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Human Genetics

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Robert Hopkin, MD

Title

Clinical Geneticist

Appointment

Assistant Professor of Clinical Pediatrics, Director of the Genetics Residency Programs at Cincinnati Children's Hospital Medical Center

Email

rob.hopkin@cchmc.org

Phone

513-636-4760

Fax

513-636-7297

Bio

Robert J. Hopkin, M.D. is an assistant professor of clinical pediatrics at Cincinnati Children's Hospital Medical Center. 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.

Credentials

MD: University of Nevada Medical School, Reno, NV, 1990.
Residency: Pediatrics, Phoenix Children's Hospital, Manicopa Medical Center, Phoenix, AZ, 1993; Chief Resident, Pediatrics, Phoenix Children's Hospital, Manicopa Medical Center, Phoenix, AZ, 1994.
Fellowship: Medical Genetics, Cincinnati Children's Hospial Medical Center, Cincinnati, OH, 1997.
Certification: Pediatrics, 1993; Clinical Genetics, 1996.

Awards and Honors

Faculty Teacher of the Year from the Senior Residents of Children's Hospital Medical Center, 2001

Outstanding Medical Research While in Pediatric Residency Training, 1994

Research

  • Fabry disease
  • Robin Sequence
  • 22q11 deletion
  • Neurofibromatosis
  • Craniofacial genetics
  • Chromosomal anomalies

Publications, Most Recent

Moretti P, Peters SU, Del Gaudio D, Sahoo T, Hyland K, Bottiglieri T, Hopkin RJ, Peach E, Min SH, Goldman D, Roa B, Bacino CA, Scaglia F. Brief Report: Autistic Symptoms, Developmental Regression, Mental Retardation, Epilepsy, and Dyskinesias in CNS Folate Deficiency.J Autism Dev Disord 2007; Nov 20: [Epub ahead of print].

Kishnani PS, Corzo D, Nicolino M, Byrne B, Mandel H, Hwu WL, Leslie N, Levine J, Spencer C, McDonald M, Li J, Dumontier J, Halberthal M, Chien YH, Hopkin R, Vijayaraghavan S, Gruskin D, Bartholomew D, der Ploeg AV, Clancy JP, Parini R, Morin G, Beck M, De la Gastine GS, Jokic M, Thurberg B, Richards S, Bali D, Davison M, Worden MA, Chen YT, Wraith JE. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.Neurology 2007;68(2):99-109.

Zarate YA, Kogan JM, Schorry EK, Smolarek TA, Hopkin RJ. A new case of de novo 11q duplication in a patient with normal development and intelligence and review of the literature.Am J Med Genet A 2007;143(3):265-70.

Multhaupt-Buell TJ, Lovell A, Mills L, Stanford KE, Hopkin RJ. Genetic service providers' practices and attitudes regarding adolescent genetic testing for carrier status. Genet Med 2007;9(2):101-107.

Eng CM, Germain DP, Banikazemi M, Warnock DG, Wanner C, Hopkin RJ, Bultas J, Lee P, Sims K, Brodie SE, Pastores GM, Strotmann JM, Wilcox WR. Fabry disease: Guidelines for the evaluation and management of multi-organ system involvement.Genet Med 2006;8:539-548.

Street NJ, Yi MS, Bailey LA, Hopkin RJ. Comparison of health-related quality of life between heterozygous women with Fabry disease, a healthy control population, and patients with other chronic disease.Genetics in Medicine 2006;8:246-253.

Burrow TA, Hopkin RJ, Bove KE, Miles L, Wong BL, Choudhary A, Bali D, Li SC, Chen YT. Non-lethal congenital hypotonia due to glycogen storage disease type IV.Am J Med Genet A 2006;140:878-82.

Cunningham ML, Seto ML, Hing AV, Bull MJ, Hopkin RJ, Leppig KA. Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations.Birth Defects Res A Clin Mol Teratol 2006;76(2):78-85.

White DR, Giambra BK, Hopkin RJ, Daines CL, Rutter MJ. Aspiration in children with CHARGE syndrome.Int J Pediatr Otorhinolaryngol 2005;69(9):1205-9.

