Frances Arianwen High MD PhD
Clinical Genetics, Pediatric Medical Genetics
Clinical Fellow in Pediatrics, Boston Children's Hospital
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55 Fruit StBoston, MA 02114
Phone+1 617-726-1561
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Education & Training
Harvard Medical School2011 - 2014
Boston 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
- Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants.Lu Qiao, Carrie L Welch, Rebecca Hernan, Julia Wynn, Usha S Krishnan
American Journal of Human Genetics. 2024-11-07 - Haploinsufficiency Contributes to the Development of Congenital Diaphragmatic Hernia.Katherine E Pendleton, Andres Hernandez-Garcia, Jennifer M Lyu, Ian M Campbell, Chad A Shaw
Journal of Pediatric Genetics. 2024-03-01 - 5 citationsBiallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.Reza Maroofian, Rauan Kaiyrzhanov, Elisa Cali, Mina Zamani, Maha S Zaki
Brain. 2023-12-01
Grant Support
- Functional Validation of Novel Variants Associated with Congenital Diaphragmatic HerniaJACKSON LABORATORY2024–2029
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