Dena R. Matalon

ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis

Cole A. Deisseroth, Johannes Birgmeier, Ethan E. Bodle et al. · Genetics in Medicine · 2018 · 107 citations · Full text

Genetic Diseases, Medical Records, Medicine +10

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

Silvestre Cuinat, Mathilde Nizon, Bertrand Isidor et al. · Genetics in Medicine · 2022 · 44 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Genetic Disorder +7

Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

Dena R. Matalon, Cinthya Zepeda‐Mendoza, Mahmoud Aarabi et al. · Genetics in Medicine · 2023 · 43 citations · Full text

Family Medicine, Genetic Testing, American College +10

Confirming an expanded spectrum of <i>SCN2A</i> mutations: a case series

Dena R. Matalon, Ethan M. Goldberg, Līvija Medne et al. · Epileptic Disorders · 2014 · 36 citations

Pericentric inversion, inv(14)(p11.2q22.3), in a 9-month old with features of Goldenhar syndrome

Jill K. Northup, Dena R. Matalon, Judy C. Hawkins et al. · Clinical Dysmorphology · 2010 · 20 citations

Biology, Pericentric Inversion, Developmental Biology +15