Sonja A. de Munnik

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

Jae-Ran Lee, Myriam Srour, Doyoun Kim et al. · Human Mutation · 2014 · 159 citations

Life Sciences, Genetics, Neurology +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

Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

Sonja A. de Munnik, Louise S. Bicknell, Salim Aftimos et al. · European Journal of Human Genetics · 2012 · 110 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome

Lindsay C. Burrage, Wu‐Lin Charng, Mohammad K. Eldomery et al. · The American Journal of Human Genetics · 2015 · 76 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype

Gea Beunders, Jiddeke van de Kamp, Pradeep Vasudevan et al. · Journal of Medical Genetics · 2016 · 74 citations · Full text

Medicine, Genetics, Molecular Genetics +17