RobertBHufnagelMDPhD(He/Him)

Clinical Genetics, Clinical Molecular Genetics, Pediatric Medical Genetics

Investigator, National Eye Institute

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National Human Genome Research InstituteABMGG, Clinical Molecular Genetics and Genomics, 2016 - 2017
National Eye InstituteFellowship, 2015 - 2016
Cincinnati Children's Hospital Medical CenterResidency, Pediatrics/Medical Genetics and Genomics, 2011 - 2016
University of Cincinnati College of MedicineClass of 2011

HI State Medical License 2023 - 2026
DC State Medical License 2015 - 2024
OH State Medical License 2011 - 2016
American Board of Pediatrics Pediatrics
American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
American Board of Medical Genetics and Genomics Clinical Molecular Genetics and Genomics

PubMed

18 citations
Gain-of-function mutations incause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH sy...
Christina Torres Kozycki, Shilpa Kodati, Laryssa Huryn, Hongying Wang, Blake M Warner
Annals of the Rheumatic Diseases. 2022-10-01
19 citations
Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort.
Lev Prasov, Bin Guan, Ehsan Ullah, Steven M. Archer, Bernadete Ayres
Scientific Reports. 2020-11-17
16 citations
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysa...
Elena R. Schiff, Malena Daich Varela, Anthony G. Robson, Karen Pierpoint, Rola Ba-Abbad
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2020-08-07