Yolande van Bever

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

Kristien Hoornaert, Inge Vereecke, Chantal Dewinter et al. · European Journal of Human Genetics · 2010 · 147 citations · Full text

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +11

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

Molecular Diagnosis, Mendelian Disorder, Genetic Disorder +9

Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA)

Liesbeth Rooms, Edwin Reyniers, Rob van Luijk et al. · Human Mutation · 2003 · 105 citations

Cytogenetics, Neurological Disorder, Genetics +22

A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands

Rick van Minkelen, Yolande van Bever, Joan N. R. Kromosoeto et al. · Clinical Genetics · 2013 · 91 citations

Neurological Disorder, Diagnosis, Pathology +20

<i>ACTG2</i>variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

Danny Halim, Robert M.W. Hofstra, Luca Signorile et al. · Human Molecular Genetics · 2015 · 67 citations

Developmental Biology, Molecular Physiology, Medicine +13