brose N, Kusch K, Wichmann C, Strenzke N, Vona B, Preobraschenski J, Moser T
\nProtein Cell<\/em> 2024 Apr 1;15(4):305-312. doi: 10.1093\/procel\/pwad058.<\/p>\n

Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome<\/b><\/a>
\nEfthymiou S, Scala M, Nagaraj V, Ochenkowska K, Komdeur FL, Liang RA, Abdel-Hamid MS, Sultan T, Bar\u00f8y T, Van Ghelue M, Vona B, Maroofian R, Zafar F, Alkuraya FS, Zaki MS, Severino M, Duru KC, Tryon RC, Brauteset LV, Ansari M, Hamilton M, van Haelst MM, van Haaften G, Zara F, Houlden H, Samarut \u00c9, Nichols CG, Smeland MF, McClenaghan C
\nBrain<\/em> 2024 Jan 13:awae010. doi: 10.1093\/brain\/awae010. Online ahead of print.<\/p>\n

A burden shared: The evolutionary case for studying human deafness in Drosophila<\/b><\/a>
\nGuan C, Shaikh M, Warnecke A, Vona B, Albert JT
\nHear Res.<\/em> 2024 Jun 15;450:109047. doi: 10.1016\/j.heares.2024.109047. Epub ahead of print.<\/p>\n

An NFATc1\/SMAD3\/cJUN Complex Restricted to SMAD4-Deficient Pancreatic Cancer Guides Rational Therapies<\/b>
\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
\nGastroenterology<\/em> 2024 Feb;166(2):298-312.e14. doi: 10.1053\/j.gastro.2023.10.026. Epub 2023 Oct 31.<\/p>\n

Multi-gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias<\/b>
\n<\/a>Kakar N, Rehman FU, Kaur R, Bhavani GS, Goyal M, Shah H, Kaur K, Sodhi KS, Kubisch C, Borck G, Panigrahi I, Girisha KM, Kornak U, Spielmann M
\nClin Genet<\/em> 2024 Feb 20. doi: 10.1111\/cge.14509. Epub ahead of print.<\/p>\n

Preclinical evaluation of CRISPR-based therapies for Noonan syndrome caused by deep-intronic LZTR1 variants<\/b>
\n<\/a>Knauer C, Haltern H, Schoger E, K\u00fcgler S, Roos L, Zelaray\u00e1n LC, Hasenfuss G, Zimmermann WH, Wollnik B, Cyganek L
\nMol Ther Nucleic Acids<\/em> 2024 Jan 23;35(1):102123. doi: 10.1016\/j.omtn.2024.102123.<\/p>\n

Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome<\/b><\/a>
\nKoparir A, Lekszas C, Keseroglu K, Rose T, Rappl L, Rad A, Maroofian R, Narendran N, Hasanzadeh A, Karimiani EG, Boschann F, Kornak U, Klopocki E, \u00d6zbudak EM, Vona B, Haaf T, Liedtke D
\nHum Genomics<\/em> 2024 Mar 6;18(1):23. doi: 10.1186\/s40246-024-00593-w.<\/p>\n

Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy<\/b><\/a>
\nKopp J, Koch LA, Lyubenova H, K\u00fcchler O, Holtgrewe M, Ivanov A, Dubourg C, Launay E, Brachs S, Mundlos S, Ehmke N, Seelow D, Fradin M, Kornak U, Fischer-Zirnsak B
\nHum Genet<\/em> 2024 Apr 9. doi: 10.1007\/s00439-024-02669-y. Epub ahead of print.<\/p>\n

Golgi pH elevation due to loss of V-ATPase subunit V0a2 function correlates with tissue-specific glycosylation changes and globozoospermia<\/b><\/a>
\nKopp J, Jahn D, Vogt G, Psoma A, Ratto E, Morelle W, Stelzer N, Hausser I, Hoffmann A, de Los Santos MR, Koch LA, Fischer-Zirnsak B, Thiel C, Palm W, Meierhofer D, van den Bogaart G, Foulquier F, Meinhardt A, Kornak U
\nCell Mol Life Sci<\/em> 2024 Dec 16;82(1):4. doi: 10.1007\/s00018-024-05506-7.<\/p>\n

A TAF11 variant contributes to non-syndromic cleft lip only through modulating neural crest cell migration<\/b><\/a>
\nLi D, Tian Y, Vona B, Yu X, Lin J, Ma L, Lou S, Li X, Zhu G, Wang Y, Du M, Wang L, Pan Y
\nHum Mol Genet.<\/em> 2024 Dec 27:ddae188. doi: 10.1093\/hmg\/ddae188. Epub ahead of print.<\/p>\n

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features<\/b>
\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’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
\nJ Clin Invest<\/em> 2024 Jan 2;134(1):e171235. doi: 10.1172\/JCI171235<\/p>\n

METTL3-dependent m6A modification of PSEN1 mRNA regulates craniofacial development through the Wnt\/\u03b2-catenin signaling pathway<\/b><\/a>
\nMa L, Zhou X, Yao S, Zhang X, Mao J, Vona B, Fan L, Lou S, Li D, Wang L, Pan Y
\nCell Death Dis<\/em> 2024 Mar 20;15(3):229. doi: 10.1038\/s41419-024-06606-9.<\/p>\n

Biallelic variants in SLC4A10 encoding the sodium-dependent chloride-bicarbonate exchanger NCBE lead to a neurodevelopmental disorder<\/b><\/a>
\nMaroofian R, Zamani M, Kaiyrzhanov R, Liebmann L, Ghayoor Karimiani E, Vona B, Huebner AK, Calame DG, Misra VK, Sadeghian S, Azizimalamiri R, Mohammadi MH, Zeighami J, Heydaran S, Beiraghi Toosi M, Akhondian J, Babaei M, Hashemi N, Schnur RE, Suri M, Setzke J, Wagner M, Brunet T, Grochowski CM, Emrick L, Chung WK, Hellmich UA, Schmidts M, Lupski JR, Galehdari H, Severino M, Houlden H, H\u00fcbner CA
\nGenet Med<\/em> 2024 Mar;26(3):101034. doi: 10.1016\/j.gim.2023.101034.<\/p>\n

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>
\n<\/a>Maurer W, Rebs S, K\u00f6hne S, Eberl H, Wollnik B, Zibat A, Streckfuss-B\u00f6meke K
\nStem Cell Res<\/em> 2024 Mar 29;77:103409. doi: 10.1016\/j.scr.2024.103409. Epub ahead of print.<\/p>\n

Clarin-2 gene supplementation durably preserves hearing in a model of progressive hearing loss<\/b><\/a>
\nMendia C, Peineau T, Zamani M, Felgerolle C, Yahiaoui N, Christophersen N, Papal S, Maudoux A, Maroofian R, Patni P, Nouaille S, Bowl MR, Delmaghani S, Galehdari H, Vona B, Dulon D, Vitry S, El-Amraoui A
\nMol Ther<\/em> 2024 Mar 6;32(3):800-817. doi: 10.1016\/j.ymthe.2024.01.021.<\/p>\n

Gene therapy for deafness: are we there now?<\/b><\/a>
\nMoser T, Chen H, Kusch K, Behr R, Vona B
\nEMBO Mol Med<\/em> 2024 Apr;16(4):675-677. doi: 10.1038\/s44321-024-00058-6. Epub 2024 Mar 25.<\/p>\n

An inappropriate decline in ribosome levels drives a diverse set of neurodevelopmental disorders<\/b><\/a>
\nNi C, Yu L, Vona B, Park D, Wei Y, Schmitz DA, Wei Y, Ding Y, Sakurai M, Ballard E, Liu Y, Kumar A, Xing C, Kim HG, Ekmekci C, Karimiani EG, Imannezhad S, Eghbal F, Badv RS, Schwaibold EMC, Dehghani M, Mehrjardi MYV, Metanat Z, Eslamiyeh H, Khouj E, Alhajj SMN, Chedrawi A, Alves CAPF, Houlden H, Kruer M, Alkuraya FS, Cenik C, Maroofian R, Wu J, Buszczak M
\nbioRxiv [Preprint]<\/em> 2024 Jan 9:2024.01.09.574708. doi: 10.1101\/2024.01.09.574708.<\/p>\n

3D Super-Resolution Nuclear Q-FISH Imaging Reveals Cell-Cycle-Related Telomere Changes<\/b>
\n<\/a>Pochechueva TV, Schwenzer N, Kohl T, Brandenburg S, Kaltenecker G, Wollnik B, Lehnart SE
\nInt J Mol Sci<\/em> 2024 Mar 10;25(6):3183. doi: 10.3390\/ijms25063183.<\/p>\n

3D Phenotypic and Genetic Spectrum in 309 Consecutive Pediatric Patients with Inherited Retinal Disease<\/b>
\n<\/a>Priglinger CS, Gerhardt MJ, Priglinger SG, Schaumberger M, Neuhann TM, Bolz HJ, Mehraein Y, Rudolph G
\nInt J Mol Sci.<\/em> 2024 Nov 14;25(22):12259. doi: 10.3390\/ijms252212259.<\/p>\n

Expanding the spectrum of phenotypes for MPDZ: Report of four unrelated families and review of the literature<\/b><\/a>
\nRad A, Bartsch O, Bakhtiari S, Zhu C, Xu Y, Monteiro FP, Kok F, Vulto-van Silfhout AT, Kruer MC, Bowl MR, Vona B
\nClin Genet.<\/em> 2024 Jun 10. doi: 10.1111\/cge.14563. Epub ahead of print.<\/p>\n

Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism<\/b><\/a>
\nRahman F, Marsili L, Pasquetti D, Rad A, Nadeem Anjum M, Oprea G, Cheema HA, Vona B, Augusto Alves C, Houlden H, Maqbool S, Efthymiou S, Smol T, Maroofian R
\nEur J Hum Genet.<\/em> 2024 Dec 12. doi: 10.1038\/s41431-024-01759-9. Epub ahead of print.<\/p>\n

Reliability of high-quantity human brain organoids for modeling microcephaly, glioma invasion and drug screening<\/b><\/a>
\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’Alessandris QG, Wollnik B, Muotri A, Freifeld L, Jurisch-Yaksi N, Pallini R, Rose CR, Busskamp V, Gabriel E, Hadian K, Gopalakrishnan J
\nNat Commun<\/em> 2024 Dec 19;15(1):10703. doi: 10.1038\/s41467-024-55226-6<\/p>\n

Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2<\/b><\/a>
\nRamzan M, Zafeer MF, Abad C, Guo S, Owrang D, Alper O, Mutlu A, Atik T, Duman D, Bademci G, Vona B, Kalcioglu MT, Walz K, Tekin M
\nEur J Hum Genet<\/em> 2024 Feb 19. doi: 10.1038\/s41431-024-01562-6. Epub ahead of print.<\/p>\n

Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder<\/b><\/a>
\nRawlins LE, Maroofian R, Cannon SJ, Daana M, Zamani M, Ghani S, Leslie JS, Ubeyratna N, Khan N, Khan H, Scardamaglia A, Cloarec R, Khan SA, Umair M, Sadeghian S, Galehdari H, Al-Maawali A, Al-Kindi A, Azizimalamiri R, Shariati G, Ahmad F, Al-Futaisi A, Rodriguez Cruz PM, Salazar-Villacorta A, Ndiaye M, Diop AG, Sedaghat A, Saberi A, Hamid M, Zaki MS, Vona B, Owrang D, Alhashem AM, Obeid M, Khan A, Beydoun A, Najjar M, Tajsharghi H, Zifarelli G, Bauer P, Hakami WS, Hashem AMA, Boustany RN, Burglen L, Alavi S, Gunning AC, Owens M, Karimiani EG, Gleeson JG, Milh M, Salah S, Khan J, Haucke V, Wright CF, McGavin L, Elpeleg O, Shabbir MI, Houlden H, Ebner M, Baple EL, Crosby AH
\nGenet Med.<\/em> 2024 Sep 20:101278. doi: 10.1016\/j.gim.2024.101278. Epub ahead of print.<\/p>\n

PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss<\/b><\/a>
\nRedfield SE, De-la-Torre P, Zamani M, Wang H, Khan H, Morris T, Shariati G, Karimi M, Kenna MA, Seo GH, Xu H, Lu W, Naz S, Galehdari H, Indzhykulian AA, Shearer AE, Vona B
\nHum Genet<\/em> 2024 Mar 9. doi: 10.1007\/s00439-024-02649-2. Epub ahead of print.<\/p>\n

Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes<\/b>
\n<\/a>Schmidt J, Kaulfu\u00df S, Ott H, Gaubert M, Reintjes N, Bremmer F, Dreha-Kulaczewski S, Stroebel P, Yigit G, Wollnik B
\nHum Genet<\/em> 2024 Jan 24. doi: 10.1007\/s00439-023-02634-1. Epub ahead of print.<\/p>\n

Association of antenatal evaluations with postmortem and genetic findings in the series of fetal osteogenesis imperfecta<\/b>
\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
\nFetal Diagn Ther<\/em> 2024 Feb 12. doi: 10.1159\/000536324. Epub ahead of print.<\/p>\n

Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades<\/b><\/a>
\nShadab M, Abbasi AA, Ejaz A, Ben-Mahmoud A, Gupta V, Kim HG, Vona B
\nJ Cell Mol Med<\/em> 2024 Apr;28(8):e18119. doi: 10.1111\/jcmm.18119.<\/p>\n

Functional characterization of PI3K C2 domain mutations detected in breast cancer circulating tumor cells and metastatic cells<\/b><\/a>
\nSmit DJ, Brauer H, Horn S, Yigit G, Haider MT, Pogenberg V, Schumacher U, Pantel K, J\u00fccker M
\nCell Signal<\/em> 2024 Jun 21;121:111270. doi: 10.1016\/j.cellsig.2024.111270. Epub ahead of print.<\/p>\n

A Homozygous MYH1 Variant Underlies Autosomal Recessive Isolated Recurrent Rhabdomyolysis<\/b><\/a>
\nUctepe E, Manc\u0131lar H, Esen FN, Unverengil GG, Vona B, Yesilyurt A
\nAm J Med Genet A.<\/em> 2024 Dec 17:e63952. doi: 10.1002\/ajmg.a.63952. Epub ahead of print.<\/p>\n

Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly<\/b><\/a>
\nUctepe E, Vona B, Esen FN, Sonmez FM, Smol T, T\u00fcmer S, Manc\u0131lar H, Geylan Durgun DE, Boute O, Moghbeli M, Ghayoor Karimiani E, Hashemi N, Bakhshoodeh B, Kim HG, Maroofian R, Yesilyurt A
\nEur J Hum Genet<\/em> 2024 Jan;32(1):52-60. doi: 10.1038\/s41431-023-01461-2.<\/p>\n

Rethinking non-syndromic hearing loss and its mimics in the genomic era<\/b><\/a>
\nVona B
\nEur J Hum Genet<\/em> 2024 Mar 6. doi: 10.1038\/s41431-024-01579-x. Epub ahead of print.<\/p>\n

Catching up but still miles behind-a patient registry for otoferlin<\/b><\/a>
\nVona B, Wollnik B, Strenzke N, Moser T
\nExp Mol Med.<\/em> 2024 Jun;56(6):1472-1473. doi: 10.1038\/s12276-024-01247-6. Epub 2024 Jun 3.<\/p>\n

Calculating future 10-year breast cancer risks in risk-adapted surveillance: A method comparison and application in clinical practice<\/b><\/a>
\nZachariae S, Quante AS, Kiechle M, Rhiem K, Fehm TN, Schr\u00f6der JG, Horvath J, Leinert E, Dikow N, Ronez J, Sch\u00f6nfeld M, van Mackelenbergh MT, Schatz UA, Meisel C, Aktas B, Witt D, Mehraein Y, Weber BHF, Solbach C, Speiser D, Hoyer J, Faigle-Krehl G, Much CD, Mueller-Rausch AV, Villavicencio-Lorini P, Banys-Paluchowski M, Pieh D, Schmutzler RK, Fischer C, Engel C
\nCancer Prev Res (Phila)<\/em>. 2024 Nov 22. doi: 10.1158\/1940-6207.CAPR-24-0328. Online ahead of print.[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][\/vc_column][\/mk_page_section][mk_page_section min_height=”0″ padding_top=”0″ padding_bottom=”0″ section_id=”anker-1″ sidebar=”sidebar-1″][vc_column][mk_padding_divider size=”120″][\/vc_column][\/mk_page_section][mk_page_section section_id=”2023″ sidebar=”sidebar-1″][vc_column][vc_row_inner][vc_column_inner][vc_column_text el_class=”titlebox forschung-02″ css=”.vc_custom_1675420205959{margin-bottom: 0px !important;}”]\n

2023<\/h2>\n[\/vc_column_text][mk_padding_divider size=”25″ visibility=”visible-sm”][mk_padding_divider visibility=”hidden-sm”][vc_column_text el_class=”padding25lr publikationen” css=”.vc_custom_1706706564415{margin-bottom: 0px !important;}”]Comprehensive identification of gene expression fingerprints and biomarkers of sexual endocrine disruption in zebrafish embryo<\/b>
\n<\/a>Ayobahan SU, Alvincz J, Reinwald H, Strompen J, Salinas G, Sch\u00e4fers C, Eilebrecht E, Eilebrecht S
\nEcotoxicol Environ Saf<\/em> 2023 Jan 15;250:114514. doi: 10.1016\/j.ecoenv.2023.114514. Epub 2023 Jan 4.<\/p>\n

Phenotypic specificity in patients with neurodevelopmental delay does not correlate with diagnostic yield of trio-exome sequencing<\/b>
\n<\/a>Baalmann N, Spielmann M, Gillessen-Kaesbach G, Hanker B, Schmidt J, Lill CM, Hellenbroich Y, Greiten B, Lohmann K, Trinh J, H\u00fcning I
\nEur J Med Genet<\/em> 2023 Apr 27:104774. doi: 10.1016\/j.ejmg.2023.104774. Epub ahead of print.<\/p>\n

B3GALT6-linkeropathy: Three illustrative patients spanning the disease spectrum<\/b>
\n<\/a>Coetzer KC, Dieckerhoff J, Wollnik B, Moosa S
\nEur J Med Genet<\/em> 2023 Aug 30;66(10):104829. doi: 10.1016\/j.ejmg.2023.104829.<\/p>\n

Combining ferroptosis induction with MDSC blockade renders primary tumours and metastases in liver sensitive to immune checkpoint blockade<\/b>
\n<\/a>Conche C, Finkelmeier F, Pe\u0161i\u0107 M, Nicolas AM, B\u00f6ttger TW, Kennel KB, Denk D, Ceteci F, Mohs K, Engel E, Canli \u00d6, Dabiri Y, Peiffer KH, Zeuzem S, Salinas G, Longerich T, Yang H, Greten FR
\nGut<\/em> 2023 Jan 27:gutjnl-2022-327909. doi: 10.1136\/gutjnl-2022-327909. Online ahead of print.<\/p>\n

mRNA Abundance of Neurogenic Factors Correlates with Hearing Capacity in Auditory Brainstem Nuclei of the Rat<\/b><\/a>
\nEngert J, Doll J, Vona B, Ehret Kasemo T, Spahn B, Hagen R, Rak K, Voelker J
\nLife (Basel)<\/em> 2023 Sep 2;13(9):1858. doi: 10.3390\/life13091858.<\/p>\n

Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans<\/b>
\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
\nAm J Hum Genet<\/em> 2023 Jun 20:S0002-9297(23)00202-1. doi: 10.1016\/j.ajhg.2023.06.001. Epub ahead of print.<\/p>\n

Single-cell transcriptomics identifies new blood cell populations in Drosophila released at the onset of metamorphosis<\/b>
\n<\/a>Hirschh\u00e4user A, Molitor D, Salinas G, Gro\u00dfhans J, Rust K, Bogdan S
\nDevelopment<\/em> 2023 Sep 7:dev.201767. doi: 10.1242\/dev.201767. Epub ahead of print.<\/p>\n

