Caroline M. Mebane

Diagnostic Utility of Exome Sequencing for Kidney Disease

Emily Groopman, Maddalena Marasà, Sophia Cameron‐Christie et al. · New England Journal of Medicine · 2018 · 773 citations · Full text

Medicine, Genetics, Nephrology +15

Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study

Slavé Petrovski, Vimla S. Aggarwal, Jessica L. Giordano et al. · The Lancet · 2019 · 605 citations

Medicine, Genetics, Molecular Genetics +14

An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis

Slavé Petrovski, Jamie L. Todd, Michael T. Durheim et al. · American Journal of Respiratory and Critical Care Medicine · 2017 · 250 citations

Life Sciences, Genetics, Molecular Genetics +17

Ultra-rare genetic variation in common epilepsies: a case-control sequencing study

Andrew S. Allen, Susannah T. Bellows, Samuel F. Berkovic et al. · The Lancet Neurology · 2017 · 234 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder

Lia Boyle, Lu Rao, Simranpreet Kaur et al. · Human Genetics and Genomics Advances · 2021 · 90 citations · Full text

Life Sciences, Genetics, Neurology +16