Charles M. Strom

Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

Michael S. Watson, Garry R. Cutting, Robert J. Desnick et al. · Genetics in Medicine · 2004 · 450 citations · Full text

Genetic Testing, Genetic Disorder, Medicine +8

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Enza Maria Valente, Clare V. Logan, Soumaya Mougou-Zerelli et al. · Nature Genetics · 2010 · 281 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +8

FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: Insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States

Feras Hantash, Dana Goos, Beryl Crossley et al. · Genetics in Medicine · 2010 · 105 citations · Full text

Fragile X Syndrome, Medicine, Fragile X Spectrum +5

MODE OF DELIVERY AND RISK OF RESPIRATORY DISEASES IN NEWBORNS

Elliot M. Levine, Vivek Ghai, John Barton et al. · Obstetrics and Gynecology · 2001 · 83 citations

Neonatal Resuscitation, Asthma, Neonatology +9

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders

Izabela Karbassi, Glenn A. Maston, Angela Love et al. · Human Mutation · 2015 · 70 citations · Full text

Genetic Testing, Genetics, Polygenic Risk +20