Katie Plunkett

Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

Ian M. Campbell, Bo Yuan, Caroline Robberecht et al. · The American Journal of Human Genetics · 2014 · 278 citations · Full text

Down Syndrome, Influences Recurrence Risk, Developmental Biology +8

Isolated Mitochondrial Myopathy Associated With Muscle Coenzyme Q10 Deficiency

Seema R. Lalani, Georgirene D. Vladutiu, Katie Plunkett et al. · Archives of Neurology · 2005 · 125 citations

19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias

Simone Gana, Pierangelo Veggiotti, Giusy Sciacca et al. · European Journal of Human Genetics · 2012 · 49 citations · Full text

Genetics, Pathology, Disease Gene Identification +17

Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43–q44

Sandesh C. Sreenath Nagamani, Ayelet Erez, Carolyn Bay et al. · European Journal of Human Genetics · 2011 · 48 citations · Full text

Chromatin, Cytogenetics, Medicine +9

Craniofacial and anthropometric phenotype in ankyloblepharon–ectodermal defects–cleft lip/palate syndrome (Hay–Wells syndrome) in a cohort of 17 patients

V. Reid Sutton, Katie Plunkett, Diane X. Dang et al. · American Journal of Medical Genetics Part A · 2009 · 34 citations · Full text