Jolien S. Klein Wassink‐Ruiter

<i>GRIN2A</i> -related disorders: genotype and functional consequence predict phenotype

Vincent Strehlow, Henrike Heyne, Danique R.M. Vlaskamp et al. · Brain · 2018 · 229 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

Holly A.F. Stessman, Marjolein H. Willemsen, Michaela Fencková et al. · The American Journal of Human Genetics · 2016 · 168 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

Jessica X. Chong, Margaret J. McMillin, Kathryn M. Shively et al. · The American Journal of Human Genetics · 2015 · 157 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families

Wilhelmina S. Kerstjens‐Frederikse, Ingrid M.B.H. van de Laar, Yvonne J. Vos et al. · Genetics in Medicine · 2016 · 142 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity

J.S. Witteveen, Marjolein H. Willemsen, Thaís Caroline Dallabona Dombroski et al. · Nature Genetics · 2016 · 132 citations · Full text

Life Sciences, Molecular Genetics, Neuroscience +16