Emmelien Aten

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Holly A.F. Stessman, Bo Xiong, Bradley P. Coe et al. · Nature Genetics · 2017 · 558 citations · Full text

Neurodevelopmental Disorders, Syndromic Autism, Genetics +13

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

Gijs W.E. Santen, Emmelien Aten, Yu Sun et al. · Nature Genetics · 2012 · 348 citations · Full text

Chromatin, Genome Instability, Swi/snf Chromatin +10

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout et al. · Human Mutation · 2013 · 214 citations

Genetics, Genetic Epidemiology, Pathology +20

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

Michael D. Fountain, Emmelien Aten, Megan T. Cho et al. · Genetics in Medicine · 2016 · 116 citations · Full text

Schaaf-yang Syndrome, Autoimmune Disease, Genetic Disorder +8

The prevalence of genetic diagnoses in fetuses with severe congenital heart defects

A. van Nisselrooij, Malou A. Lugthart, Sally‐Ann B. Clur et al. · Genetics in Medicine · 2020 · 98 citations · Full text