The enhancer landscape predetermines the skeletal regeneration capacity of stromal cells<\/b>
\n<\/a>Hochmann S, Ou K, Poupardin R, Mittermeir M, Textor M, Ali S, Wolf M, Ellinghaus A, Jacobi D, Elmiger JAJ, Donsante S, Riminucci M, Sch\u00e4fer R, Kornak U, Klein O, Schallmoser K, Schmidt-Bleek K, Duda GN, Polansky JK, Geissler S, Strunk D
\nSci Transl Med<\/em> 2023 Mar 22;15(688):eabm7477. doi: 10.1126\/scitranslmed.abm7477. Epub 2023 Mar 22.<\/p>\n

Single-cell, whole-embryo phenotyping of mammalian developmental disorders<\/b>
\n<\/a>Huang X, Henck J, Qiu C, Sreenivasan VKA, Balachandran S, Amarie OV, Hrab\u011b de Angelis M, Behncke RY, Chan WL, Despang A, Dickel DE, Duran M, Feuchtinger A, Fuchs H, Gailus-Durner V, Haag N, H\u00e4gerling R, Hansmeier N, Hennig F, Marshall C, Rajderkar S, Ringel A, Robson M, Saunders LM, da Silva-Buttkus P, Spielmann N, Srivatsan SR, Ulferts S, Wittler L, Zhu Y, Kalscheuer VM, Ibrahim DM, Kurth I, Kornak U, Visel A, Pennacchio LA, Beier DR, Trapnell C, Cao J, Shendure J, Spielmann M
\nNature<\/em> 2023 Nov 15. doi: 10.1038\/s41586-023-06548-w. Epub ahead of print.<\/p>\n

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders<\/b><\/a>
\nKaiyrzhanov R, Rad A, Lin SJ, Bertoli-Avella A, Kallemeijn WW, Godwin A, Zaki MS, Huang K, Lau T, Petree C, Efthymiou S, Ghayoor Karimiani E, Hempel M, Normand EA, Rudnik-Sch\u00f6neborn S, Schatz UA, Baggelaar MP, Ilyas M, Sultan T, Alvi JR, Ganieva M, Fowler B, Aanicai R, Akay Tayfun G, Al Saman A, Alswaid A, Amiri N, Asilova N, Shotelersuk V, Yeetong P, Azam M, Babaei M, Bahrami Monajemi G, Mohammadi P, Samie S, Banu SH, Basto JP, Kort\u00fcm F, Bauer M, Bauer P, Beetz C, Garshasbi M, Hameed Issa A, Eyaid W, Ahmed H, Hashemi N, Hassanpour K, Herman I, Ibrohimov S, Abdul-Majeed BA, Imdad M, Isrofilov M, Kaiyal Q, Khan S, Kirmse B, Koster J, Louren\u00e7o CM, Mitani T, Moldovan O, Murphy D, Najafi M, Pehlivan D, Rocha ME, Salpietro V, Schmidts M, Shalata A, Mahroum M, Talbeya JK, Taylor RW, Vazquez D, Vetro A, Waterham HR, Zaman M, Schrader TA, Chung WK, Guerrini R, Lupski JR, Gleeson J, Suri M, Jamshidi Y, Bhatia KP, Vona B, Schrader M, Severino M, Guille M, Tate EW, Varshney GK, Houlden H, Maroofian R
\nBrain<\/em> 2023 Nov 10:awad380. doi: 10.1093\/brain\/awad380. Epub ahead of print.<\/p>\n

Lysinuric protein intolerance caused by a homozygous SLC7A7 deletion and presented with hyperferritinemia and osteoporosis in two siblings<\/b>
\n<\/a>Kalay I, Aykut H, Caliskan Z, Yigit G, Wollnik B
\nMol Genet Metab Rep<\/em> 2023 Nov 16;37:101022. doi: 10.1016\/j.ymgmr.2023.101022.<\/p>\n

Elastin stabilization prevents impaired biomechanics in human pulmonary arteries and pulmonary hypertension in rats with left heart disease<\/b>
\n<\/a>Kucherenko MM, Sang P, Yao J, Gransar T, Dhital S, Grune J, Simmons S, Michalick L, Wulsten D, Thiele M, Shomroni O, Hennig F, Yeter R, Solowjowa N, Salinas G, Duda GN, Falk V, Vyavahare NR, Kuebler WM, Knosalla C
\nNat Commun<\/em> 2023 Jul 21;14(1):4416. doi: 10.1038\/s41467-023-39934-z.<\/p>\n

Surveillance of 3′ mRNA cleavage during transcription termination requires CF IB\/Hrp1<\/b>
\n<\/a>Li J, Querl L, Coban I, Salinas G, Krebber H
\nNucleic Acids Res<\/em> 2023 Sep 8;51(16):8758-8773. doi: 10.1093\/nar\/gkad530.<\/p>\n

Concurrent Activation of Both Survival-Promoting and Death-Inducing Signaling by Chloroquine in Glioblastoma Stem Cells: Implications for Potential Risks and Benefits of Using Chloroquine as Radiosensitizer<\/b>
\n<\/a>M\u00fcller A, Weyerh\u00e4user P, Berte N, Jonin F, Lyubarskyy B, Sprang B, Kantelhardt SR, Salinas G, Opitz L, Schulz-Schaeffer W, Giese A, Kim EL
\nCells<\/em> 2023 Apr 30;12(9):1290. doi: 10.3390\/cells12091290.<\/p>\n

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases<\/b><\/a>
\nPagnamenta AT, Camps C, Giacopuzzi E, Taylor JM, Hashim M, Calpena E, Kaisaki PJ, Hashimoto A, Yu J, Sanders E, Schwessinger R, Hughes JR, Lunter G, Dreau H, Ferla M, Lange L, Kesim Y, Ragoussis V, Vavoulis DV, Allroggen H, Ansorge O, Babbs C, Banka S, Ba\u00f1os-Pi\u00f1ero B, Beeson D, Ben-Ami T, Bennett DL, Bento C, Blair E, Brasch-Andersen C, Bull KR, Cario H, Cilliers D, Conti V, Davies EG, Dhalla F, Dacal BD, Dong Y, Dunford JE, Guerrini R, Harris AL, Hartley J, Hollander G, Javaid K, Kane M, Kelly D, Kelly D, Knight SJL, Kreins AY, Kvikstad EM, Langman CB, Lester T, Lines KE, Lord SR, Lu X, Mansour S, Manzur A, Maroofian R, Marsden B, Mason J, McGowan SJ, Mei D, Mlcochova H, Murakami Y, N\u00e9meth AH, Okoli S, Ormondroyd E, Ousager LB, Palace J, Patel SY, Pentony MM, Pugh C, Rad A, Ramesh A, Riva SG, Roberts I, Roy N, Salminen O, Schilling KD, Scott C, Sen A, Smith C, Stevenson M, Thakker RV, Twigg SRF, Uhlig HH, van Wijk R, Vona B, Wall S, Wang J, Watkins H, Zak J, Schuh AH, Kini U, Wilkie AOM, Popitsch N, Taylor JC
\nGenome Med<\/em> 2023 Nov 9;15(1):94. doi: 10.1186\/s13073-023-01240-0.<\/p>\n

Not to miss: Intronic variants, treatment, and review of the phenotypic spectrum in VPS13D-related disorder<\/b><\/a>
\nPauly MG, Br\u00fcggemann N, Efthymiou S, Gr\u00f6zinger A, Diaw SH, Chelban V, Turchetti V, Vona B, Tadic V, Houlden H, M\u00fcnchau A, Lohmann K
\nInt J Mol Sci<\/em> 2023 23(3):1874. doi.org\/10.3390\/ijms24031874.<\/p>\n

PKHD1L1, A Gene Involved in the Stereociliary Coat, Causes Autosomal Recessive Nonsyndromic Hearing Loss<\/b><\/a>
\nRedfield SE, De-la-Torre P, Zamani M, Khan H, Morris T, Shariati G, Karimi M, Kenna MA, Seo GH, Naz S, Galehdari H, Indzhykulian AA, Shearer AE, Vona B
\nmedRxiv [Preprint]<\/em> 2023 Oct 9:2023.10.08.23296081. doi: 10.1101\/2023.10.08.23296081.<\/p>\n

Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders<\/b><\/a>
\nSaadi SM, Cali E, Khalid LB, Yousaf H, Zafar G, Khan HN, Sher M, Vona B, Abdullah U, Malik NA, Klar J, Efthymiou S, Dahl N, Houlden H, Toft M, Baig SM, Fatima A, Iqbal Z
\nGenes (Basel).<\/em> 2023 Jul 6;14(7):1404. doi: 10.3390\/genes14071404.<\/p>\n

Prognostic factor identification by screening changes in differentially expressed genes in oral squamous cell carcinoma<\/b>
\n<\/a>Schminke B, Shomroni O, Salinas G, Bremmer F, Kauffmann P, Schliephake H, Oyelami F, Rahat MA, Brockmeyer P
\nOral Dis<\/em> 2023 Jan;29(1):116-127. doi: 10.1111\/odi.13879. Epub 2021 May 5.<\/p>\n

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly<\/b>
\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
\nHum Genet<\/em> 2023 Mar 21. doi: 10.1007\/s00439-023-02528-2. Epub ahead of print.<\/p>\n

Single-cell transcriptomics reveal extracellular vesicles secretion with a cardiomyocyte proteostasis signature during pathological remodeling<\/b>
\n<\/a>Schoger E, Bleckwedel F, Germena G, Rocha C, Tucholla P, Sobitov I, M\u00f6bius W, Sitte M, Lenz C, Samak M, Hinkel R, Varga ZV, Giricz Z, Salinas G, Gross JC, Zelaray\u00e1n LC
\nCommun Biol<\/em> 2023 Jan 21;6(1):79. doi: 10.1038\/s42003-022-04402-9.<\/p>\n

The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued<\/b>
\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
\nOrphanet J Rare Dis<\/em> 2023 May 2;18(1):101. doi: 10.1186\/s13023-023-02706-5.<\/p>\n

The challenges of research data management in cardiovascular science: a DGK and DZHK position paper-executive summary<\/b>
\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
\nClin Res Cardiol<\/em> 2023 Oct 17. doi: 10.1007\/s00392-023-02303-3. Epub ahead of print.<\/p>\n

AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia<\/b>
\n<\/a>Terhal P, Venhuizen AJ, Lessel D, Tan WH, Alswaid A, Gr\u00fcn R, Alzaidan HI, von Kroge S, Ragab N, Hempel M, Kubisch C, Novais E, Cristobal A, Tripolszki K, Bauer P, Fischer-Zirnsak B, Nievelstein RAJ, van Dijk A, Nikkels P, Oheim R, Hahn H, Bertoli-Avella A, Maurice MM, Kornak U
\nAm J Hum Genet<\/em> 2023 Aug 9:S0002-9297(23)00251-3. doi: 10.1016\/j.ajhg.2023.07.011. Epub ahead of print.<\/p>\n

An encounter with the mild side of LARS2-associated Perrault syndrome and its implications on the diagnostic odyssey<\/b><\/a>
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\nEur J Hum Genet<\/em> 2023 [Online ahead of print]. doi: 10.1038\/s41431-023-01285-0.<\/p>\n

Unraveling haplotype errors in the DFNA33 locus<\/b><\/a>
\nVona B, Regele S, Rad A, Strenzke N, Pater JA, Neumann K, Sturm M, Haack TB, Am Zehnhoff-Dinnesen AG
\nFront Genet<\/em> 2023 Aug 21;14:1214736. doi: 10.3389\/fgene.2023.1214736.<\/p>\n

Blood T Helper Memory Cells: A Tool for Studying Skin Inflammation in HS?<\/b>
\n<\/a>Witte K, Schneider-Burrus S, Salinas G, M\u00f6ssner R, Ghoreschi K, Wolk K, Sabat R
\nInt J Mol Sci<\/em> 2023 May 16;24(10):8854. doi: 10.3390\/ijms24108854.<\/p>\n

FGFR1 variants contributed to families with tooth agenesis<\/b><\/a>
\nYao S, Zhou X, Gu M, Zhang C, Bartsch O, Vona B, Fan L, Ma L, Pan Y
\nHum Genomics<\/em> 2023 Oct 13;17(1):93. doi: 10.1186\/s40246-023-00539-8.<\/p>\n

N4-hydroxycytidine, the active compound of Molnupiravir, promotes SARS-CoV-2 mutagenesis and escape from a neutralizing nanobody<\/b>
\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
\niScience<\/em> 2023 Aug 30;26(10):107786. doi: 10.1016\/j.isci.2023.107786.[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][\/vc_column][\/mk_page_section][mk_page_section min_height=”0″ padding_top=”0″ padding_bottom=”0″ section_id=”anker-1″ sidebar=”sidebar-1″][vc_column][mk_padding_divider size=”120″][\/vc_column][\/mk_page_section][mk_page_section section_id=”2022″ sidebar=”sidebar-1″][vc_column][vc_row_inner][vc_column_inner][vc_column_text el_class=”titlebox forschung-02″ css=”.vc_custom_1644414455042{margin-bottom: 0px !important;}”]\n

2022<\/h2>\n[\/vc_column_text][mk_padding_divider size=”25″ visibility=”visible-sm”][mk_padding_divider visibility=”hidden-sm”][vc_column_text el_class=”padding25lr publikationen” css=”.vc_custom_1677156157342{margin-bottom: 0px !important;}”]Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the Guanine Exchange Domain<\/b>
\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
\nClin Genet. <\/em> 2022 Dec 28. doi: 10.1111\/cge.14290. Epub ahead of print.<\/p>\n

WARS1 and SARS1: two tRNA synthetases implicated in autosomal recessive microcephaly<\/b>
\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
\nHum Mutat.<\/em> 2022 Oct;43(10):1454-1471. doi: 10.1002\/humu.24430. Epub 2022 Jul 21.<\/p>\n

Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis<\/b>
\n<\/a>Boschann F, Cogulu M\u00d6, Pehlivan D, Balachandran S, Vallecillo-Garcia P, Grochowski CM, Hansmeier NR, Coban Akdemir ZH, Prada-Medina CA, Aykut A, Fischer-Zirnsak B, Badura S, Durmaz B, Ozkinay F, H\u00e4gerling R, Posey JE, Stricker S, Gillessen-Kaesbach G, Spielmann M, Horn D, Brockmann K, Lupski JR, Kornak U, Schmidt J
\nGenet Med.<\/em> 2022 Oct;24(10):2187-2193. doi: 10.1016\/j.gim.2022.07.012. Epub 2022 Aug 13.<\/p>\n

Dissecting the influence of cellular senescence on cell mechanics and extracellular matrix formation in vitro<\/b>
\n<\/a>Brauer E, Lange T, Keller D, G\u00f6rlitz S, Cho S, Keye J, Gossen M, Petersen A, Kornak U
\nAging Cell<\/em> 2022 Dec 13:e13744. doi: 10.1111\/acel.13744. Epub ahead of print.<\/p>\n

Early-onset osteoporosis: Rare monogenic forms elucidate the complexity of disease pathogenesis beyond type I collagen<\/b>
\n<\/a>Costantini A, M\u00e4kitie RE, Hartmann MA, Fratzl-Zelman N, Zillikens MC, Kornak U, S\u00f8e K, M\u00e4kitie O
\nJ Bone Miner Res.<\/em> 2022 Sep;37(9):1623-1641. doi: 10.1002\/jbmr.4668. Epub 2022 Sep 11.<\/p>\n

Regenerative potential of epicardium-derived extracellular vesicles mediated by conserved miRNA transfer<\/b>
\n<\/a>Del Campo CV, Liaw NY, Gunadasa-Rohling M, Matthaei M, Braga L, Kennedy T, Salinas G, Voigt N, Giacca M, Zimmermann WH, Riley PR
\nCardiovasc Res<\/em> 2022 Jan 29;118(2):597-611. doi: 10.1093\/cvr\/cvab054.<\/p>\n

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry<\/b>
\n<\/a>Dumont M, Weber-Lassalle N, Joly-Beauparlant C, Ernst C, Droit A, Feng BJ, Dubois S, Collin-Deschesnes AC, Soucy P, Vall\u00e9e M, Fournier F, Lema\u00e7on A, Adank MA, Allen J, Altm\u00fcller J, Arnold N, Ausems MGEM, Berutti R, Bolla MK, Bull S, Carvalho S, Cornelissen S, Dufault MR, Dunning AM, Engel C, Gehrig A, Geurts-Giele WRR, Gieger C, Green J, Hackmann K, Helmy M, Hentschel J, Hogervorst FBL, Hollestelle A, Hooning MJ, Horv\u00e1th J, Ikram MA, Kaulfu\u00df S, Keeman R, Kuang D, Luccarini C, Maier W, Martens JWM, Niederacher D, N\u00fcrnberg P, Ott CE, Peters A, Pharoah PDP, Ramirez A, Ramser J, Riedel-Heller S, Schmidt G, Shah M, Scherer M, St\u00e4bler A, Strom TM, Sutter C, Thiele H, van Asperen CJ, van der Kolk L, van der Luijt RB, Volk AE, Wagner M, Waisfisz Q, Wang Q, Wang-Gohrke S, Weber BHF, Genome Of The Netherlands Project, Ghs Study Group, Devilee P, Tavtigian S, Bader GD, Meindl A, Goldgar DE, Andrulis IL, Schmutzler RK, Easton DF, Schmidt MK, Hahnen E, Simard J
\nCancers (Basel)<\/em> 2022 Jul 11;14(14):3363. doi: 10.3390\/cancers14143363.<\/p>\n

Gene-expression profiles of pretreatment biopsies predict complete response of rectal cancer patients to preoperative chemoradiotherapy<\/b>
\n<\/a>Emons G, Auslander N, Jo P, Kitz J, Azizian A, Hu Y, Hess CF, Roedel C, Sax U, Salinas G, Stroebel P, Kramer F, Beissbarth T, Grade M, Ghadimi M, Ruppin E, Ried T, Gaedcke J
\nBr J Cancer<\/em> 2022 Sep;127(4):766-775. doi: 10.1038\/s41416-022-01842-2. Epub 2022 May 21<\/p>\n

Heat shock protein A4 ablation leads to skeletal muscle myopathy associated with dysregulated autophagy and induced apoptosis<\/b>
\n<\/a>Elkenani M, Barakat AZ, Held T, Rodrigues DM, Mobarak S, Swarnka S, Adham IM, Mohamed BA
\nJ Transl Med.<\/em> 2022 May 14;20(1):229. doi: 10.1186\/s12967-022-03418-3.<\/p>\n

Transcriptomic profiling of clobetasol propionate-induced immunosuppression in challenged zebrafish embryos<\/b>
\n<\/a>Essfeld F, Reinwald H, Salinas G, Sch\u00e4fers C, Eilebrecht E, Eilebrecht S
\nEcotoxicol Environ Saf<\/em> 2022 Mar 15;233:113346. doi: 10.1016\/j.ecoenv.2022.113346. Epub 2022 Feb 25.<\/p>\n

IGF-1 Gene Transfer Modifies Inflammatory Environment and Gene Expression in the Caudate-Putamen of Aged Female Rat Brain<\/b>
\n<\/a>Falomir-Lockhart E, Dolcetti FJC, Herrera ML, Pennini J, Zappa Villar MF, Salinas G, Portiansky E, Spittau B, Lacunza E, Here\u00f1\u00fa CB, Bellini MJ
\nMol Neurobiol<\/em> 2022 Jun;59(6):3337-3352. doi: 10.1007\/s12035-022-02791-w. Epub 2022 Mar 19.<\/p>\n

Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome <\/b><\/a>
\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.
\n Clin Genet <\/em> 2022 May;101(5-6):559-564. doi: 10.1111\/cge.14125. Epub 2022 Mar 11.<\/p>\n

Single-cell transcription profiles in Bloom syndrome patients link BLM deficiency with altered condensin complex expression signatures<\/b>
\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.
\nHum Mol Genet.<\/em> 2022 Jul 7;31(13):2185-2193. doi: 10.1093\/hmg\/ddab373.<\/p>\n

HNF1B Alters an Evolutionarily Conserved Nephrogenic Program of Target Genes<\/b>
\n<\/a>Grand K, Stoltz M, Rizzo L, R\u00f6ck R, Kaminski M, Salinas G, Getwan M, Naert T, Pichler R, Lienkamp S
\nJ Am Soc Nephrol.<\/em> 2022 Dec 15:ASN.2022010076. doi: 10.1681\/ASN.2022010076. Epub ahead of print.<\/p>\n

