Gabriele Gillessen‐Kaesbach

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

Tetsuya Niihori, Yoko Aoki, Yoko Narumi et al. · Nature Genetics · 2006 · 593 citations

Mendelian Disorder, Genetic Disorder, Germline Kras +4

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

Matthew A. Deardorff, Masashige Bando, Ryuichiro Nakato et al. · Nature · 2012 · 563 citations · Full text

Mendelian Disorder, Cohesin Acetylation Cycle, Genetic Disorder +8

Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1

Frederick S. Kaplan, Meiqi Xu, Petra Seemann et al. · Human Mutation · 2008 · 436 citations

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

Epimutations in Prader-Willi and Angelman Syndromes: A Molecular Study of 136 Patients with an Imprinting Defect

Karin Buiting, Stephanie Groß, Christina Lich et al. · The American Journal of Human Genetics · 2003 · 366 citations · Full text

Imprinting Defect, Molecular Study, Angelman Syndromes