Bernt Popp

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

Sabine Endele, Georg Rosenberger, Kirsten Geider et al. · Nature Genetics · 2010 · 509 citations

Life Sciences, Genetics, Neuroscience +16

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 · 267 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature

Nadine Hauer, Bernt Popp, Schoeller Eva et al. · Genetics in Medicine · 2017 · 147 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features

Paweł Stankiewicz, Tahir Naeem Khan, Przemysław Szafrański et al. · The American Journal of Human Genetics · 2017 · 113 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function

Gillian Rice, Sehoon Park, Francesco Gavazzi et al. · Human Mutation · 2020 · 113 citations · Full text

Life Sciences, Genetics, Immunology +17