Beth Keena

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

Magdalena Koczkowska, Yunjia Chen, Tom Callens et al. · The American Journal of Human Genetics · 2017 · 212 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes et al. · Human Mutation · 2015 · 190 citations · Full text

Medicine, Dermatology, Genetics +17

Growth curves for height in Noonan syndrome

David R. Witt, Beth Keena, Judith G. Hall et al. · Clinical Genetics · 1986 · 112 citations

Medicine, Human Development, Pediatrics +17

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

Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome

J. Bamforth, Claire O. Leonard, Bernard N. Chodirker et al. · American Journal of Medical Genetics · 1989 · 66 citations

Medicine, Anatomy, Pediatrics +13