Nara Sobreira
Instituto Biológico(BR)Johns Hopkins University(US)Johns Hopkins Medicine(US)Johns Hopkins University Applied Physics Laboratory(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Cancer Genomics and Diagnostics, Connective tissue disorders research, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene(2015)1,537 cited
- → The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery(2015)482 cited
- → 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(2015)180 cited
- → Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis(2016)169 cited
- → Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss(2015)158 cited
- → ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm(2018)151 cited