Meghan C. Towne

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

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Sébastien Küry, Geeske M. van Woerden, Thomas Besnard et al. · The American Journal of Human Genetics · 2017 · 201 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities – Support for the role of K(ATP) channels in this condition

Catherine A. Brownstein, Meghan C. Towne, Lovelace J. Luquette et al. · European Journal of Medical Genetics · 2013 · 97 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi et al. · The American Journal of Human Genetics · 2021 · 90 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities

Monica H. Wojcik, Talia S. Schwartz, Inbar Yamin et al. · Genetics in Medicine · 2018 · 86 citations · Full text

Life Sciences, Genetics, Pediatrics +14