Catharine Harris

Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes

Shawna M. Pyott, Ulrike Schwarze, Helena E. Christiansen et al. · Human Molecular Genetics · 2011 · 134 citations · Full text

Genetics, Osteogenesis, Molecular Genetics +19

aCGH detects partial tetrasomy of 12p in blood from Pallister–Killian syndrome cases without invasive skin biopsy

Aaron Theisen, Jill A. Rosenfeld, Sandra A. Farrell et al. · American Journal of Medical Genetics Part A · 2009 · 112 citations

Cytogenetics, Genetics, Diagnosis +23

MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways

Alex R. Paciorkowski, Ryan N. Traylor, Jill A. Rosenfeld et al. · Neurogenetics · 2013 · 108 citations · Full text

Consistent Hyperkinesis, Synaptic Plasticity, Developmental Biology +14

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

Ghayda Mirzaa, Valerio Conti, Andrew E. Timms et al. · The Lancet Neurology · 2015 · 78 citations · Full text

Biology, Phosphoinositide-3-kinase Regulatory Subunit, Perisylvian Polymicrogyria +7

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations

Joel Hughes, Ebba Alkhunaizi, Paul Kruszka et al. · The American Journal of Human Genetics · 2019 · 46 citations · Full text

Urology, Mendelian Disorder, Isolated Sex Reversal +10