A photo of Robert J. Hopkin.

Program Director, Medical Genetics Residency Programs, Division of Human Genetics

Associate Professor, UC Department of Pediatrics



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My Biography & Research


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.

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Clinical Interests

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

Research Interests

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

Academic Affiliation

Associate Professor, UC Department of Pediatrics


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

My Locations

My Education

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.

My Publications

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission. Guo, H; Li, Y; Shen, L; Wang, T; Jia, X; Liu, L; Xu, T; Ou, M; Hoekzema, K; Wu, H; et al. Science Advances. 2019; 5:eaax2166-eaax2166.

Redefining the Etiologic Landscape of Cerebellar Malformations. Aldinger, KA; Timms, AE; Thomson, Z; Mirzaa, GM; Bennett, JT; Rosenberg, AB; Roco, CM; Hirano, M; Abidi, F; Haldipur, P; et al. The American Journal of Human Genetics. 2019; 105:606-615.

Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13. Russell, BE; Whaley, KG; Bove, KE; Labilloy, A; Lombardo, RC; Hopkin, RJ; Leslie, ND; Prada, C; Assouline, Z; Barcia, G; et al. Hepatology. 2019; 70:1066-1070.

Fetal brain MRI findings and neonatal outcome of common diagnosis at a tertiary care center. Arroyo, MS; Hopkin, RJ; Nagaraj, UD; Kline-Fath, B; Venkatesan, C. Journal of Perinatology. 2019; 39:1072-1077.

Neonatal myocardial infarction in Williams–Beuren syndrome. Lesmana, H; Dyer, L; Morales, DL S; Ryan, TD; Hopkin, RJ. Progress in Pediatric Cardiology. 2019; 53:59-64.

A novel pathogenic variant in OFD1 results in X-linked Joubert syndrome with orofaciodigital features and pituitary aplasia. Aljeaid, D; Lombardo, RC; Witte, DP; Hopkin, RJ. American Journal of Medical Genetics, Part A. 2019; 179:1010-1014.

Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial. Ramaswami, U; Bichet, DG; Clarke, LA; Dostalova, G; Fainboim, A; Fellgiebel, A; Forcelini, CM; Haack, KA; Hopkin, RJ; Mauer, M; et al. Molecular Genetics and Metabolism. 2019; 127:86-94.

Health Supervision for Children With Neurofibromatosis Type 1. Miller, DT; Schorry, E; Ullrich, NJ; Viskochil, D; Korf, BR; Chen, E; Trotter, TL; Berry, SA; Burke, LW; Geleske, TA; et al. Pediatrics. 2019; 143:e20190660-e20190660.

CNTNAP1-Related Congenital Hypomyelinating Neuropathy. Lesmana, H; Lee, MV; Hosseini, SA; Burrow, TA; Hallinan, B; Bove, K; Schapiro, M; Hopkin, RJ. Pediatric Neurology. 2019; 93:43-49.

Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations. Grand, K; Gonzalez-Gandolfi, C; Ackermann, AM; Aljeaid, D; Bedoukian, E; Bird, LM; De Leon, DD; Diaz, J; Hopkin, RJ; Kadakia, SP; et al. American Journal of Medical Genetics, Part A. 2019; 179:542-551.