Robert L. Conway

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Jean-Baptiste Rivière, Ghayda Mirzaa, Brian J. O’Roak et al. · Nature Genetics · 2012 · 737 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +11

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2

Blake C. Ballif, Sara A. Hornor, Elizabeth S. Jenkins et al. · Nature Genetics · 2007 · 250 citations

Genetic Disorder, Medicine, Genetics +4

Megalencephaly‐capillary malformation (MCAP) and megalencephaly‐polydactyly‐polymicrogyria‐hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis

Ghayda Mirzaa, Robert L. Conway, Karen W. Gripp et al. · American Journal of Medical Genetics Part A · 2012 · 234 citations · Full text

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Ghayda Mirzaa, Andrew E. Timms, Valerio Conti et al. · JCI Insight · 2016 · 182 citations · Full text

Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients

Robert L. Conway, Barry D. Pressman, William B. Dobyns et al. · American Journal of Medical Genetics Part A · 2007 · 119 citations · Full text