Eleanor R. Scimone

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Active since

2024

Affiliations

Bambino Gesù Children's Hospital(Current)

Inserm

Université Paris Cité

Massachusetts General Hospital

Eleanor R. Scimone is an author at Bambino Gesù Children's Hospital specializing in molecular genetics, germline variant interpretation, and cardiovascular genetics.

Publications per year

2024–2024

Publications

Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)

Angela E. Lin, Eleanor R. Scimone, Robyn P. Thom et al. · American Journal of Medical Genetics Part A · 2024 · 27 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline

K Wood, R. Spencer Tong, Marialetizia Motta et al. · The American Journal of Human Genetics · 2024 · 18 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations

Eva Vanbelleghem, Tim Van Damme, Aude Beyens et al. · European Journal of Human Genetics · 2024 · 10 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

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