Lois J. Starr

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Magdalena Koczkowska, Tom Callens, Alicia Gomes et al. · Genetics in Medicine · 2018 · 93 citations · Full text

Medicine, Molecular Genetics, Neurology +11

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Sarah E. Sheppard, Ian M. Campbell, Margaret Harr et al. · American Journal of Medical Genetics Part A · 2021 · 72 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome

Dorien Schepers, Alexander Doyle, Gretchen Oswald et al. · European Journal of Human Genetics · 2014 · 61 citations · Full text

Life Sciences, Genetics, Molecular Biology +5

Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome

Gholson J. Lyon, Marall Vedaie, Travis Beisheim et al. · European Journal of Human Genetics · 2023 · 52 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Myhre syndrome: Clinical features and restrictive cardiopulmonary complications

Lois J. Starr, Dorothy K. Grange, Jeffrey W. Delaney et al. · American Journal of Medical Genetics Part A · 2015 · 43 citations

Medicine, Cardiology, Surgery +17