Comparative multi-tissue profiling reveals extensive tissue-specificity in transcriptome reprogramming during thermal adaptation<\/b>
\n<\/a>Hadadi N, Spiljar M, Steinbach K, \u00c7olako\u011flu M, Chevalier C, Salinas G, Merkler D, Trajkovski M
\nElife<\/em> 2022 May 17;11:e78556. doi: 10.7554\/eLife.78556.<\/p>\n

Detailed phenotypic and functional characterization of CMV-associated adaptive NK cells in rhesus macaques<\/b>
\n<\/a>Hasan MZ, H\u00f6ltermann C, Petersen B, Schrod A, M\u00e4tz-Rensing K, Kaul A, Salinas G, Dressel R, Walter L
\nFront Immunol.<\/em> 2022 Nov 25;13:1028788. doi: 10.3389\/fimmu.2022.1028788.<\/p>\n

Doxorubicin induces cardiotoxicity in a pluripotent stem cell model of aggressive B cell lymphoma cancer patients<\/b>
\n<\/a>Haupt LP, Rebs S, Maurer W, H\u00fcbscher D, Tiburcy M, Pabel S, Maus A, K\u00f6hne S, Tappu R, Haas J, Li Y, Sasse A, Santos CCX, Dressel R, Wojnowski L, Bunt G, M\u00f6bius W, Shah AM, Meder B, Wollnik B, Sossalla S, Hasenfuss G, Streckfuss-B\u00f6meke K
\nBasic Res Cardiol<\/em> 2022 Mar 8;117(1):13. doi: 10.1007\/s00395-022-00918-7.<\/p>\n

The HIF\u03b1-Stabilizing Drug Roxadustat Increases the Number of Renal Epo-Producing Sca-1+ Cells <\/b>
\n<\/a>Jatho A, Zieseniss A, Brechtel-Curth K, Guo J, B\u00f6ker KO, Salinas G, Wenger RH, Katschinski DM
\nCells.<\/em> 2022 Feb 21;11(4):753. doi: 10.3390\/cells11040753.<\/p>\n

GGPS1-associated muscular dystrophy with and without hearing loss<\/b><\/a>
\nKaiyrzhanov R, Perry L, Rocca C, Zaki MS, Hosny H, Araujo Martins Moreno C, Phadke R, Zaharieva I, Camelo Gontijo C, Beetz C, Pini V, Movahedinia M, Zanoteli E, DiTroia S, Vuillaumier-Barrot S, Isapof A, Mehrjardi MYV, Ghasemi N, Sarkozy A, Muntoni F, Whalen S, Vona B, Houlden H, Maroofian R.
\nAnn Clin Transl Neurol.<\/em> 2022 Sep;9(9):1465-1474. doi: 10.1002\/acn3.51633. Epub 2022 Jul 23.<\/p>\n

Evaluation of growth, puberty, osteoporosis, and the response to long-term bisphosphonate therapy in four patients with osteoporosis-pseudoglioma syndrome<\/b><\/a>
\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
\nAm J Med Genet A<\/em> 2022 Jul;188(7):2061-2070. doi: 10.1002\/ajmg.a.62742. Epub 2022 Apr 8.<\/p>\n

Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features<\/b>
\n<\/a>Kornak U, Saha N, Keren B, Neumann A, Taylor Tavares AL, Piard J, Kopp J, Rodrigues Alves JG, Rodr\u00edguez de Los Santos M, El Choubassi N, Ehmke N, J\u00e4ger M, Spielmann M, Pantel JT, Lejeune E, Fauler B, Mielke T, Hecht J, Meierhofer D, Strom TM, Laugel V, Brice A, Mundlos S, Bertoli-Avella A, Bauer P, Heyd F, Boute O, Dupont J, Depienne C, Van Maldergem L, Fischer-Zirnsak B
\nGenet Med.<\/em> 2022 Sep;24(9):1927-1940. doi: 10.1016\/j.gim.2022.05.004. Epub 2022 Jun 7.<\/p>\n

Heat stress leads to rapid lipid remodeling and transcriptional adaptations in Nicotiana tabacum pollen tubes<\/b>
\n<\/a>Krawczyk HE, Rotsch AH, Herrfurth C, Scholz P, Shomroni O, Salinas-Riester G, Feussner I, Ischebeck T
\nPlant Physiol<\/em> 2022 Jun 1;189(2):490-515. doi: 10.1093\/plphys\/kiac127.<\/p>\n

Prdm12 modulates pain-related behavior by remodeling gene expression in mature nociceptors<\/b>
\n<\/a>Latragna A, Sabat\u00e9 San Jos\u00e9 A, Tsimpos P, Vermeiren S, Gualdani R, Chakrabarti S, Callejo G, Desiderio S, Shomroni O, Sitte M, Kricha S, Luypaert M, Vanhollebeke B, Laumet G, Salinas G, Smith ESJ, Ris L, Bellefroid EJ
\nPain<\/em> 2022 Aug 1;163(8):e927-e941. doi: 10.1097\/j.pain.0000000000002536. Epub 2021 Dec 24.<\/p>\n

Calcium bursts allow rapid reorganization of EFhD2\/Swip-1 cross-linked actin networks in epithelial wound closure<\/b>
\n<\/a>Lehne F, Pokrant T, Parbin S, Salinas G, Gro\u00dfhans J, Rust K, Faix J, Bogdan S
\nNat Commun<\/em> 2022 May 6;13(1):2492. doi: 10.1038\/s41467-022-30167-0.<\/p>\n

Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function<\/b><\/a>
\nLin SJ, Vona B, Porter HM, Izadi M, Huang K, Lacassie Y, Rosenfeld JA, Khan S, Petree C, Ali TA, Muhammad N, Khan SA, Muhammad N, Liu P, Haymon ML, R\u00fcschendorf F, Kong IK, Schnapp L, Shur N, Chorich L, Layman L, Haaf T, Pourkarimi E, Kim HG, Varshney GK.
\nHum Mutat.<\/em> 2022 Oct;43(10):1472-1489. doi: 10.1002\/humu.24435. Epub 2022 Jul 21.<\/p>\n

Generation of homozygous Nav1.8 knock-out iPSC lines by CRISPR Cas9 genome editing to investigate a potential new antiarrhythmic strategy<\/b><\/a>
\nMaurer W, Hartmann N, Argyriou L, Sossalla S, Streckfuss-B\u00f6meke K
\nStem Cell Res.<\/em> 2022 Apr;60:102677. doi: 10.1016\/j.scr.2022.102677. Epub 2022 Jan 19.<\/p>\n

Short-Term Test for Toxicogenomic Analysis of Ecotoxic Modes of Action in Lemna minor<\/b>
\n<\/a>Loll A, Reinwald H, Ayobahan SU, G\u00f6ckener B, Salinas G, Sch\u00e4fers C, Schlich K, Hamscher G, Eilebrecht S
\nEnviron Sci Technol<\/em> 2022 Aug 16;56(16):11504-11515. doi: 10.1021\/acs.est.2c01777. Epub 2022 Aug 4.<\/p>\n

ClearCNV: CNV calling from NGS panel data in the presence of ambiguity and noise<\/b>
\n<\/a>May V, Koch L, Fischer-Zirnsak B, Horn D, Gehle P, Kornak U, Beule D, Holtgrewe M
\nBioinformatics<\/em>. 2022 Jun 25:btac418. doi: 10.1093\/bioinformatics\/btac418. Epub ahead of print<\/p>\n

Evidence of Two Novel LAMA2 Variants in a Patient With Muscular Dystrophy: Facing the Challenges of a Certain Diagnosis<\/b><\/a>
\nMeyer S, Kaulfu\u00df S, Zechel S, Kummer K, Seif Amir Hosseini A, Ernst MS, Schmidt J, Pauli S, Zsch\u00fcntzsch J
\nFront Neurol.<\/em> 2022 Jul 19;13:893605. doi: 10.3389\/fneur.2022.893605.<\/p>\n

Small and long RNA transcriptome of whole human cerebrospinal fluid and serum as compared to their extracellular vesicle fractions reveal profound differences in expression patterns and impacts on biological processes<\/b>
\n<\/a>Michel U, Shomroni O, M\u00fcller B, Lange P, Salinas G, B\u00e4hr M, Koch JC
\nJ Transl Med<\/em> 2022 Sep 8;20(1):413. doi: 10.1186\/s12967-022-03612-3.<\/p>\n

RNF43 pathogenic Germline variant in a family with colorectal cancer<\/b>
\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.
\nClin Genet.<\/em> 2022 Jan;101(1):122-126. doi: 10.1111\/cge.14064. Epub 2021 Sep 27.<\/p>\n

Survey of germline variants in cancer-associated genes in young adults with colorectal cancer<\/b>
\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
\nGenes Chromosomes Cancer.<\/em> 2022 Feb;61(2):105-113. doi: 10.1002\/gcc.23011. Epub 2021 Nov 18.<\/p>\n

Genomic basis of syndromic short stature in an Algerian patient cohort<\/b>
\n<\/a>Moosa S, Chentli F, Altm\u00fcller J, B\u00f6gershausen N, N\u00fcrnberg P, Yigit G, Li Y, Wollnik B
\nAm J Med Genet A.<\/em> 2022 Feb;188(2):606-612. doi: 10.1002\/ajmg.a.62532. Epub 2021 Oct 13.<\/p>\n

Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders<\/b>
\n<\/a>Oheim R, Tsourdi E, Seefried L, Beller G, Schubach M, Vettorazzi E, St\u00fcrznickel J, Rolvien T, Ehmke N, Delsmann A, Genest F, Kr\u00fcger U, Zemojtel T, Barvencik F, Schinke T, Jakob F, Hofbauer LC, Mundlos S, Kornak U
\nJ Clin Endocrinol Metab<\/em> 2022 Jun 16;107(7):e3048-e3057. doi: 10.1210\/clinem\/dgac147.<\/p>\n

Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene<\/b><\/a>
\nPater JA, Penney C, O’Rielly DD, Griffin A, Kamal L, Brownstein Z, Vona B, Vinkler C, Shohat M, Barel O, French CR, Singh S, Werdyani S, Burt T, Abdelfatah N, Houston J, Doucette LP, Squires J, Glaser F, Roslin NM, Vincent D, Marquis P, Woodland G, Benoukraf T, Hawkey-Noble A, Avraham KB, Stanton SG, Young TL.
\nHum Genet.<\/em> 2022 Apr;141(3-4):431-444. doi: 10.1007\/s00439-022-02444-x.<\/p>\n

