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

5 citations
Laboratory policies on reporting secondary findings in clinical whole exome sequencing: Initial uptake of the ACMG's recommendations
Sophia B. Hufnagel, Armand H. Matheny Antommaria
American Journal of Medical Genetics. Part A. 2014-05-01
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
14 citations
A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia
Sophia B. Hufnagel, K. Nicole Weaver, Robert B. Hufnagel, Patricia I. Bader, Elizabeth K. Schorry
American Journal of Medical Genetics. Part A. 2014-10-01