Shooner KA, Rope AF, Hopkin RJ, Andelfinger GU, Benson DW. Genetic analyses in two extended families with deletion 22q11 syndrome: importance of extracardiac manifestations.J Pediatr 2005;146(3):382-7.

Invited Publications

Zarate YA, Hopkin RJ. Pediatric quality of life in Anderson Fabry disease: a review. Current Medical Literature 7 (1) 8-15. 2007

Burrow TA, Hopkin RJ, Leslie ND, Tinkle BT, Grabowski GA. Enzyme reconstitution/replacement therapy for lysosomal storage diseases. Curr Opin Pediatr. 2007 Dec;19(6):628-635.

Hopkin R. Genetics and Patterns of Inheritance. in: Cleft Palate and Craniofacial Anomalies: Effects on Speech and Resonance, 2nd Ed. Ann W. Kummer, Ed. Thomson Delmar Learning, Clifton Park, NY 2007

Cragun D, Hopkin RJ. Cytochrome P450 Oxidoreductase Deficiency. In: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. copyright, University of Washington, Seattle, 1997-2005. Available at http://www.genetests.org. posted September 2005

Presentations, Most Recent

Burrow, T.A., Saal, H.M., Hopkin, R.J. High frequency of central nervous system malformations associated with choanal atresia. ASHG San Diego CA Oct. 2007 (International)

Zarate YA, Hopkin RJ. The genetic evaluation of macroglossia. ASHG San Diego CA Oct. 2007 (International)

Kogan JM, Smolarek TA, Hopkin RJ, Grabowski GA. Dissection of apparently balanced translocations using high density SNP arrays. ASHG San Diego CA Oct. 2007 (International)

Hopkin RJ, Simms K. Pediatric Fabry disease: answering the unanswered questions. Lysosomal disease registries meeting Salt Lake City UT May 2007 (National)

Burrow TA, Saal SM, Hopkin RJ. Choanal atresia: Thinking beyond CHARGE syndrome. David W. Smith 28 Annual Workshop on Malformations and Morphogenesis. Williamsburg VA August 2007 (International)

Zarate YA, Hopkin RJ. The genetic evaluation of macroglossia. David W. Smith 28 Annual Workshop on Malformations and Morphogenesis. Williamsburg VA August 2007 (International)

Hopkin RJ, Wood RE, Elluru RG. The respiratory phenotype in survivors with Campomelic dysplasia. David W. Smith 28 Annual Workshop on Malformations and Morphogenesis. Williamsburg VA August 2007 (International)

Cragun, D, Hopkin, RJ. A Mutation in SOS1 as a Cause of Enlarged Nerve Roots and Peripheral Neuropathy in Noonan Syndrome? American College of Medical Genetics annual meeting Nashville, TN March 2007 (international)

Hopkin RJ, Kline-Fath B, Crombleholme T, Bender P, Rothchild D, Peach E, Elluru R, Willging JP, Gordon C, Saal HM. Prenatal imaging for the diagnosis of Robin Sequence and associated anomalies. American College of Medical Genetics annual meeting Nashville TN March 2007 (international)

Zarate YA, Hopkin RJ Unusual presentation of linear nevus syndrome ASHG New Orleans October 2006 (International)

Burrow TA, Walker M, Hopkin RJ Milroy disease: prenatal diagnosis and phenotype variability in a family. ASHG New Orleans October 2006 (International)

Hopkin RJ, Saal HM, Rutter MJ, Hubbell R, Cotton R, Lindor MN, Holmes L, Lin AE. LAPS syndrome: 4 additional patients with emphasis on major morbidity and life threatening complications. David W. Smith 27 Annual Workshop on Malformations and Morphogenesis. Lake Arrowhead, CA September 2006 (International)

Saal HM, Kline-Fath B, Crombleholme T, Bender P, Rothchild D, Peach E, Elluru R, Willging JP, Gordon C, Hopkin RJ. The role of fetal MRI for diagnosis and management of fetal micrognathia and Pierre Robin sequence David W. Smith 27 Annual Workshop on Malformations and Morphogenesis. Lake Arrowhead, CA September 2006 (International)

