Ute Hehr

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

Deeann Wallis, Erich Roessler, Ute Hehr et al. · Nature Genetics · 1999 · 427 citations

Developmental Biology, Genetic Disorder, Genetics +4

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

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

Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

Matthew A. Lines, Lijia Huang, Jeremy Schwartzentruber et al. · The American Journal of Human Genetics · 2012 · 213 citations · Full text

An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker–Warburg syndrome (WWS) caused by a mutation in the POMT1 gene

Gökhan Uyanık, Pervin Dinçer, Tobias Willer et al. · Neuromuscular Disorders · 2005 · 178 citations

Mendelian Disorder, Genetic Disorder, Genetics +9