B
Beate Albrecht
Researcher at University of Duisburg-Essen
Publications - 83
Citations - 6969
Beate Albrecht is an academic researcher from University of Duisburg-Essen. The author has contributed to research in topics: Microcephaly & Exome sequencing. The author has an hindex of 42, co-authored 83 publications receiving 6147 citations. Previous affiliations of Beate Albrecht include University of Tübingen.
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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
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
Jean Baptiste Rivière,Ghayda M. Mirzaa,Brian J. O'Roak,Margaret Beddaoui,Diana Alcantara,Robert L. Conway,Judith St-Onge,Jeremy Schwartzentruber,Karen W. Gripp,Sarah M. Nikkel,Thea Worthylake,Christopher T. Sullivan,Thomas R. Ward,Hailly Butler,Nancy Kramer,Beate Albrecht,Christine M. Armour,Linlea Armstrong,Oana Caluseriu,Cheryl Cytrynbaum,Beth A. Drolet,A. Micheil Innes,Julie Lauzon,Angela E. Lin,Grazia M.S. Mancini,Wendy S. Meschino,James D. Reggin,Anand Saggar,Tally Lerman-Sagie,Gã Khan Uyanik,Rosanna Weksberg,Birgit Zirn,Chandree L. Beaulieu,Jacek Majewski,Dennis E. Bulman,Mark O'Driscoll,Jay Shendure,John M. Graham,Kym M. Boycott,William B. Dobyns +39 more
TL;DR: Exome sequencing identified de novo germline or postzygotic mutations in three core components of the phosphatidylinositol 3-kinase (PI3K)-AKT pathway, highlighting the central role of PI3K-AKT signaling in vascular, limb and brain development.
Journal ArticleDOI
Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I.
P. Momeni,Gernot Glöckner,O. Schmidt,D. von Holtum,Beate Albrecht,Gabriele Gillessen-Kaesbach,Raoul C.M. Hennekam,P. Meinecke,Bernhard Zabel,André Rosenthal,B. Horsthemke,Hermann-Josef Lüdecke +11 more
TL;DR: The findings suggest that haploinsufficiency for this putative transcription factor causes TRPS I, which is inherited in an autosomal dominant manner.
Journal ArticleDOI
Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I
Huiling He,Sandya Liyanarachchi,Keiko Akagi,Rebecca Nagy,Jingfeng Li,Rosemary C. Dietrich,W. G. Li,Nikhil Sebastian,Bernard Wen,Baozhong Xin,Jarnail Singh,Pearlly S. Yan,Hansjuerg Alder,Eric Haan,Eric Haan,Dagmar Wieczorek,Beate Albrecht,Erik G. Puffenberger,Heng Wang,Judith A. Westman,Richard A. Padgett,David E. Symer,Albert de la Chapelle +22 more
TL;DR: It is shown that a gene encoding U4atac snRNA, a component of the minor U12-dependent spliceosome, is mutated in individuals with microcephalic osteodysplastic primordial dwarfism type I, a severe developmental disorder characterized by extreme intrauterine growth retardation and multiple organ abnormalities.
Journal ArticleDOI
Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III
H.-J. Lüdecke,J. Schaper,Peter Meinecke,P. Momeni,Stephanie Groß,D. von Holtum,H. Hirche,Marc Abramowicz,Beate Albrecht,C. Apacik,H.-J. Christen,Uwe Claussen,Koenraad Devriendt,E. Fastnacht,A. Forderer,Ursula Friedrich,Timothy H.J. Goodship,M. Greiwe,Henning Hamm,Raoul C.M. Hennekam,Georg Klaus Hinkel,Maria Hoeltzenbein,Hülya Kayserili,Frank Majewski,Michèle Mathieu,R. McLeod,Alina T. Midro,Ute Moog,Toshiro Nagai,Norio Niikawa,Karen Helene Ørstavik,E. Plöchl,Cornelia S. Seitz,Joerg Schmidtke,Lisbeth Tranebjærg,Masato Tsukahara,Bärbel Wittwer,Bernhard Zabel,Gabriele Gillessen-Kaesbach,B. Horsthemke +39 more
TL;DR: The data indicate that TRPS III is at the severe end of theTRPS spectrum and that it is most often caused by a specific class of mutations in the TRPS1 gene.