Peter Wieacker

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Anita Rauch, Dagmar Wieczorek, Elisabeth Graf et al. · The Lancet · 2012 · 1.1K citations · Full text

Genetic Mutations, Mendelian Disorder, Genetic Disorder +7

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Hao Hu, Stefan A. Haas, Jamel Chelly et al. · Molecular Psychiatry · 2015 · 299 citations · Full text

Mutations of the Ephrin-B1 Gene Cause Craniofrontonasal Syndrome

Ilse Wieland, Sibylle Jakubiczka, Petra Muschke et al. · The American Journal of Human Genetics · 2004 · 239 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +5

WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes

Axel Bohring, Thomas Stamm, Christiane Spaich et al. · The American Journal of Human Genetics · 2009 · 227 citations · Full text

Developmental Biology, Mendelian Disorder, Sex-biased Manifestation Pattern +11

The mutational spectrum in Waardenburg syndrome

Mayada Tassabehji, Valerie Newton, X.-Z. Liu et al. · Human Molecular Genetics · 1995 · 223 citations

Developmental Anomaly, Type 1, Mendelian Disorder +9