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 · 753 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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

Xianhua Piao, R. Sean Hill, Adria Bodell et al. · Science · 2004 · 522 citations

Life Sciences, Developmental Biology, Neuroscience +17

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 · 472 citations · Full text

Life Sciences, Genetics, Neurology +17

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

Life Sciences, Genetics, Molecular Genetics +17

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

Claire Redin, Harrison Brand, Ryan L. Collins et al. · Nature Genetics · 2016 · 354 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16