Amy Hernandez

ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs

Marina T. DiStefano, Sarah E. Hemphill, Andrea M. Oza et al. · Genetics in Medicine · 2019 · 92 citations · Full text

Life Sciences, Bioinformatics, Genetics +8

The GeneInsight suite: a platform to support laboratory and provider use of DNA-based genetic testing

Samuel Aronson, Eugene Clark, Lawrence Babb et al. · Human Mutation · 2011 · 78 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys–Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD)

Jordan Lerner‐Ellis, Saud H. AlDubayan, Amy Hernandez et al. · Molecular Genetics and Metabolism · 2014 · 61 citations

Medicine, Genetics, Molecular Genetics +16

Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization

Celeste Eno, Pınar Bayrak‐Toydemir, Lora Jh Bean et al. · Genetics in Medicine · 2018 · 20 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16