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Genomic basis of syndromic short stature in an Algerian patient cohort.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 606, doi. 10.1002/ajmg.a.62532
By:
- Moosa, Shahida;
- Chentli, Farida;
- Altmüller, Janine;
- Bögershausen, Nina;
- Nürnberg, Peter;
- Yigit, Gökhan;
- Li, Yun;
- Wollnik, Bernd
Publication type:
Article
Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1216, doi. 10.1002/ajmg.a.62070
By:
- Gangfuß, Andrea;
- Yigit, Gökhan;
- Altmüller, Janine;
- Nürnberg, Peter;
- Czeschik, Johanna Christina;
- Wollnik, Bernd;
- Bögershausen, Nina;
- Burfeind, Peter;
- Wieczorek, Dagmar;
- Kaiser, Frank;
- Roos, Andreas;
- Kölbel, Heike;
- Schara-Schmidt, Ulrike;
- Kuechler, Alma
Publication type:
Article
An Unusual Presentation of Kabuki Syndrome with Orbital Cysts, Microphthalmia, and Cholestasis with Bile Duct Paucity.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3282, doi. 10.1002/ajmg.a.37931
By:
- Bögershausen, Nina;
- Altunoglu, Umut;
- Beleggia, Filippo;
- Yigit, Gökhan;
- Kayserili, Hülya;
- Nürnberg, Peter;
- Li, Yun;
- Altmüller, Janine;
- Wollnik, Bernd
Publication type:
Article
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2644, doi. 10.1002/ajmg.a.37771
By:
- Di Donato, Nataliya;
- Kuechler, Alma;
- Vergano, Samantha;
- Heinritz, Wolfram;
- Bodurtha, Joann;
- Merchant, Sabiha R.;
- Breningstall, Galen;
- Ladda, Roger;
- Sell, Susan;
- Altmüller, Janine;
- Bögershausen, Nina;
- Timms, Andrew E.;
- Hackmann, Karl;
- Schrock, Evelin;
- Collins, Sarah;
- Olds, Carissa;
- Rump, Andreas;
- Dobyns, William B.
Publication type:
Article
A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 728, doi. 10.1002/ajmg.a.37484
By:
- Yigit, Gökhan;
- Wieczorek, Dagmar;
- Bögershausen, Nina;
- Beleggia, Filippo;
- Möller‐Hartmann, Claudia;
- Altmüller, Janine;
- Thiele, Holger;
- Nürnberg, Peter;
- Wollnik, Bernd
Publication type:
Article
Severe Cenani-Lenz syndrome caused by loss of LRP4 function.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1475, doi. 10.1002/ajmg.a.35920
By:
- Kariminejad, Ariana;
- Stollfuß, Barbara;
- Li, Yun;
- Bögershausen, Nina;
- Boss, Karin;
- Hennekam, Raoul C.M.;
- Wollnik, Bernd
Publication type:
Article
Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders.
Published in:
Frontiers in Molecular Neuroscience, 2018, p. 1, doi. 10.3389/fnmol.2018.00252
By:
- Bögershausen, Nina;
- Wollnik, Bernd
Publication type:
Article
A mutation screen in patients with Kabuki syndrome.
Published in:
Human Genetics, 2011, v. 130, n. 6, p. 715, doi. 10.1007/s00439-011-1004-y
By:
- Li, Yun;
- Bögershausen, Nina;
- Alanay, Yasemin;
- Simsek Kiper, Pelin;
- Plume, Nadine;
- Keupp, Katharina;
- Pohl, Esther;
- Pawlik, Barbara;
- Rachwalski, Martin;
- Milz, Esther;
- Thoenes, Michaela;
- Albrecht, Beate;
- Prott, Eva-Christina;
- Lehmkühler, Margret;
- Demuth, Stephanie;
- Utine, Gülen;
- Boduroglu, Koray;
- Frankenbusch, Katja;
- Borck, Guntram;
- Gillessen-Kaesbach, Gabriele
Publication type:
Article
A large duplication involving the IHH locus mimics acrocallosal syndrome.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 6, p. 639, doi. 10.1038/ejhg.2011.250
By:
- Yuksel-Apak, Memnune;
- Bögershausen, Nina;
- Pawlik, Barbara;
- Li, Yun;
- Apak, Selcuk;
- Uyguner, Oya;
- Milz, Esther;
- Nürnberg, Gudrun;
- Karaman, Birsen;
- Gülgören, Ayan;
- Grzeschik, Karl-Heinz;
- Nürnberg, Peter;
- Kayserili, Hülya;
- Wollnik, Bernd
Publication type:
Article
RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.