Tumor suppressive functions of WNT5A in rhabdomyosarcoma<\/b><\/a>
\nRagab N, Bauer J, Uhmann A, Marx A, Hahn H, Simon-Keller K
\nInt J Oncol.<\/em> 2022 Sep;61(3):102. doi: 10.3892\/ijo.2022.5392. Epub 2022 Jul 7.<\/p>\n

Toxicogenomic profiling after sublethal exposure to nerve- and muscle-targeting insecticides reveals cardiac and neuronal developmental effects in zebrafish embryos<\/b><\/a>
\nReinwald H, Alvincz J, Salinas G, Sch\u00e4fers C, Hollert H, Eilebrecht S
\nChemosphere.<\/em> 2022 Mar;291(Pt 1):132746. doi: 10.1016\/j.chemosphere.2021.132746. Epub 2021 Nov 5.<\/p>\n

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome<\/b><\/a>
\nRad A, Najafi M, Suri F, Abedini S, Loum S, Karimiani EG, Daftarian N, Murphy D, Doosti M, Moghaddasi A, Ahmadieh H, Sabbaghi H, Rajati M, Hashemi N, Vona B, Schmidts M.
\nOrphanet J Rare Dis. <\/em>2022 Mar 3;17(1):97. doi: 10.1186\/s13023-022-02244-6.<\/p>\n

Neutrophilic granulocyte-derived B-cell activating factor supports B cells in skin lesions in hidradenitis suppurativa<\/b>
\n<\/a>Sabat R, \u0160imait\u0117 D, Gudjonsson JE, Brembach TC, Witte K, Krause T, Kokolakis G, Bartnik E, Nikolaou C, Rill N, Coulibaly B, Levin C, Herrmann M, Salinas G, Leeuw T, Volk HD, Ghoreschi K, Wolk K
\nJ Allergy Clin Immunol<\/em> 2022 Dec 5:S0091-6749(22)01621-9. doi: 10.1016\/j.jaci.2022.10.034. Online ahead of print.<\/p>\n

Somatic mosaicism in STAG2<\/em>-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum<\/b>
\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
\nFront. Cell Dev. Biol.<\/em> 2022 Nov 16;10:1025332. doi: 10.3389\/fcell.2022.1025332.<\/p>\n

Progressive frontal intraosseous lipoma: Detection of the mosaic AKT1 variant discloses Proteus syndrome<\/b>
\n<\/a>Schmidt J, Bremmer F, Brockmann K, Kaulfu\u00df S, Wollnik B
\nClin Genet. <\/em>2022 Jun 7. doi: 10.1111\/cge.14174. Epub ahead of print.<\/p>\n

Familial cleft tongue caused by a unique translation initiation codon variant in TP63<\/b>
\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
\nEur J Hum Genet.<\/em> 2022 Feb;30(2):211-218. doi: 10.1038\/s41431-021-00967-x. Epub 2021 Oct 11.<\/p>\n

Engineered skeletal muscle recapitulates human muscle development, regeneration and dystrophy<\/b>
\n<\/a>Shahriyari M, Islam MR, Sakib SM, Rinn M, Rika A, Kr\u00fcger D, Kaurani L, Gisa V, Winterhoff M, Anandakumar H, Shomroni O, Schmidt M, Salinas G, Unger A, Linke WA, Zsch\u00fcntzsch J, Schmidt J, Bassel-Duby R, Olson EN, Fischer A, Zimmermann WH, Tiburcy M
\nJ Cachexia Sarcopenia Muscle<\/em> 2022 Dec;13(6):3106-3121. doi: 10.1002\/jcsm.13094. Epub 2022 Oct 18.<\/p>\n

A novel single-cell RNA-sequencing approach and its applicability connecting genotype to phenotype in ageing disease <\/b>
\n<\/a> Shomroni O, Sitte M, Schmidt J, Parbin S, Ludewig F, Yigit G, Zelarayan LC, Streckfuss-B\u00f6meke K, Wollnik B, Salinas G
\n Sci Rep.<\/em> 2022 Mar 8;12(1):4091. doi: 10.1038\/s41598-022-07874-1.<\/p>\n

CLCN7, a gene shared by autosomal recessive and autosomal dominant osteopetrosis<\/b>
\n<\/a>Stauber T, Wartosch L, Vishnolia S, Schulz A, Kornak U
\nBone.<\/em> 2022 Dec 10:116639. doi: 10.1016\/j.bone.2022.116639. Epub ahead of print.<\/p>\n

Clinical spectrum of Hereditary Hypophosphatemic rickets with Hypercalciuria (HHRH)<\/b>
\n<\/a>St\u00fcrznickel J, Heider F, Delsmann A, G\u00f6del M, Gr\u00fcnhagen J, Huber TB, Kornak U, Amling M, Oheim R
\nJ Bone Miner Res.<\/em> 2022 Aug;37(8):1580-1591. doi: 10.1002\/jbmr.4630. Epub 2022 Jul 8.<\/p>\n

Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss<\/b><\/a>
\nTrpchevska N, Freidin MB, Broer L, Oosterloo BC, Yao S, Zhou Y, Vona B, Bishop C, Bizaki-Vallaskangas A, Canlon B, Castellana F, Chasman DI, Cherny S, Christensen K, Concas MP, Correa A, Elkon R; Estonian Biobank Research Team, Mengel-From J, Gao Y, Giersch ABS, Girotto G, Gudjonsson A, Gudnason V, Heard-Costa NL, Hertzano R, Hjelmborg JVB, Hjerling-Leffler J, Hoffman HJ, Kaprio J, Kettunen J, Krebs K, K\u00e4hler AK, Lallemend F, Launer LJ, Lee IM, Leonard H, Li CM, Lowenheim H, Magnusson PKE, van Meurs J, Milani L, Morton CC, M\u00e4kitie A, Nalls MA, Nardone GG, Nygaard M, Palviainen T, Pratt S, Quaranta N, R\u00e4m\u00f6 J, Saarentaus E, Sardone R, Satizabal Barrera CL, Schweinfurth JM, Seshadri S, Shiroma E, Shulman E, Simonsick E, Spankovich C, Tropitzsch A, Lauschke VM, Sullivan PF, Goedegebure A, Cederroth CR, Williams FMK, Nagtegaal AP.
\nAm J Hum Genet.<\/em> 2022 Jun 2;109(6):1077-1091. doi: 10.1016\/j.ajhg.2022.04.010. Epub 2022 May 16.<\/p>\n

TP53-Status-Dependent Oncogenic EZH2 Activity in Pancreatic Cancer<\/b>
\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
\nCancers (Basel)<\/em> 2022 Jul 15;14(14):3451. doi: 10.3390\/cancers14143451.<\/p>\n

Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive<\/b>
\n<\/a>Vogt G, Verheyen S, Schwartzmann S, Ehmke N, Potratz C, Schwerin-Nagel A, Plecko B, Holtgrewe M, Seelow D, Blatterer J, Speicher MR, Kornak U, Horn D, Mundlos S, Fischer-Zirnsak B, Boschann F
\nJ Med Genet<\/em> 2022 Jul;59(7):662-668. doi: 10.1136\/jmedgenet-2021-107843. Epub 2021 Jun 18.<\/p>\n

Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss<\/b><\/a>
\nVona B, Schwartzbaum DA, Rodriguez AA, Lewis SS, Toosi MB, Radhakrishnan P, Bozan N, Ak\u0131n R, Doosti M, Manju R, Duman D, Sineni CJ, Nampoothiri S, Karimiani EG, Houlden H, Bademci G, Tekin M, Girisha KM, Maroofian R, Douzgou S.
\nJ Eur Acad Dermatol Venereol.<\/em> 2022 Sep;36(9):1606-1611. doi: 10.1111\/jdv.18207. Epub 2022 May 25.<\/p>\n

Whole genome sequencing for newborns \u2013The devil is in the details.<\/b><\/a>
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\nClin Transl Med.<\/em> 2022 Jul 7. doi: 10.1002\/ctd2.102. Online ahead of print,<\/p>\n

The Road Traveled and Journey Ahead for the Genetics and Genomics of Tinnitus<\/b><\/a>
\nVona B.
\nMol Diagn Ther. <\/em>2022 Mar;26(2):129-136. doi: 10.1007\/s40291-022-00578-2.<\/p>\n

Deletion of the last two exons of FGF10 in a family with LADD syndrome and pulmonary acinar hypoplasia<\/b><\/a>
\nWade EM, Parthasarathy P, Mi J, Morgan T, Wollnik B, Robertson SP, Cundy T
\nEur J Hum Genet<\/em> 2022 Apr;30(4):480-484. doi: 10.1038\/s41431-021-00902-0. Epub 2021 May 9.<\/p>\n

Is there an unmet medical need for improved hearing restoration?<\/b><\/a>
\nWolf BJ, Kusch K, Hunniford V, Vona B, K\u00fchler R, Keppeler D, Strenzke N, Moser T.
\nEMBO Mol Med. <\/em>2022 Jul 14:e15798. doi: 10.15252\/emmm.202215798. Online ahead of print.<\/p>\n

Skeletal Class III Malocclusion Is Associated with ADAMTS2 Variants and Reduced Expression in a Familial Case<\/b><\/a>
\nYao S, Zhou X, Vona B, Fan L, Zhang C, Li D, Yuan H, Du Y, Ma L, Pan Y
\nInt J Mol Sci<\/em> 2022 Sep 14;23(18):10673. doi: 10.3390\/ijms231810673.<\/p>\n

Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state<\/b><\/a>
\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
\nJ Med Genet<\/em> 2022 Jun;59(6):549-553. doi: 10.1136\/jmedgenet-2021-107769. Epub 2021 Jun 25.[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][\/vc_column][\/mk_page_section][mk_page_section min_height=”0″ padding_top=”0″ padding_bottom=”0″ section_id=”anker-1″ sidebar=”sidebar-1″][vc_column][mk_padding_divider size=”120″][\/vc_column][\/mk_page_section][mk_page_section section_id=”2021″ sidebar=”sidebar-1″][vc_column][vc_row_inner][vc_column_inner][vc_column_text el_class=”titlebox forschung-02″ css=”.vc_custom_1626943665156{margin-bottom: 0px !important;}”]\n

