Hermine E. Veenstra‐Knol

Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene

J. Peter van Tintelen, Isabelle C Van Gelder, Angeliki Asimaki et al. · Heart Rhythm · 2009 · 164 citations · Full text

Cardiomyopathy, Heart Failure, Cardiovascular Disease +11

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Schrier Vergano et al. · Genetics in Medicine · 2018 · 127 citations · Full text

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 · 126 citations · Full text

Intellectual Impairment, Chromatin, Transcriptional Regulation +12

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

Margot R.F. Reijnders, Vasilios Zachariadis, Brooke Latour et al. · The American Journal of Human Genetics · 2016 · 106 citations · Full text

Developmental Anomaly, Developmental Biology, Mendelian Disorder +11

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

Katrina Tatton‐Brown, Anna Zachariou, Chey Loveday et al. · Wellcome Open Research · 2018 · 106 citations · Full text