Diane Masser‐Frye

Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development

Changuk Chung, Xiaoxu Yang, Taejeong Bae et al. · Nature Genetics · 2023 · 98 citations · Full text

Developmental Anomaly, Developmental Biology, Somatic Mutations +10

Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico

Alicia Scocchia, Kristen Wigby, Diane Masser‐Frye et al. · npj Genomic Medicine · 2019 · 89 citations · Full text

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Michael D. Fountain, David S. Oleson, Megan Rech et al. · Genetics in Medicine · 2019 · 73 citations · Full text

Cornelia de Lange syndrome in diverse populations

Leah Dowsett, Antonio R. Porras, Paul Kruszka et al. · American Journal of Medical Genetics Part A · 2019 · 53 citations · Full text

Autoimmune Disease, Ophthalmology, Scleroderma +15

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations

Joel Hughes, Ebba Alkhunaizi, Paul Kruszka et al. · The American Journal of Human Genetics · 2019 · 46 citations · Full text

Urology, Mendelian Disorder, Isolated Sex Reversal +10