James D. Reggin

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

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

Ken Inoue, Mehrdad Khajavi, Tomoko Ohyama et al. · Nature Genetics · 2004 · 417 citations

Neurodegenerative Diseases, Allelic Variant, Molecular Neuroscience +12

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

INTERNATIONAL HEADACHE SOCIETY CRITERIA AND CHILDHOOD HEADACHE

Shashi S. Seshia, Jörg Wolstein, Coleen Adams et al. · Developmental Medicine & Child Neurology · 1994 · 99 citations

Tracheal agenesis and associated malformations: A comparison with tracheoesophageal fistula and the VACTERL association

Jane Evans, James D. Reggin, Cheryl R. Greenberg et al. · American Journal of Medical Genetics · 1985 · 83 citations