Hartmut Engels
University of Bonn(DE)University Hospital Bonn(DE)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Congenital heart defects research, Chromosomal and Genetic Variations
Most-Cited Works
- → Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study(2012)1,063 cited
- → Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation(2010)575 cited
- → Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability(2012)264 cited
- → GestaltMatcher facilitates rare disease matching using facial phenotype descriptors(2022)196 cited
- → Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression(2010)179 cited
- → Severe mental retardation with breathing abnormalities (Pitt–Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4(2007)170 cited