Isabelle Maystadt

Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome

Damien Lederer, Bernard Grisart, M. Cristina Digilio et al. · The American Journal of Human Genetics · 2011 · 371 citations · Full text

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

Nathalie Van der Aa, Liesbeth Rooms, Geert Vandeweyer et al. · European Journal of Medical Genetics · 2009 · 215 citations

Developmental Biology, Genetic Disorder, Genetics +7

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

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Tony Roscioli, Erik‐Jan Kamsteeg, Karen Buysse et al. · Nature Genetics · 2012 · 209 citations · Full text

Mendelian Disorder, Genetic Disorder, Inherited Metabolic Disease +9

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

Magdalena Koczkowska, Yunjia Chen, Tom Callens et al. · The American Journal of Human Genetics · 2017 · 203 citations · Full text