Arie van Haeringen

Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome

Jacopo Celli, Pascal H. G. Duijf, Ben C.J. Hamel et al. · Cell · 1999 · 715 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Holly A.F. Stessman, Bo Xiong, Bradley P. Coe et al. · Nature Genetics · 2017 · 580 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

Johannes G. Dauwerse, Jill Dixon, Saskia Seland et al. · Nature Genetics · 2010 · 368 citations

Life Sciences, Genetics, Molecular Genetics +7

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

Gijs W.E. Santen, Emmelien Aten, Yu Sun et al. · Nature Genetics · 2012 · 350 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

WHSC1, a 90 kb SET Domain-Containing Gene, Expressed in Early Development and Homologous to a Drosophila Dysmorphy Gene Maps in the Wolf-Hirschhorn Syndrome Critical Region and is Fused to IgH in t(1;14) Multiple Myeloma

Ingrid Stec, Tracy J. Wright, G.J.B. van Ommen et al. · Human Molecular Genetics · 1998 · 316 citations

Life Sciences, Genetics, Molecular Genetics +13