Robert J Hopkin MD FAAP, FACMGG

Clinical Genetics

Professor, Clinical Pediatrics, University of Cincinnati College of Medicine Department of Pediatrics

3333 Burnet Ave# 4006Cincinnati, OH 45229
Phone+1 513-636-4760
Fax+1 513-636-7297

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Summary

Robert Hopkin, MD, is a medical genetics specialist located in Cincinnati, OH, with subspecialties in clinical genetics. Educated at the University of Nevada, Reno School of Medicine, he completed his pediatric residency at Phoenix Children's Hospital and further training in medical genetics and genomics at Cincinnati Children's Hospital Medical Center. Dr. Hopkin is currently a professor at Cincinnati Children's Hospital Medical Center and has held various academic roles at the University of Cincinnati Medical Center. He has extensive experience with conditions such as neurofibromatosis, lysosomal storage diseases, intellectual disability, differences in sexual development, and very rare disorders and newly described conditions. His recent publications cover topics like Fabry disease and Myhre Syndrome. He has been acknowledged for his teaching excellence and medical research achievements.

Education & Training

Cincinnati Children's Hospital Medical CenterResidency, Medical Genetics and Genomics, 1994 - 1997
Phoenix Children's HospitalResidency, Pediatrics, 1990 - 1994
University of Nevada, Reno School of MedicineClass of 1990
Brigham Young UniversityB.S., Zoology, 1986

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Certifications & Licensure

OH State Medical License 1994 - 2028
KY State Medical License 2021 - 2027
AZ State Medical License 1993 - 1994
American Board of Pediatrics Pediatrics
American Board of Medical Genetics and Genomics Clinical Genetics and Genomics

Awards, Honors, & Recognition

Teacher of the year Cincinnati Children's Hospital Medical Center, 2001
Outstanding Medical Research While in Pediatric Residency Training 1994

Publications & Presentations

PubMed

2 citations
A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines.
Susan M White, Annelotte P Wondergem, Isa Breet, Maren Dittmaier, Katrina Bell
European Journal of Human Genetics. 2025-10-01
4 citations
Fabry disease in females: organ involvement and clinical outcomes compared with the general population (103/150 characters).
Robert J Hopkin, Dawn Laney, Sean Kazemi, Angela Walter
Orphanet Journal of Rare Diseases. 2025-08-13
5 citations
Research Review of Myhre Syndrome.
Maggie R Brand, Ryan Monsberger, Robert J Hopkin, Angela E Lin
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2025-06-06

Journal Articles

Cardiopulmonary Fitness Assessment on Maximal and Submaximal Exercise Testing in Patients with Fabry Disease
John L Jefferies, Clifford Chin, Robert J Hopkin, Adam W Powell, American Journal of Medical Genetics. Part A
Delineating the phenotype of 1p36 deletion in adolescents and adults
Brazil A, Stanford K, Smolarek T, Am J Med Genet A, 1/1/2014
Keutel syndrome: Report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis
Weaver KN, El Hallek M, Sund KL, Henrickson M, Del Gaudio D, Yuksel A, Acar GO, Bober MB, Kim J, Boyadjiev SA, Am J Med Genet A, 1/1/2014

Books/Book Chapters

Cleft Palate and Craniofacial Anomalies: Effects on Speech and Resonance
Chapter: Genetics and Patterns of Inheritance
Hopkin REditors: Ann W. Kummer.Thomson Delmar Learning, Clifton Park, NY2007
NORD Guide to Rare Disorders
Chapter: Pierre Robin Sequence
Page 235 - 236Prows CA, Hopkin RJLippincot Williams & Wilkins, Philadelphia, PA2003
Harrison’s Principles of Internal Medicine
Chapter: Lysosomal storage diseases
Grabowski GA, Hopkin RJMcGraw-Hill Professional, New YorkEdition 16th,2003

Abstracts/Posters

Two Cases of Maternal UPD(16) : Phenotypic Evidence of an Imprinting Disorder Affecting Chromosome 16
Lesmana H, Dyer L, Smolarek TA, ACMG, 1/1/2015
Improving Adherence to the Health Supervision Guidelines for Children with Down Syndrome
Stephanie Santoro, Lisa J. Martin, Stephen I. Pleatman, ACMG, 1/1/2015
Case Study: Phenotypic evidence for skewed X-inactivation in two siblings with an unbalanced X;22 translocation
Balow SA, Lesmana H, Leslie ND, Smolarek T, ACMG, 1/1/2015

Other

Cytochrome P450 Oxidoreductase Deficiency
Cragun D, Hopkin RJ, GeneReviews at GeneTests: Medical Genetics Information Resource
1/1/2005

Press Mentions

Sangamo Therapeutics Announces Evidence of Clinical Benefit in Phase 1/2 STAAR Study in Fabry DiseaseFebruary 22nd, 2023
Protalix’s Phase III Asset for Fabry Could Struggle to Demonstrate Superiority over Fabrazyme but Immunogenicity Benefits Support Regulatory Chances, Experts SayFebruary 5th, 2021
Sangamo Therapeutics Announces Updated Phase 1/2 STAAR Study Data in Fabry Disease Showing Sustained Benefit and Differentiated Safety ProfileFebruary 6th, 2024