Sophia(Bous)HufnagelMD

Medical Genetics • Honolulu, HI

Clinical Genetics, Pediatric Medical Genetics

Physician

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Office
2828 Paa St
Honolulu, HI 96819
Phone+1 808-432-5700

Fax+1 202-476-5988

Education & Training

Cincinnati Children's Hospital Medical CenterResidency, Pediatrics/Medical Genetics and Genomics, 2010 - 2015
George Washington University School of Medicine and Health SciencesClass of 2010

Certifications & Licensure

HI State Medical License 2023 - 2026
DC State Medical License 2015 - 2024
MD State Medical License 2015 - 2018
OH State Medical License 2010 - 2016
American Board of Pediatrics Pediatrics
American Board of Medical Genetics and Genomics Clinical Genetics and Genomics

Publications & Presentations

PubMed

28 citations
Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations
Joel J. Hughes, Ebba Alkhunaizi, Paul Kruszka, Louise C. Pyle, Dorothy K. Grange
American Journal of Human Genetics. 2020-01-02
48 citations
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome
Leonie A. Menke, Thatjana Gardeitchik, Peter Hammond, Ketil Heimdal, Gunnar Houge
American Journal of Medical Genetics. Part A. 2018-04-01
21 citations
Adolescents’ preferences regarding disclosure of incidental findings in genomic sequencing that are not medically actionable in childhood
Sophia B. Hufnagel, Lisa J. Martin, Amy Cassedy, Robert J. Hopkin, Armand H. Matheny Antommaria
American Journal of Medical Genetics. Part A. 2016-08-01