Andrea Gropman
St. Jude Children's Research Hospital(US)Children's National(US)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Most-Cited Works
- → Phenotype and Course of Hutchinson–Gilford Progeria Syndrome(2008)736 cited
- → Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries(2012)594 cited
- → Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society(2014)588 cited
- → The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies(2016)350 cited
- → The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases(2012)287 cited
- → Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations(2001)259 cited