Nara Sobreira

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

Nara Sobreira, François Schiettecatte, David Valle et al. · Human Mutation · 2015 · 1.5K citations · Full text

Genetics, Genetic Epidemiology, Genomics +21

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

Anthony Philippakis, Danielle R. Azzariti, Sergi Beltrán et al. · Human Mutation · 2015 · 468 citations · Full text

Genetics, Genetic Epidemiology, Databases +21

New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, a Web-Based Tool for Linking Investigators with an Interest in the Same Gene

Nara Sobreira, François Schiettecatte, Corinne D. Boehm et al. · Human Mutation · 2015 · 177 citations · Full text

Genetics, Genetic Epidemiology, Disease Gene Identification +22

Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis

Anneline S.J.M. te Riele, Esperanza Agulló-Pascual, Cynthia A. James et al. · Cardiovascular Research · 2016 · 169 citations · Full text

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

Akemi Tanaka, Megan T. Cho, Francisca Millan et al. · The American Journal of Human Genetics · 2015 · 158 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Spata5 Are Associated +8