Melissa Crenshaw

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

Clinical practice guidelines for the care of girls and women with Turner syndrome

Claus Højbjerg Gravholt, N.H. Andersen, Sophie Christin‐Maître et al. · European Journal of Endocrinology · 2024 · 182 citations · Full text

Medicine, Endocrinology, Gynecology +17

Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years

Angela E. Lin, Siddharth K. Prakash, N.H. Andersen et al. · American Journal of Medical Genetics Part A · 2019 · 51 citations · Full text

Medicine, Obstetrics, Pediatrics +10

Genotype–phenotype correlation in patients with bicuspid aortic valve and aneurysm

Kathleen C. Kent, Melissa Crenshaw, Denise Goh et al. · Journal of Thoracic and Cardiovascular Surgery · 2012 · 44 citations · Full text

Medicine, Cardiology, Genetics +14