2021<\/h2>\n[\/vc_column_text][mk_padding_divider size=”25″ visibility=”visible-sm”][mk_padding_divider visibility=”hidden-sm”][vc_column_text el_class=”padding25lr publikationen” css=”.vc_custom_1677154609604{margin-bottom: 0px !important;}”]CRISPR-Cas9-Edited Tacrolimus-Resistant Antiviral T Cells for Advanced Adoptive Immunotherapy in Transplant Recipients<\/b>
\n<\/a>Amini L, Wagner DL, R\u00f6ssler U, Zarrinrad G, Wagner LF, Vollmer T, Wendering DJ, Kornak U, Volk HD, Reinke P, Schmueck-Henneresse M
\nMol Ther.<\/em> 2021 Jan 6;29(1):32-46. doi: 10.1016\/j.ymthe.2020.09.011.<\/p>\n

Context-dependent modulation of aggressiveness of pediatric tumors by individual oncogenic RAS isoforms<\/b>
\n<\/a>Bauer J, Cuvelier N, Ragab N, Simon-Keller K, Nitzki F, Geyer N, Botermann DS, Elmer DP, Rosenberger A, Rando TA, Biressi S, Fagin JA, Saur D, Dullin C, Schildhaus HU, Schulz-Schaeffer W, Aberger F, Uhmann A, Hahn H
\nOncogene<\/em>. 2021 Aug;40(31):4955-4966. doi: 10.1038\/s41388-021-01904-4.<\/p>\n

Transcriptome Analysis of Hypoxic Lymphatic Endothelial Cells Indicates Their Potential to Contribute to Extracellular Matrix Rearrangement<\/b>
\n<\/a>Becker J, Schwoch S, Zelent C, Sitte M, Salinas G, Wilting J
\nCells<\/em>. 2021 Apr 24;10(5).<\/p>\n

Hedgehog signaling in endocrine and folliculo-stellate cells of the adult pituitary<\/b><\/a>
\nBotermann DS, Brandes N, Frommhold A, He\u00df I, Wolff A, Zibat A, Hahn H, Buslei R, Uhmann A
\nJ Endocrinol.<\/em> 2021 Mar;248(3):303-316. doi: 10.1530\/JOE-20-0388<\/p>\n

Relevant genetic variants are common in women with pregnancy and lactation-associated osteoporosis (PLO) and predispose to more severe clinical manifestations<\/b>
\n<\/a>Butscheidt S, Tsourdi E, Rolvien T, Delsmann A, St\u00fcrznickel J, Barvencik F, Jakob F, Hofbauer LC, Mundlos S, Kornak U, Seefried L, Oheim R.
\nBone<\/em>. 2021 Mar 12;147:115911. doi: 10.1016\/j.bone.2021.115911. Epub ahead of print.<\/p>\n

Protein Signatures of NK Cell-Mediated Melanoma Killing Predict Response to Immunotherapies<\/b>
\n<\/a>Cappello S, Sung HM, Ickes C, Gibhardt CS, Vultur A, Bhat H, Hu Z, Brafford P, Denger A, Stejerean-Todoran I, K\u00f6hn RM, Lorenz V, K\u00fcnzel N, Salinas G, Stanisz H, Legler T, Rehling P, Sch\u00f6n MP, Lang KS, Helms V, Herlyn M, Hoth M, Kummerow C, Bogeski I
\nCancer Res<\/em> 2021 Nov 1;81(21):5540-5554. doi: 10.1158\/0008-5472.CAN-21-0164. Epub 2021 Sep 13.<\/p>\n

Investigations on the Degradation of the Bile Salt Cholate via the 9,10-Seco-Pathway Reveals the Formation of a Novel Recalcitrant Steroid Compound by a Side Reaction in Sphingobium sp. Strain Chol11<\/b>
\n<\/a>Feller FM, Eilebrecht S, Nedielkov R, Y\u00fccel O, Alvincz J, Salinas G, Ludwig KC, M\u00f6ller H, Philipp B
\nMicroorganisms<\/em> 2021 Oct 14;9(10):2146. doi: 10.3390\/microorganisms9102146.<\/p>\n

The detection of isochromosome i(12p) in malignant germ cell tumours and tumours with somatic malignant transformation by the use of quantitative real-time polymerase chain reaction<\/b>
\n<\/a>Fichtner A, Richter A, Filmar S, Gaisa NT, Schweyer S, Reis H, Nettersheim D, Oing C, Gayer FA, Leha A, K\u00fcffer S, Str\u00f6bel P, Kaulfu\u00df S, Bremmer F
\nHistopathology<\/em>. 2021 Mar;78(4):593-606. doi: 10.1111\/his.14258.<\/p>\n

Screening for potential targets to reduce stenosis in bioprosthetic heart valves<\/b>
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\nSci Rep.<\/em> 2021 Jan 28;11(1):2464. doi: 10.1038\/s41598-021-81340-2.<\/p>\n

Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study<\/b>
\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.
\nAm J Med Genet A<\/em>. 2021 Jan 11. doi: 10.1002\/ajmg.a.62070. Epub ahead of print.<\/p>\n

Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) due to ENPP1-deficiency<\/b>
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\nBone<\/em>. 2021 Jul 9;153:116111. doi: 10.1016\/j.bone.2021.116111. Epub ahead of print.<\/p>\n

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies<\/b>
\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
\nGenet Med.<\/em> 2021 Jul 9. doi: 10.1038\/s41436-021-01260-4. Epub ahead of print.<\/p>\n

Mechanochemical control of epidermal stem cell divisions by B-plexins<\/b><\/a>
\nJiang C, Javed A, Kaiser L, Nava MM, Xu R, Brandt DT, Zhao D, Mayer B, Fern\u00e1ndez-Baldovinos J, Zhou L, H\u00f6\u00df C, Sawmynaden K, Oleksy A, Matthews D, Weinstein LS, Hahn H, Gr\u00f6ne HJ, Graumann PL, Niessen CM, Offermanns S, Wickstr\u00f6m SA, Worzfeld T
\nNat Commun. <\/em>2021 Feb 26;12(1):1308. doi: 10.1038\/s41467-021-21513-9.<\/p>\n

Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology<\/b>
\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.
\nNat Commun<\/em>. 2021 May 21;12(1):3014. doi: 10.1038\/s41467-021-23327-1<\/p>\n

MFSD2A-associated primary microcephaly – Expanding the clinical and mutational spectrum of this ultra-rare disease<\/b>
\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
\nEur J Med Genet<\/em> 2021 Aug 13:104310. doi: 10.1016\/j.ejmg.2021.104310. Epub ahead of print.<\/p>\n

Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus<\/b>
\n<\/a>Melo US, Piard J, Fischer-Zirnsak B, Klever MK, Sch\u00f6pflin R, Mensah MA, Holtgrewe M, Arbez-Gindre F, Martin A, Guigue V, Gaillard D, Landais E, Roze V, Kremer V, Ramanah R, Cabrol C, Harms FL, Kornak U, Spielmann M, Mundlos S, Van Maldergem L.
\nHum Genet<\/em> 2021 Aug 26. doi: 10.1007\/s00439-021-02344-6. Epub ahead of print.<\/p>\n

Chondrocytes From Osteoarthritic and Chondrocalcinosis Cartilage Represent Different Phenotypes<\/b>
\n<\/a>Meyer F, Dittmann A, Kornak U, Herbster M, Pap T, Lohmann CH, Bertrand J
\nFront Cell Dev Biol<\/em>. 2021 Apr 26;9:622287. doi: 10.3389\/fcell.2021.622287.<\/p>\n

Restructuring of the male mice peripheral circadian network after bariatric surgery<\/b>
\n<\/a>Neumann AM, Gei\u00dfler C, Pilorz V, Olejniczak I, Lewis AG, Seeley RJ, Shomroni O, Salinas-Riester G, Kirchner H, Oster H
\nJ Endocrinol. <\/em>2021 Jun 28;250(2):67-79. doi: 10.1530\/JOE-20-0611.<\/p>\n

Lrrc34 Interacts with Oct4 and Has an Impact on Telomere Length in Mouse Embryonic Stem Cells<\/b>
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\nStem Cells Dev.<\/em> 2021 Nov;30(22):1093-1102. doi: 10.1089\/scd.2021.0113. Epub 2021 Oct 27.<\/p>\n

Comparing a Novel Malformation Syndrome Caused by Pathogenic Variants in FBRSL1 to AUTS2 Syndrome<\/b><\/a>
\nPauli S, Berger H, Ufartes R, Borchers A
\nFront Cell Dev Biol<\/em> 2021 Nov 5;9:779009. doi: 10.3389\/fcell.2021.779009<\/p>\n

Caveolin3 Stabilizes McT1-Mediated Lactate\/Proton Transport in Cardiomyocytes<\/b>
\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.
\nCirc Res.<\/em> 2021 Jan 25. doi: 10.1161\/CIRCRESAHA.119.316547. Epub ahead of print.<\/p>\n

Toxicogenomic differentiation of functional responses to fipronil and imidacloprid in Daphnia magna<\/b><\/a>
\nPfaff J, Reinwald H, Ayobahan SU, Alvincz J, G\u00f6ckener B, Shomroni O, Salinas G, D\u00fcring RA, Sch\u00e4fers C, Eilebrecht S
\nAquat Toxicol<\/em> 2021 Jul 27;238:105927. doi: 10.1016\/j.aquatox.2021.105927. Online ahead of print.<\/p>\n

Oncogenic NRAS Accelerates Rhabdomyosarcoma Formation When Occurring within a Specific Time Frame during Tumor Development in Mice<\/b><\/a>
\nRagab N, Bauer J, Botermann DS, Uhmann A, Hahn H
\nInt J Mol Sci.<\/em> 2021 Dec 13;22(24):13377. doi: 10.3390\/ijms222413377.<\/p>\n

