Jean‐Pierre Fryns

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1–like phenotype

Hilde Brems, Magdalena Chmara, Mourad Sahbatou et al. · Nature Genetics · 2007 · 467 citations

Genome Instability, Developmental Biology, Mendelian Disorder +8

Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome

Tjitske Kleefstra, Han G. Brunner, Jeanne Amiel et al. · The American Journal of Human Genetics · 2006 · 395 citations · Full text

Histone Modifications, Chromatin, Gene Deletion Data +14

Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency

Frédéric Laumonnier, Nathalie Ronce, Ben C.J. Hamel et al. · The American Journal of Human Genetics · 2002 · 294 citations · Full text

Transcriptional Regulation, Developmental Biology, Growth Hormone +10

Novel HOXA13 Mutations and the Phenotypic Spectrum of Hand-Foot-Genital Syndrome

Frances R. Goodman, Chiara Bacchelli, Angela F. Brady et al. · The American Journal of Human Genetics · 2000 · 259 citations · Full text

Novel Hoxa13 Mutations, Mendelian Disorder, Genetic Disorder +5

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

J. K. J. VAN HOUDT, Beata Nowakowska, Sérgio B. Sousa et al. · Nature Genetics · 2012 · 243 citations

Mendelian Disorder, Genetic Disorder, Medicine +5