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

About

Biography

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.

Interests

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

Interests

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

Research Areas

Human Genetics

Additional Languages

French

Insurance Information

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Publications

PPP2R1A neurodevelopmental disorder is associated with congenital heart defects. Baker, EK; Solivio, B; Pode-Shakked, B; Cross, LA; Sullivan, B; Raas-Rothschild, A; Chorin, O; Barel, O; Bar-Yosef, O; Husami, A; et al. American Journal of Medical Genetics, Part A. 2022.

Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders. Di Donato, N; Guerrini, R; Billington, CJ; Barkovich, AJ; Dinkel, P; Freri, E; Heide, M; Gershon, ES; Gertler, TS; Hopkin, RJ; et al. Brain. 2022.

A Collaborative Psychiatric-Genetics Inpatient Care Delivery Model Improves Access to Clinical Genetic Evaluation, Testing, and Diagnosis for Patients With Neurodevelopmental Disorders. Shillington, A; Lamy, M; Dominick, KC; Sorter, M; Erickson, CA; Hopkin, R. Frontiers in Genetics. 2022; 13.

Health Supervision for Children and Adolescents With Down Syndrome. Bull, MJ; Trotter, T; Santoro, SL; Christensen, C; COUNCIL ON GENETICS, ; Burke, LW; Berry, SA; Geleske, TA; Holm, I; Hopkin, RJ; et al. Pediatrics. 2022; 149.

Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome. Angelozzi, M; Karvande, A; Molin, AN; Ritter, AL; Leonard, JM M; Savatt, JM; Douglass, K; Myers, SM; Grippa, M; Tolchin, D; et al. Journal of Medical Genetics. 2022.

Burden of Valvular Heart Disease in Patients with Fabry Disease. Yogasundaram, H; Nikhanj, A; Chatur, S; Qi, A; Hagen, L; Bailey, L; Khan, A; Hopkin, RJ; Fine, NM; Jefferies, JL; et al. Journal of the American Society of Echocardiography. 2022; 35:236-238.

Robin sequence without cleft palate: Genetic diagnoses and management implications. Weaver, KN; Sullivan, BR; Balow, SA; Hopkin, S; Chini, BA; Pan, BS; Stottmann, RW; Bender, PL; Hopkin, RJ; Zhang, X; et al. American Journal of Medical Genetics, Part A. 2022; 188:160-177.

Development of the Fabry Disease Patient-Reported Outcome (FD-PRO): a new instrument to measure the symptoms and impacts of Fabry Disease. Hamed, A; DasMahapatra, P; Lyn, N; Gwaltney, C; Hopkin, RJ. Orphanet Journal of Rare Diseases. 2021; 16.

Like Mother, Like Daughter: Feeding Intolerance in the NICU. Khattar, D; Hopkin, RJ. NeoReviews. 2021; 22:e774-e777.

Clinical RNA sequencing confirms compound heterozygous intronic variants in RYR1 in a patient with congenital myopathy, respiratory failure, neonatal brain hemorrhage, and d-transposition of the great arteries. Shillington, A; Zea Vera, A; Perry, T; Hopkin, R; Thomas, C; Cooper, D; Suhrie, K. Molecular genetics & genomic medicine. 2021; 9.

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