Hartmut Engels

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Anita Rauch, Dagmar Wieczorek, Elisabeth Graf et al. · The Lancet · 2012 · 1.1K citations · Full text

Genetic Mutations, Mendelian Disorder, Genetic Disorder +7

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

Simone Berkel, Christian R. Marshall, Jennifer Howe et al. · Nature Genetics · 2010 · 571 citations

Neurodevelopmental Disorders, Synaptic Plasticity, Molecular Neuroscience +14

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 et al. · The American Journal of Human Genetics · 2012 · 257 citations · Full text

Chromatin, Developmental Biology, Chromatin Structure +11

Monogenic variants in dystonia: an exome-wide sequencing study

Michael Zech, Robert Jech, Sylvia Boesch et al. · The Lancet Neurology · 2020 · 206 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +3

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

Tzung‐Chien Hsieh, Aviram Bar-Haim, Shahida Moosa et al. · Nature Genetics · 2022 · 195 citations · Full text

Face Detection, Facial Recognition System, Medicine +4