Burrow TA, Walker M, Hopkin RJ. Milroy disease: prenatal diagnosis and phenotype variability in a family. David W. Smith 27 Annual Workshop on Malformations and Morphogenesis. Lake Arrowhead, CA September 2006 (International)

Hopkin RJ. Workshop Session: Fabry: Management of Early Disease Symptoms among Patients with Fabry Disease. 10th Annual LSD registries meeting Orlando Florida May 2006 (International)

Hopkin RJ, Cragun D. Craniosynostosis as a new feature in van den Ende-Gupta syndrome. ACMG annual meeting San Diego CA March 2006 (International)

Walker ME, Schorry EK, Bove KE, Das S, Hopkin RJ, Wong BL. A novel MTM1 gene mutation in an infant with X-linked myotubular myopathy and bladder exstrophy. ACMG annual meeting San Diego CA March 2006 (International)

Saal HM, Bao L, Schorry EK, Hopkin RJ, Leslie ND, Smolarek TA. Paucity of primary identification of new cryptic subtelomere rearrangements with subtelomere FISH: a three year retrospective analysis. ASHG annual meeting Salt Lake City Utah October 2005 (International)

Hopkin RJ, White DR, Giambra BK, Daines CL, Rutter MJ. Aspiration and airway obstruction in CHARGE syndrome. ASHG annual meeting Salt Lake City Utah October 2005 (International)

Reiter-Purtill J, Schorry EK, Hopkin RJ, Vannatta K, Lovell A, Gerhardt C, Moore B, Noll RB. Peer Relationships in neurofibromatosis 1. ASHG annual meeting Salt Lake City Utah October 2005 (International)

Scaglia F, Moretti P, Peters S, Del Gaudio D, Hyland K, Bottiglieri T, Hopkin R, Peach E, Roa B, Bacino C, Clinical and genetic characterization of central nervous system folate deficiency. ASHG annual meeting Salt Lake City Utah October 2005 (International)

Zhao H, Saal HM, Hopkin RJ. Major malformations in Bloom syndrome. David W. Smith 26th Annual Workshop on Malformations and Morphogenesis. Iowa City , Iowa August 2005 (international)

Burrow A, Hopkin R, Bove K, Miles L, Wong B, Choudhary A, Bali D, Li SC, Chen YT. A mild congenital hypotonia and myopathy of glycogen storage disease type IV. David W. Smith 26th Annual Workshop on Malformations and Morphogenesis. Iowa City , Iowa August 2005 (international)

Rope A, Saal HM, Hopkin RJ. An attempt at guidelines for FISH 22q11.2 derived from 6 years of testing experience. David W. Smith 26th Annual Workshop on Malformations and Morphogenesis. Iowa City , Iowa August 2005 (international)

Saal HM, Bao L, Schorry EK, Hopkin RJ, Leslie ND, Smolarek T. Paucity of primary identification of new cryptic subtelomere rearrangements with subtelomere FISH: a three year retrospective analysis. David W. Smith 26th Annual Workshop on Malformations and Morphogenesis. Iowa City , Iowa August 2005 (international)

Kogan J, Zenker M, Vandevoorde R, Hopkin RJ. Prolonged survival in Pierson syndrome. David W. Smith 26th Annual Workshop on Malformations and Morphogenesis. Iowa City , Iowa August 2005 (international)

Hopkin RJ. Treatment decisions in MPS I case discussion. 2nd Annual MPS I Symposium Phoenix AZ. May 20, 2005 (international)

Clarke LA, Barranger J, Hopkin R, Eng CM, Pastores G, Scott CR, Sims K, Wilcox W. Fabry disease presenting in the pediatric age group: clinical and ethical concerns. PAS 2005 (International)

Clarke LA, Barranger J, Hopkin R, Eng CM, Pastores G, Scott CR, Sims K, Wilcox W. Fabry disease presenting in the pediatric age group: clinical and ethical concerns. ACMG March 2005 (International)

Professional Organization Memberships

Special Interests

  • Fabry disease and other Lysosomal storage disease
  • Craniofacial genetics
  • Clinical intervention for genetic disease
  • Neurofibromatosis
  • Dysmorphology
  • Prenatal diagnosis of genetic syndromes