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

Clinical Divisions

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

Research Divisions

Human Genetics

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

Fabry disease and COVID-19: international expert recommendations for management based on real-world experience. Laney, DA; Germain, DP; Oliveira, JP; Burlina, AP; Cabrera, GH; Hong, G; Hopkin, RJ; Niu, D; Thomas, M; Trimarchi, H; et al. Clinical Kidney Journal. 2020; 13:913-925.

Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: A Fabry Registry analysis stratified by phenotype. Hopkin, RJ; Feldt-Rasmussen, U; Germain, DP; Jovanovic, A; Martins, AM; Nicholls, K; Ortiz, A; Politei, J; Ponce, E; Varas, C; et al. Molecular Genetics and Metabolism Reports. 2020; 25:100670-100670.

Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes. Abell, K; Tolusso, L; Smith, N; Hopkin, R; Vawter-Lee, M; Habli, M; Riddle, S; Calvo-Garcia, MA; Guan, Q; Bierbrauer, K; et al. Birth Defects Research. 2020; 112:1733-1737.

XY gonadal dysgenesis in a phenotypic female identified by direct-to-consumer genetic testing. Kim, A; Abell, K; Johnson, J; Cizek, S; Breech, L; Ernst, MM; Hopkin, RJ; Kennedy, K; Stanek, J; Strine, AC; et al. Pediatrics. 2020; 146:e20193302-e20193302.

Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: A consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup. Germain, DP; Oliveira, JP; Bichet, DG; Yoo, H; Hopkin, RJ; Lemay, R; Politei, J; Wanner, C; Wilcox, WR; Warnock, DG. Journal of Medical Genetics. 2020; 57:542-551.

Early behavioral and developmental interventions in ADNP-syndrome: A case report of SWI/SNF-related neurodevelopmental syndrome. Shillington, A; Pedapati, E; Hopkin, R; Suhrie, K. Molecular Genetics and Genomic Medicine. 2020; 8.

Confirmatory testing illustrates additional risks for structural sex chromosome abnormalities in fetuses with a non-invasive prenatal screen positive for monosomy X. Sund, KL; Khattar, D; Boomer, T; Caldwell, S; Dyer, L; Hopkin, RJ; Smolarek, TA. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 2020; 184:294-301.

Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms. Chung, H; Wangler, MF; Marcogliese, PC; Jo, J; Ravenscroft, TA; Zuo, Z; Duraine, L; Sadeghzadeh, S; Li-Kroeger, D; Schmidt, RE; et al. Neuron. 2020; 106:589-606.e6.

Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism. Gupta, A; Dsouza, NR; Zarate, YA; Lombardo, R; Hopkin, R; Linehan, AR; Simpson, J; McCarrier, J; Agre, KE; Gavrilova, RH; et al. European Journal of Medical Genetics. 2020; 63:103817-103817.

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.