Kim Jenny

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

Matthew N. Bainbridge, Hao Hu, Donna M. Muzny et al. · Genome Medicine · 2013 · 162 citations · Full text

Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure

Surabhi Mulchandani, Elizabeth Bhoj, Minjie Luo et al. · Genetics in Medicine · 2015 · 119 citations · Full text

Developmental Anomaly, Chromatin, Infertility +14

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

Emma Hilton, Jennifer J. Johnston, Sandra Whalen et al. · European Journal of Human Genetics · 2009 · 108 citations · Full text

Bcor Analysis, Clinical Disorders, Ophthalmology +5

Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis

Karen W. Gripp, Dina J. Zand, Laurie Demmer et al. · American Journal of Medical Genetics Part A · 2013 · 64 citations · Full text

Cardiac anomalies in Axenfeld–Rieger syndrome due to a novel <i>FOXC1</i> mutation

Karen W. Gripp, Elizabeth Hopkins, Kim Jenny et al. · American Journal of Medical Genetics Part A · 2012 · 62 citations