The Redox Homeostasis of Skeletal Muscle Cells Regulates Stage Differentiation of Toxoplasma gondii<\/b>
\n<\/a>Rahman MT, Swierzy IJ, Downie B, Salinas G, Blume M, McConville MJ, L\u00fcder CGK
\nFront Cell Infect Microbiol<\/em> 2021 Nov 22;11:798549. doi: 10.3389\/fcimb.2021.798549. eCollection 2021.<\/p>\n

Generation and cardiac differentiation of an induced pluripotent stem cell line from a patient with arrhythmia-induced cardiomyopathy<\/b>
\n<\/a>Rebs S, Beier J, Argyriou L, Schill T, Hasenfuss G, Vollmann D, Sossalla S, Streckfuss-B\u00f6meke K
\nStem Cell Res.<\/em> 2021 May;53:102263. doi: 10.1016\/j.scr.2021.102263. Epub 2021 Feb 20.<\/p>\n

Toxicogenomic fin(ger)prints for thyroid disruption AOP refinement and biomarker identification in zebrafish embryos<\/b>
\n<\/a>Reinwald H, K\u00f6nig A, Ayobahan SU, Alvincz J, Sipos L, G\u00f6ckener B, B\u00f6hle G, Shomroni O, Hollert H, Salinas G, Sch\u00e4fers C, Eilebrecht E, Eilebrecht S
\nSci Total Environ<\/em> 2021 Mar 15;760:143914. doi: 10.1016\/j.scitotenv.2020.143914. Epub 2020 Dec 10.<\/p>\n

A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions<\/b>
\n<\/a>Rodr\u00edguez de Los Santos M, Rivalan M, David FS, Stumpf A, Pitsch J, Tsortouktzidis D, Velasquez LM, Voigt A, Schilling K, Mattei D, Long M, Vogt G, Knaus A, Fischer-Zirnsak B, Wittler L, Timmermann B, Robinson PN, Horn D, Mundlos S, Kornak U, Becker AJ, Schmitz D, Winter Y, Krawitz PM.
\nProc Natl Acad Sci U S A.<\/em> 2021 Jan 12;118(2):e2014481118. doi: 10.1073\/pnas.2014481118.<\/p>\n

Efficient generation of osteoclasts from human induced pluripotent stem cells and functional investigations of lethal CLCN7-related osteopetrosis<\/b>
\n<\/a>R\u00f6ssler U, Hennig AF, Stelzer N, Bose S, Kopp J, S\u00f8e K, Cyganek L, Zifarelli G, Ali S, von der Hagen M, Str\u00e4ssler E, Hahn G, Pusch M, Stauber T, Izsv\u00e1k Z, Gossen M, Stachelscheid H, Kornak U
\nJ Bone Miner Res<\/em>. 2021 Apr 27;. [Epub ahead of print]\n

Biallelic variants in YRDC cause a developmental disorder with progeroid features<\/b>
\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
\nHum Genet<\/em>2021 Sep 20. doi: 10.1007\/s00439-021-02347-3. Epub ahead of print.<\/p>\n

TFE3 activation in a TSC1-altered malignant PEComa: challenging the dichotomy of the underlying pathogenic mechanisms<\/b>
\n<\/a>Schmiester M, Dolnik A, Kornak U, Pfitzner B, Hummel M, Treue D, Hartmann A, Agaimy A, Weyerer V, Lekaj A, Brakemeier S, Peters R, \u00d6llinger R, M\u00e4rdian S, Bullinger L, Striefler JK, Fl\u00f6rcken A
\nJ Pathol Clin Res. <\/em>2021 Jan;7(1):3-9. doi: 10.1002\/cjp2.187. Epub 2020 Nov 12.<\/p>\n

Prognostic factor identification by screening changes in differentially expressed genes in oral squamous cell carcinoma<\/b>
\n<\/a>Schminke B, Shomroni O, Salinas G, Bremmer F, Kauffmann P, Schliephake H, Oyelami F, Rahat MA, Brockmeyer P
\nOral Dis.<\/em> 2021 Apr 19. doi: 10.1111\/odi.13879. Epub ahead of print<\/p>\n

Aplasia cutis congenita in a CDC42-related developmental phenotype<\/b>
\n<\/a>Schnabel F, Kamphausen SB, Funke R, Kaulfu\u00df S, Wollnik B, Zenker M
\nAm J Med Genet A. <\/em>2021 Mar;185(3):850-855. doi: 10.1002\/ajmg.a.62009. Epub 2020 Dec 7.<\/p>\n

Premature ageing disorders – a clinical and genetic compendium<\/b>
\n<\/a>Schnabel F, Kornak U, Wollnik B.
\nClin Genet.<\/em> 2021 Jan;99(1):3-28. doi: 10.1111\/cge.13837. Epub 2020 Sep 29.<\/p>\n

Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia<\/b><\/a>
\nSchr\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.
\nGenet Med.<\/em> 2021 Feb;23(2):341-351. doi: 10.1038\/s41436-020-00979-w. Epub 2020 Oct 7.<\/p>\n

Using Xenopus to analyze neurocristopathies like Kabuki syndrome<\/b><\/a>
\nSchwenty-Lara J, Pauli S, Borchers A
\nGenesis<\/em> 2021 Feb;59(1-2):e23404. doi: 10.1002\/dvg.23404.<\/p>\n

Differences in synaptic vesicle pool behavior between male and female hippocampal cultured neurons<\/b><\/a>
\nSertel SM, Blumenstein W, Mandad S, Shomroni O, Salinas G, Rizzoli SO
\nSci Rep<\/em> 2021 Aug 30;11(1):17374. doi: 10.1038\/s41598-021-96846-y.<\/p>\n

The folate antagonist methotrexate diminishes replication of the coronavirus SARS-CoV-2 and enhances the antiviral efficacy of remdesivir in cell culture models<\/b>
\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
\nVirus Res<\/em> 2021 Jun 3:198469. doi: 10.1016\/j.virusres.2021.198469. Epub ahead of print.<\/p>\n

Clinical Phenotype and Relevance of LRP5 and LRP6 Variants in Patients With Early-Onset Osteoporosis (EOOP)<\/b>
\n<\/a>St\u00fcrznickel J, Rolvien T, Delsmann A, Butscheidt S, Barvencik F, Mundlos S, Schinke T, Kornak U, Amling M, Oheim R
\nJ Bone Miner Res.<\/em> 2021 Feb;36(2):271-282. doi: 10.1002\/jbmr.4197. Epub 2020 Nov 12.<\/p>\n

Compound heterozygous frameshift mutations in MESD cause a lethal syndrome suggestive of osteogenesis imperfecta type XX<\/b>
\n<\/a>St\u00fcrznickel J, J\u00e4hn-Rickert K, Zustin J, Hennig F, Delsmann MM, Schoner K, Rehder H, Kreczy A, Schinke T, Amling M, Kornak U, Oheim R.
\nJ Bone Miner Res<\/em> 2021 Feb 17. doi: 10.1002\/jbmr.4277. Epub ahead of print.<\/p>\n

CHARGE syndrome and related disorders: A mechanistic link<\/b><\/a>
\nUfartes R, Gr\u00fcn R, Salinas G, Sitte M, Kahl F, Wong MTY, van Ravenswaaij-Arts CMA, Pauli S
\nHum Mol Genet<\/em> 2021 Jul 6:ddab183. doi: 10.1093\/hmg\/ddab183. Epub ahead of print.<\/p>\n

Post-transcriptional regulation by the exosome complex is required for cell survival and forebrain development via repression of P53 signaling<\/b><\/a>
\nUlmke PA, Xie Y, Sokpor G, Pham L, Shomroni O, Berulava T, Rosenbusch J, Basu U, Fischer A, Nguyen HP, Staiger JF, Tuoc T
\nDevelopment<\/em>. 2021 Feb 8;148(3):dev188276. doi: 10.1242\/dev.188276.<\/p>\n

ATP6V0A2-Related Cutis Laxa<\/b>
\n<\/a>Van Maldergem L, Dobyns W, Kornak U.
\n2009 Mar 19 [updated 2021 Jan 28]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993\u20132021.<\/p>\n

Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa<\/b>
\n<\/a>Vogt G, El Choubassi N, Herczegfalvi \u00c1, K\u00f6lbel H, Lekaj A, Schara U, Holtgrewe M, Krause S, Horvath R, Schuelke M, H\u00fcbner C, Mundlos S, Roos A, Lochm\u00fcller H, Karcagi V, Kornak U, Fischer-Zirnsak B
\nJ Inherit Metab Dis.<\/em> 2021 Jul;44(4):972-986. doi: 10.1002\/jimd.12341. Epub 2021 Feb 4.<\/p>\n

Transmitted resistance in HIV-1 of patients from nine departments of Peru<\/b><\/a>
\nYabar CA, Vilcarino GF, Espetia S, Yaya MG, Salinas G, Garc\u00eda-Fern\u00e1ndez L, V\u00e1squez Becerra RD, Benites C, Santos-Anaya D, Mamani E, Acu\u00f1a M, Romero S, C\u00e1rdenas F
\nRev Peru Med Exp Salud Publica<\/em> 2021 Jan-Mar;38(1):77-82. doi: 10.17843\/rpmesp.2021.381.5527. Epub 2021 Jun 25.<\/p>\n

Cellular models and therapeutic perspectives in hypertrophic cardiomyopathy<\/b>
\n<\/a>Yigit G, Wollnik B.
\nMedizinische Genetik<\/em> 2021;33(3): 235-243. doi: 10.1515\/medgen-2021-2094.<\/p>\n

EVL regulates VEGF receptor-2 internalization and signaling in developmental angiogenesis<\/b>
\n<\/a>Zink J, Frye M, Fr\u00f6mel T, Carlantoni C, John D, Schreier D, Weigert A, Laban H, Salinas G, Stingl H, G\u00fcnther L, Popp R, Hu J, Vanhollebeke B, Schmidt H, Acker-Palmer A, Renn\u00e9 T, Fleming I, Benz PM
\nEMBO Rep<\/em> 2021 Feb 3;22(2):e48961. doi: 10.15252\/embr.201948961. Epub 2021 Jan 29.[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][\/vc_column][\/mk_page_section][mk_page_section][vc_column][vc_empty_space height=”100px” el_class=”v-spacer-100″][\/vc_column][\/mk_page_section]\n<\/div>","protected":false},"excerpt":{"rendered":"

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