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.

Additional Languages


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


Human Genetics, Human Genetics, Neurofibromatosis Program, Hereditary Cancer Program, The 22Q-VCFS Center, Disorders of Sex Development Center, Stone Center, CHARGE Center, Hereditary Hemorrhagic Telangiectasia HHT Center, Brain Tumor Center, Best Doctors 2017-18, Craniofacial Center, Rasopathy

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

Aljeaid D, Lombardo RC, Witte DP, Hopkin RJ. A novel pathogenic variant in OFD1 results in X-linked Joubert syndrome with orofaciodigital features and pituitary aplasia. Am J Med Genet A. 2019 Mar 20.

Grand K, Gonzalez-Gandolfi C, Ackermann AM, Aljeaid D, Bedoukian E, Bird LM, De Leon DD, Diaz J, Hopkin RJ, Kadakia SP, Keena B, Klein KO, Krantz I, Leon E, Lord K, McDougall C, Medne L, Skraban CM, Stanley CA, Tarpinian J, Zackai E, Deardorff MA, Kalish JM. Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations. Am J Med Genet A. 2019.

Lesmana H, Vawter Lee M, Hosseini SA, Burrow TA, Hallinan B, Bove K, Schapiro M, Hopkin RJ. CNTNAP1-Related Congenital Hypomyelinating Neuropathy. Pediatr Neurol. 2018;S0887-8994(18)30797-5.

Stevens CA, Hogue JS, Hopkin RJ, Lombardo RC, Schrier Vergano SA. Congenital lumbar hernia-A feature of diabetic embryopathy? Am J Med Genet A. 2018;176(11):2243-2249.

Lombardo RC, Porollo A, Cnota JF, Hopkin RJ. Congenital heart disease and aortic arch variants associated with mutation in PHOX2B. Genet Med. 2018.

Lesmana H, Dyer L, Li X, Denton J, Griffiths J, Chonat S, Seu KG, Heeney MM, Zhang K, Hopkin RJ, Kalfa TA. Alu element insertion in PKLR gene as a novel cause of pyruvate kinase deficiency in Middle Eastern patients. Hum Mutat. 2018;39(3):389-393.

Lombardo RC, Hopkin R, Abu-El-Haija M. Impact of Genetic Testing in the Diagnosis and Management of Sucrase-Isomaltase Deficiency. Scientific Pages Gastroenterol. 2017;1:30-33.

Lombardo RC, Kramer E, Cnota JF, Sawnani H, Hopkin RJ. Variable phenotype in a novel mutation in PHOX2B. Am J Med Genet A. 2017.

Santoro SL, Yin H, Hopkin RJ. Adherence to Symptom-Based Care Guidelines for Down Syndrome. Clin Pediatr (Phila). 2017;56(2):150-156.