A. Micheil Innes

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

G Protein-Coupled Receptor-Dependent Development of Human Frontal Cortex

Xianhua Piao, R. Sean Hill, Adria Bodell et al. · Science · 2004 · 519 citations

Developmental Cognitive Neuroscience, Cellular Neurobiology, Social Sciences +16

The Role of <i>PIEZO2</i> in Human Mechanosensation

Alexander T. Chesler, Marcin Szczot, Diana Bharucha‐Goebel et al. · New England Journal of Medicine · 2016 · 455 citations · Full text

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Catherine A. Brownstein, Alan H. Beggs, Nils Homer et al. · Genome biology · 2014 · 432 citations · Full text

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire Redin, Harrison Brand, Ryan L. Collins et al. · Nature Genetics · 2016 · 346 citations · Full text

Human Congenital Anomalies, Developmental Anomaly, Developmental Biology +8