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 · 1.6K citations · Full text

Life Sciences, Bioinformatics, Genetics +15

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

Anthony Philippakis, Danielle R. Azzariti, Sergi Beltrán et al. · Human Mutation · 2015 · 488 citations · Full text

Life Sciences, Bioinformatics, Genetics +13

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 · 181 citations · Full text

Life Sciences, Bioinformatics, Genetics +16

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

Life Sciences, Cardiology, Genetics +17

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 · 159 citations · Full text

Life Sciences, Genetics, Neuroscience +15