James T. Bennett

Lymphatic and Other Vascular Malformative/Overgrowth Disorders Are Caused by Somatic Mutations in PIK3CA

Valerie L. Luks, Nolan Kamitaki, Matthew P. Vivero et al. · The Journal of Pediatrics · 2015 · 565 citations · Full text

Developmental Anomaly, Developmental Biology, Somatic Mutations +8

Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes

Michael O. Dorschner, Laura M. Amendola, Emily H. Turner et al. · The American Journal of Human Genetics · 2013 · 381 citations · Full text

Pathogenic Incidental Findings, Genetic Epidemiology, Mendelian Disorder +1

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

Laura M. Amendola, Michael O. Dorschner, Peggy D. Robertson et al. · Genome Research · 2015 · 356 citations · Full text

Genome-wide Association Study, Epidemiology, Sequencing +15

Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia

Nynke Oosterhof, Irene J. Chang, Ehsan Ghayoor Karimiani et al. · The American Journal of Human Genetics · 2019 · 254 citations · Full text

Pediatric-onset Leukoencephalopathy, Homozygous Mutations, Neurological Disorder +10

Targeted long-read sequencing identifies missing disease-causing variation

Danny E. Miller, Arvis Sulovari, Tianyun Wang et al. · The American Journal of Human Genetics · 2021 · 227 citations · Full text

Long-read Sequencing, Long-read Sequencing Identifies, Next-generation Sequencing +4