B Hamel

Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation

Lars Riff Jensen, M Amende, Ulf Gurok et al. · The American Journal of Human Genetics · 2005 · 376 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Mutations in the EXT1 and EXT2 Genes in Hereditary Multiple Exostoses

Wim Wuyts, Wim Van Hul, Kristel De Boulle et al. · The American Journal of Human Genetics · 1998 · 197 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

Frédéric Laumonnier, Cheryl Shoubridge, Catherine Antar et al. · Molecular Psychiatry · 2009 · 149 citations · Full text

Medicine, Genetics, Molecular Genetics +10

Genotype–phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis

Yvonne J. Vos, Hermien E. K. de Walle, K. K. Bos et al. · Journal of Medical Genetics · 2009 · 86 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Recurrent and founder mutations in the Netherlands

Jan J.J. Aalberts, Agnes G. Schuurman, Gerard Pals et al. · Netherlands Heart Journal · 2010 · 13 citations

Life Sciences, Genetics, Molecular Genetics +11