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SH

Sophia Hufnagel

Physician · Hawaiʻi Pacific Health

Credentials: · · ·

History

Hawaiʻi Pacific Health
2024–Present

Medical Genetics and Genomics
Cincinnati Children's Hospital Medical Center
2011–2013
George Washington Univ Sch of Med
2006–2010

Research

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical…
Genetics in Medicine · 2017 · 1,300 citations
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome
American Journal of Medical Genetics Part A · 2018 · 65 citations
Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome
Human Molecular Genetics · 2016 · 44 citations

Robert Hopkin
4 papers
Armand Antommaria
2 papers
MM
Max Muenke
2 papers
Paul Kruszka
2 papers
Bruce Korf
1 paper
Carlos Prada
1 paper
Catharine Harris
1 paper
CE
Christine Eng
1 paper
Dorothy Grange
1 paper
Elizabeth Schorry
1 paper
Eric Vilain
1 paper
Eyby Janampa
1 paper