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 · 709 citations · Full text

Eec Syndrome, Mendelian Disorder, Genetic Disorder +8

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 · 558 citations · Full text

Neurodevelopmental Disorders, Syndromic Autism, Genetics +13

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 · 364 citations

Mendelian Disorder, Treacher Collins, Rna Polymerases +9

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 · 348 citations · Full text

Chromatin, Genome Instability, Swi/snf Chromatin +10

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 · 315 citations