Felicity Collins

<i>RASA1</i>Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation

Nicole Revençu, Laurence M. Boon, Antonella Mendola et al. · Human Mutation · 2013 · 292 citations

Medicine, Genetics, Cardiovascular Genetics +14

NAD Deficiency, Congenital Malformations, and Niacin Supplementation

Hongjun Shi, Annabelle Enriquez, Melissa Rapadas et al. · New England Journal of Medicine · 2017 · 243 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

Isabelle Perrault, Sophie Saunier, Sylvain Hanein et al. · The American Journal of Human Genetics · 2012 · 217 citations · Full text

Life Sciences, Genetics, Molecular Genetics +3

Early Diagnosis of Fibrodysplasia Ossificans Progressiva

Frederick S. Kaplan, Meiqi Xu, David L. Glaser et al. · PEDIATRICS · 2008 · 186 citations

Medicine, Genetics, Pediatrics +14

De novo mutations in the mitochondrial <i>ND3</i> gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency

Robert McFarland, Denise M. Kirby, Kerry J. Fowler et al. · Annals of Neurology · 2003 · 181 citations

Life Sciences, Genetics, Molecular Genetics +17