FrancesArianwenHighMDPhD
Medical Genetics • Boston, MAClinical Genetics, Pediatric Medical Genetics
Clinical Fellow in Pediatrics, Boston Children's Hospital
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Office
55 Fruit St
Boston, MA 02114Phone+1 617-726-1561- Is this information wrong?
Education & Training
Harvard Medical School2011 - 2014
Children's Hospital/Boston Medical CenterResidency, Pediatrics, 2009 - 2011
Perelman School of Medicine at the University of PennsylvaniaClass of 2009
Certifications & Licensure
MA State Medical License 2013 - 2025- American Board of Pediatrics Pediatrics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.Reza Maroofian, Rauan Kaiyrzhanov, Elisa Cali, Mina Zamani, Maha S Zaki, Matteo Ferla, Domenico Tortora, Saeid Sadeghian, Saadia Maryam Saadi, Uzma Abdullah, Ehsan Gha...> ;Brain. 2023 Dec 1
- De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.Manuela Morleo, Rossella Venditti, Evangelos Theodorou, Lauren C Briere, Marion Rosello, Alfonsina Tirozzi, Roberta Tammaro, Nour Al-Badri, Frances A High, Jiahai Shi,...> ;American Journal of Human Genetics. 2023 Aug 3
- 3 citationsA de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster.Sharayu V Jangam, Lauren C Briere, Kristy L Jay, Jonathan C Andrews, Melissa A Walker, Lance H Rodan, Frances A High, , Shinya Yamamoto, David A Sweetser, Michael F Wa...> ;Genetics. 2023 Aug 9
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Hospital Affiliations
Massachusetts General HospitalBoston, Massachusetts
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