A photo of Robert J. Hopkin.

Robert J. Hopkin, MD

  • Program Director, Medical Genetics Residency Programs, Division of Human Genetics
  • Associate Professor, UC Department of Pediatrics



Robert J. Hopkin, MD, is an associate professor of clinical pediatrics at Cincinnati Children's Hospital Medical Center within the University of Cincinnati College of Medicine. Dr. Hopkin graduated from the University of Nevada Medical School. He completed residency and chief residency in pediatrics at the Phoenix Children's Hospital, Maricopa Medical Center Combined Residency Program. His training in medical genetics was completed at Cincinnati Children's Hospital Medical Center.

The majority of Dr. Hopkin's time is spent in caring for patients with genetic disorders. He participates in clinics from Fetal Care to Adult Genetics. He is also actively involved in education of health care providers regarding the application of genetics for patient care. Dr Hopkin has participated in a number of clinical trials and is a member of American College of Medical Genetics Committee on Therapeutics. He has participated in natural history studies on Fabry disease, Pompe disease, velocardiofacial syndrome, Pierre Robin sequence, neurofibromatosis type I, and several other genetic conditions. The unifying principle in his research interests is application of scientific knowledge to improve outcomes for patients afflicted with genetic disorders.

MD: University of Nevada Medical School, Reno, NV, 1990.

Residency: Phoenix Children's Hospital, Manicopa Medical Center, Phoenix, AZ, 1993; Phoenix Children's Hospital, Manicopa Medical Center, Phoenix, AZ, 1994.

Fellowship: Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 1997.

Certification: Pediatrics, 1993; Clinical Genetics, 1996.


Fabry disease and other lysosomal storage diseases; craniofacial genetics; 22q11 deletion; clinical intervention for genetic disease; neurofibromatosis; dysmorphology; prenatal diagnosis of genetic syndromes

Services and Specialties

Genetics, Neurofibromatosis, Hereditary Cancer, 22Q-VCFS, Differences of Sex Development, Kidney Stones, Hereditary Hemorrhagic Telangiectasia, Brain Tumor, Craniofacial Disorders, Rasopathy


Fabry disease; Robin sequence; 22q11 deletion; neurofibromatosis; craniofacial genetics; chromosomal anomalies

Research Areas

Human Genetics

Additional Languages


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Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies. Serbinski, CR; Vanderwal, A; Chadwell, SE; Sanchez, AI; Hopkin, RJ; Hufnagel, RB; Weaver, KN; Prada, CE. American Journal of Medical Genetics, Part A. 2024; 194:195-202.

Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology. Owens, JW; Hopkin, RJ; Martin, LJ; Kodani, A; Simpson, BN. Annals of Human Genetics. 2024; 88:86-100.

Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study. Bichet, DG; Hopkin, RJ; Aguiar, P; Allam, SR; Chien, YH; Giugliani, R; Kallish, S; Kineen, S; Lidove, O; Niu, DM; et al. Frontiers in Medicine. 2023; 10:1220637.

RNA sequencing reveals a complete picture of a homozygous missense variant in a patient with VPS13D movement disorder: a case report and review of the literature. Baker, EK; Han, J; Langley, WA; Reott, MA; Hallinan, BE; Hopkin, RJ; Zhang, W. Molecular Genetics and Genomics: an international journal. 2023; 298:1185-1199.

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms. Kaur, M; Blair, J; Devkota, B; Fortunato, S; Clark, D; Lawrence, A; Kim, J; Do, W; Semeo, B; Katz, O; et al. American Journal of Medical Genetics, Part A. 2023; 191:2113-2131.

Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes. Hughes, DA; Bichet, DG; Giugliani, R; Hopkin, RJ; Krusinska, E; Nicholls, K; Olivotto, I; Feldt-Rasmussen, U; Sakai, N; Skuban, N; et al. Journal of medical genetics. 2023; 60:722-731.

Global reach of over 20 years of experience in the patient-centered Fabry Registry: Advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry community. Wanner, C; Ortiz, A; Wilcox, WR; Hopkin, RJ; Johnson, J; Ponce, E; Ebels, JT; Batista, JL; Maski, M; Politei, JM; et al. Molecular Genetics and Metabolism. 2023; 139:107603.

Prevalence of lymphedema among Anderson-Fabry disease patients: A report from the Fabry registry. Alkhatib, D; Vega, JA; Pour-Ghaz, I; Al-Taweel, O; Khan, S; DeCarr, K; Bath, A; Rawal, A; Wilbanks, D; Raja, J; et al. Molecular Genetics and Metabolism. 2023; 138:107538.

Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study. Deegan, PB; Goker-Alpan, O; Geberhiwot, T; Hopkin, RJ; Lukina, E; Tylki-Szymanska, A; Zaher, A; Sensinger, C; Gaemers, SJ M; Modur, V; et al. Molecular Genetics and Metabolism. 2023; 138:106963.

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller-Dieker syndrome. Baker, EK; Brewer, CJ; Ferreira, L; Schapiro, M; Tenney, J; Wied, HM; Kline-Fath, BM; Smolarek, TA; Weaver, KN; Hopkin, RJ. American Journal of Medical Genetics, Part A. 2023; 191:526-539.

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