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Andreas Dufke
Researcher at University of Tübingen
Publications - 77
Citations - 3587
Andreas Dufke is an academic researcher from University of Tübingen. The author has contributed to research in topics: Gene & Monosomy. The author has an hindex of 25, co-authored 70 publications receiving 3200 citations.
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Journal ArticleDOI
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Anita Rauch,Dagmar Wieczorek,Elisabeth Graf,Thomas Wieland,Sabine Endele,Thomas Schwarzmayr,Beate Albrecht,Deborah Bartholdi,Jasmin Beygo,Nataliya Di Donato,Andreas Dufke,Kirsten Cremer,Maja Hempel,Denise Horn,Juliane Hoyer,Pascal Joset,Albrecht Röpke,Ute Moog,Angelika Riess,Christian Thiel,Andreas Tzschach,Antje Wiesener,Eva Wohlleber,Christiane Zweier,Arif B. Ekici,Alexander M. Zink,Andreas Rump,Christa Meisinger,Harald Grallert,Heinrich Sticht,Annette Schenck,Hartmut Engels,Gudrun A. Rappold,Evelin Schröck,Peter Wieacker,Olaf Riess,Thomas Meitinger,André Reis,Tim M. Strom +38 more
TL;DR: The large number of de-novo variants in known intellectual disability genes is only partially attributable to known non-specific phenotypes, suggesting a strong bias in present clinical syndrome descriptions.
Journal ArticleDOI
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
Hao Hu,Stefan A. Haas,Jamel Chelly,Jamel Chelly,H Van Esch,Martine Raynaud,A.P.M. de Brouwer,Stefanie Weinert,Guy Froyen,Suzanna G.M. Frints,Frédéric Laumonnier,Tomasz Zemojtel,Michael I. Love,Hugues Richard,Anne-Katrin Emde,M Bienek,C Jensen,Melanie Hambrock,Utz Fischer,Claudia Langnick,Mirjam Feldkamp,Willemijn M. Wissink-Lindhout,Nicolas Lebrun,Nicolas Lebrun,L. Castelnau,L. Castelnau,Julien Rucci,Julien Rucci,R. Montjean,R. Montjean,Olivier Dorseuil,Olivier Dorseuil,Pierre Billuart,Pierre Billuart,T. Stuhlmann,Marie Shaw,Mark A. Corbett,Alison Gardner,Saffron A.G. Willis-Owen,Saffron A.G. Willis-Owen,C Tan,Kathryn Friend,Stefanie Belet,K. E. P. van Roozendaal,M Jimenez-Pocquet,Marie-Pierre Moizard,Nathalie Ronce,Ruping Sun,Sean O'Keeffe,Ramu Chenna,A. van Bömmel,Jonathan Göke,Anna Hackett,Michael Field,Louise Christie,Jackie Boyle,Eric Haan,Eric Haan,John Nelson,Gillian Turner,Gareth Baynam,Gabriele Gillessen-Kaesbach,Ulrich Müller,Daniela Steinberger,Bartłomiej Budny,Magdalena Badura-Stronka,Anna Latos-Bielenska,Lilian Bomme Ousager,Peter Wieacker,G. Rodríguez Criado,Marie-Louise Bondeson,Göran Annerén,Andreas Dufke,Monika Cohen,L. Van Maldergem,Catherine Vincent-Delorme,Bernard Echenne,B. Simon-Bouy,Tjitske Kleefstra,Marjolein H. Willemsen,J. P. Fryns,Koenraad Devriendt,Reinhard Ullmann,Martin Vingron,Klaus Wrogemann,Klaus Wrogemann,Thomas F. Wienker,Andreas Tzschach,H Van Bokhoven,Jozef Gecz,Thomas J. Jentsch,Wei Chen,Hans-Hilger Ropers,Vera M. Kalscheuer +93 more
TL;DR: It is suggested that systematic sequencing of all X-chromosomal genes in a cohort of patients with genetic evidence for X- Chromosome locus involvement may resolve up to 58% of Fragile X-negative cases.
Journal ArticleDOI
Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability
Juliane Hoyer,Arif B. Ekici,Sabine Endele,Bernt Popp,Christiane Zweier,Antje Wiesener,Eva Wohlleber,Andreas Dufke,Eva Rossier,Corinna Petsch,Markus Zweier,Ina Göhring,Alexander M. Zink,Gudrun A. Rappold,Evelin Schröck,Dagmar Wieczorek,Olaf Riess,Hartmut Engels,Anita Rauch,Anita Rauch,André Reis +20 more
TL;DR: Mutational analysis in 887 unselected patients with unexplained ID indicates that haploinsufficiency of ARID1B, a member of the SWI/SNF-A chromatin-remodeling complex, is a common cause of ID, and it is added to the growing evidence that Chromatin- Remodeling defects are an important contributor to neurodevelopmental disorders.
Journal ArticleDOI
Small supernumerary marker chromosomes – progress towards a genotype-phenotype correlation
Thomas Liehr,Kristin Mrasek,Anja Weise,Andreas Dufke,Laura Rodríguez,N. Martínez Guardia,A Sanchís,Joris Vermeesch,Christian Ramel,A Polityko,O A Haas,Jasen Anderson,Uwe Claussen,F. von Eggeling,Heike Starke +14 more
TL;DR: The first draft of a basic genotype-phenotype correlation for sSMC for all human chromosomes apart from the chromosomes Y, 10, 11 and 13 is presented.
Journal ArticleDOI
Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification
Heike Starke,Angela Nietzel,Anja Weise,Anita Heller,Kristin Mrasek,Britta Belitz,Christine Kelbova,Marianne Volleth,Beate Albrecht,Beate Mitulla,Ralf Trappe,Iris Bartels,Sabine Adolph,Andreas Dufke,Sylke Singer,Markus Stumm,Rolf-Dieter Wegner,J. Seidel,Angela Schmidt,Alma Kuechler,Isolde Schreyer,Uwe Claussen,Ferdinand von Eggeling,Thomas Liehr +23 more
TL;DR: 35 SMCs, which are derived from all human chromosomes, apart from chromosome 6, are presented, as demonstrated by the appropriate molecular cytogenetic approaches, such as centromere-specific multicolor fluoresence in situ hybridization (cenM-FISH), multicolOR banding (MCB), and subcentromer-specificMulticolor FISH (subcenFISH).