Human Genetics
Robert Hopkin, MD
Title
Associate Professor
Appointment
Associate 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
Guimareas CV Linam LE, Kline-Fath BM, Donnelly LF, Calvalo-Garcia MA, Rubio EI, Livingston JC, Hopkin RJ, Peach E, Lim FY, Crombleholme TM. 2009. Prenatal MRI findings of fetuses with congenital high airway obstruction sequence. Korean J. Radiol. 10:129-134.
Zarate YA, Pacheco MC, Bove KE, Gorlin R, Zhao H, Hopkin RJ. 2009. Phenotypic and microscopic description of a new case of Ermine phenotype. AM J Med Genet A 149A:1253-6.
Kenny AP, Crimmins NA, Mackay DJ, