Avni Santani

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource

Natasha T. Strande, Erin Rooney Riggs, Adam H. Buchanan et al. · The American Journal of Human Genetics · 2017 · 536 citations · Full text

Clinical Genome Resource, Gene-disease Associations, Genome-wide Association Study +10

Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between

Gail P. Jarvik, Laura M. Amendola, Jonathan S. Berg et al. · The American Journal of Human Genetics · 2014 · 368 citations · Full text

Genomic Results, Genetic Testing, Research Participants +9

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

Laura M. Amendola, Michael O. Dorschner, Peggy D. Robertson et al. · Genome Research · 2015 · 356 citations · Full text

Genome-wide Association Study, Epidemiology, Sequencing +15

Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing

Diana Mandelker, Ryan J. Schmidt, Arunkanth Ankala et al. · Genetics in Medicine · 2016 · 237 citations · Full text

Engineering, Genetics, Molecular Biology +16

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Sébastien Küry, Geeske M. van Woerden, Thomas Besnard et al. · The American Journal of Human Genetics · 2017 · 193 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +5