Rachel Westman

FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

Diana Mitter, Milka Pringsheim, Marc Kaulisch et al. · Genetics in Medicine · 2017 · 108 citations · Full text

Genetic Disorder, Genetics, Genetic Epidemiology +8

Vaginal Microbiota of Women with Frequent Vulvovaginal Candidiasis

Xia Zhou, Rachel Westman, Roxana Hickey et al. · Infection and Immunity · 2009 · 97 citations

Medical Microbiology, Microbial Systematics, Vulvar Diseases +14

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

Jennifer N. Dines, Katie Golden‐Grant, Amy Lacroix et al. · Genetics in Medicine · 2018 · 69 citations · Full text

Identification of novel candidate disease genes from de novo exonic copy number variants

Tomasz Gambin, Bo Yuan, Weimin Bi et al. · Genome Medicine · 2017 · 62 citations · Full text

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

Ghayda Mirzaa, Jessica X. Chong, Amélie Piton et al. · Genetics in Medicine · 2019 · 44 citations · Full text

Neurodevelopmental Disorders, Inherited Variants, Syndromic Autism +10