Published in:
Journal of Clinical Investigation, 2015, v. 125, n. 9, p. 3585, doi. 10.1172/JCI80102
By:
- Bögershausen, Nina;
- I.-Chun Tsai;
- Pohl, Esther;
- SimsekKiper, Pelin Özlem;
- Beleggia, Filippo;
- Percin, E. Ferda;
- Keupp, Katharina;
- Matchan, Angela;
- Milz, Esther;
- Alanay, Yasemin;
- Kayserili, Hülya;
- Yicheng Liu;
- Banka, Siddharth;
- Kranz, Andrea;
- Zenker, Martin;
- Wieczorek, Dagmar;
- Elcioglu, Nursel;
- Prontera, Paolo;
- Lyonnet, Stanislas;
- Meitinger, Thomas
Publication type:
Article
Mutations in CDK5 RAP2 cause Seckel syndrome.
Published in:
Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 5, p. 467, doi. 10.1002/mgg3.158
By:
- Yigit, Gökhan;
- Brown, Karen E.;
- Kayserili, Hülya;
- Pohl, Esther;
- Caliebe, Almuth;
- Zahnleiter, Diana;
- Rosser, Elisabeth;
- Bögershausen, Nina;
- Uyguner, Zehra Oya;
- Altunoglu, Umut;
- Nürnberg, Gudrun;
- Nürnberg, Peter;
- Rauch, Anita;
- Li, Yun;
- Thiel, Christian Thomas;
- Wollnik, Bernd
Publication type:
Article
CHARGE and Kabuki syndromes: a phenotypic and molecular link.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 16, p. 4396, doi. 10.1093/hmg/ddu156
By:
- Schulz, Yvonne;
- Freese, Luisa;
- Mänz, Johanna;
- Zoll, Barbara;
- Völter, Christiane;
- Brockmann, Knut;
- Bögershausen, Nina;
- Becker, Jutta;
- Wollnik, Bernd;
- Pauli, Silke
Publication type:
Article
A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 25, p. 5121, doi. 10.1093/hmg/ddt366
By:
- Wieczorek, Dagmar;
- Bögershausen, Nina;
- Beleggia, Filippo;
- Steiner-Haldenstätt, Sabine;
- Pohl, Esther;
- Li, Yun;
- Milz, Esther;
- Martin, Marcel;
- Thiele, Holger;
- Altmüller, Janine;
- Alanay, Yasemin;
- Kayserili, Hülya;
- Klein-Hitpass, Ludger;
- Böhringer, Stefan;
- Wollstein, Andreas;
- Albrecht, Beate;
- Boduroglu, Koray;
- Caliebe, Almuth;
- Chrzanowska, Krystyna;
- Cogulu, Ozgur
Publication type:
Article
WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.
Published in:
Human Mutation, 2022, v. 43, n. 10, p. 1454, doi. 10.1002/humu.24430
By:
- Bögershausen, Nina;
- Krawczyk, Hannah E.;
- Jamra, Rami A.;
- Lin, Sheng‐Jia;
- Yigit, Gökhan;
- Hüning, Irina;
- Polo, Anna M.;
- Vona, Barbara;
- Huang, Kevin;
- Schmidt, Julia;
- Altmüller, Janine;
- Luppe, Johannes;
- Platzer, Konrad;
- Dörgeloh, Beate B.;
- Busche, Andreas;
- Biskup, Saskia;
- Mendes, Marisa I.;
- Smith, Desiree E. C.;
- Salomons, Gajja S.;
- Zibat, Arne
Publication type:
Article
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
Published in:
Human Mutation, 2016, v. 37, n. 9, p. 847, doi. 10.1002/humu.23026
By:
- Bögershausen, Nina;
- Gatinois, Vincent;
- Riehmer, Vera;
- Kayserili, Hülya;
- Becker, Jutta;
- Thoenes, Michaela;
- Simsek‐Kiper, Pelin Özlem;
- Barat‐Houari, Mouna;
- Elcioglu, Nursel H.;
- Wieczorek, Dagmar;
- Tinschert, Sigrid;
- Sarrabay, Guillaume;
- Strom, Tim M.;
- Fabre, Aurélie;
- Baynam, Gareth;
- Sanchez, Elodie;
- Nürnberg, Gudrun;
- Altunoglu, Umut;
- Capri, Yline;
- Isidor, Bertrand
Publication type:
Article

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