Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without ‘hairy elbows’: expanding the phenotype of Wiedemann–Steiner syndrome

De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

Wendy D. Jones, Dimitra Dafou, Meriel McEntagart et al. · The American Journal of Human Genetics · 2012 · 282 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing

Samuel P. Strom, Reymundo Lozano, Hane Lee et al. · BMC Medical Genetics · 2014 · 63 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Distribution and Effects of Nonsense Polymorphisms in Human Genes

Yumi Yamaguchi‐Kabata, Makoto Shimada, Yosuke Hayakawa et al. · PLoS ONE · 2008 · 41 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Advanced bone age in a girl with Wiedemann–Steiner syndrome and an exonic deletion in <i>KMT2A</i> (<i>MLL</i>)

Bryce A. Mendelsohn, Melissa Pronold, Roger Long et al. · American Journal of Medical Genetics Part A · 2014 · 40 citations

Life Sciences, Genetics, Molecular Genetics +17

Wiedemann–Steiner syndrome: Three further cases

Rainer Koenig, Peter Meinecke, Alma Kuechler et al. · American Journal of Medical Genetics Part A · 2010 · 33 citations

Medicine, Dermatology, Ocular Disease +3