Kelly L. Jones

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

<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Konrad Platzer, Hongjie Yuan, Hannah M. Schutz et al. · Journal of Medical Genetics · 2017 · 249 citations · Full text

22q11.2 deletion syndrome in diverse populations

Paul Kruszka, Yonit A. Addissie, Daniel E. McGinn et al. · American Journal of Medical Genetics Part A · 2017 · 165 citations · Full text

Ethnicity, Genetics, Genetic Epidemiology +19

Noonan syndrome in diverse populations

Paul Kruszka, Antonio R. Porras, Yonit A. Addissie et al. · American Journal of Medical Genetics Part A · 2017 · 89 citations · Full text