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

Health care supervision for children with Williams syndrome. Morris, CA; Braddock, SR; Chen, E; Trotter, TL; Berry, SA; Burke, LW; Geleske, TA; Hamid, R; Hopkin, RJ; Introne, WJ; et al. Pediatrics. 2020; 145:e20193761-e20193761.

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1. Koczkowska, M; Callens, T; Chen, Y; Gomes, A; Hicks, AD; Sharp, A; Johns, E; Uhas, KA; Armstrong, L; Bosanko, KA; et al. Human Mutation. 2020; 41:299-315.

Novel parent-of-origin-specific differentially methylated loci on chromosome 16. Schulze, KV; Szafranski, P; Lesmana, H; Hopkin, RJ; Hamvas, A; Wambach, JA; Shinawi, M; Zapata, G; Carvalho, CM B; Liu, Q; et al. Clinical Epigenetics. 2019; 11.

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum. Konrad, ED H; Nardini, N; Caliebe, A; Nagel, I; Young, D; Horvath, G; Santoro, SL; Shuss, C; Ziegler, A; Bonneau, D; et al. Genetics in Medicine. 2019; 21:2723-2733.

Prenatal evaluation of the Sakoda complex. Nagaraj, UD; Moudgal, R; Hopkin, RJ; Venkatesan, C; Kline-Fath, BM. Pediatric Radiology: roentgenology, nuclear medicine, ultrasonics, CT, MRI. 2019; 49:1843-1847.

Genomic education for the next generation of health-care providers. Campion, M; Goldgar, C; Hopkin, RJ; Prows, CA; Dasgupta, S. Genetics in Medicine. 2019; 21:2422-2430.

Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features. Russell, BE; Rigueur, D; Weaver, KN; Sund, K; Basil, JS; Hufnagel, RB; Prows, CA; Oestreich, A; AlGazali, L; Hopkin, RJ; et al. Molecular Genetics and Genomic Medicine. 2019; 7.

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. Magini, P; Smits, DJ; Vandervore, L; Schot, R; Columbaro, M; Kasteleijn, E; van der Ent, M; Palombo, F; Lequin, MH; Dremmen, M; et al. The American Journal of Human Genetics. 2019; 105:689-705.

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects. Accogli, A; Calabretta, S; St-Onge, J; Boudrahem-Addour, N; Dionne-Laporte, A; Joset, P; Azzarello-Burri, S; Rauch, A; Krier, J; Fieg, E; et al. The American Journal of Human Genetics. 2019; 105:854-868.

Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence. Lukacs, M; Gilley, J; Zhu, Y; Orsomando, G; Angeletti, C; Liu, J; Yang, X; Park, J; Hopkin, RJ; Coleman, MP; et al. Experimental Neurology. 2019; 320:112961-112961.