H
Hartmut Engels
Researcher at University of Bonn
Publications - 80
Citations - 4713
Hartmut Engels is an academic researcher from University of Bonn. The author has contributed to research in topics: Microcephaly & Intellectual disability. The author has an hindex of 31, co-authored 72 publications receiving 4136 citations. Previous affiliations of Hartmut Engels include University Hospital Bonn & Leiden University Medical Center.
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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.
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Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.
Simone Berkel,Christian R. Marshall,Birgit Weiss,Jennifer L. Howe,Ralph Roeth,Ute Moog,Volker Endris,Wendy Roberts,Peter Szatmari,Dalila Pinto,Michael Bonin,Angelika Riess,Hartmut Engels,Rolf Sprengel,Stephen W. Scherer,Stephen W. Scherer,Gudrun A. Rappold +16 more
TL;DR: Using microarrays, de novo copy number variations in the SHANK2 synaptic scaffolding gene in two unrelated individuals with autism-spectrum disorder (ASD) and mental retardation are identified, further link common genes between ASD and intellectual disability.
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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.
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Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.
Markus Zweier,Anne Gregor,Christiane Zweier,Hartmut Engels,Heinrich Sticht,Eva Wohlleber,Emilia K. Bijlsma,Susan E. Holder,Martin Zenker,Eva Rossier,Ute Grasshoff,Diana Johnson,Lisa Robertson,Helen V. Firth,Cornelia Kraus,Arif B. Ekici,André Reis,Anita Rauch +17 more
TL;DR: The phenotypic overlap of patients with MEF2C mutations and atypical Rett syndrome is due to the involvement of a common pathway, and transcriptional reporter assays indicated that MEF 2C mutations diminish synergistic transactivation of E‐box promoters including that of MECP2 and CDKL5.
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Severe mental retardation with breathing abnormalities (Pitt–Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4
Antje Brockschmidt,Unda Todt,Soojin Ryu,Alexander Hoischen,Christina Landwehr,Stefanie Birnbaum,Wilhelm Frenck,Bernhard Radlwimmer,Peter Lichter,Hartmut Engels,Wolfgang Driever,Christian Kubisch,Ruthild G. Weber +12 more
TL;DR: The results show that haploinsufficiency of TCF4 causes Pitt-Hopkins syndrome and suggest that D. rerio is a valuable model to study the molecular pathogenesis of PHS and the role ofTCF4 in brain development.