Sumit Punj

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

Laura M. Amendola, Gail P. Jarvik, Michael C. Leo et al. · The American Journal of Human Genetics · 2016 · 564 citations · Full text

Sequencing, Medicine, Genetics +14

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Robert C. Green, Katrina A.B. Goddard, Gail P. Jarvik et al. · The American Journal of Human Genetics · 2016 · 161 citations · Full text

Epidemiology, Sequencing, Medicine +7

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

Julianne O’Daniel, Heather M. McLaughlin, Laura M. Amendola et al. · Genetics in Medicine · 2016 · 84 citations · Full text

Genetic Testing, Sequencing, Reporting Processes +12

The Clinical Utility of Genetic Testing in the Diagnosis and Management of Adults with Chronic Kidney Disease

Neera K. Dahl, Michelle S. Bloom, Fouad T. Chebib et al. · Journal of the American Society of Nephrology · 2023 · 68 citations · Full text

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

Geeske M. van Woerden, Melanie Bos, Charlotte de Konink et al. · Human Mutation · 2021 · 63 citations · Full text

Brain Development, Developmental Cognitive Neuroscience, Neurodevelopment +23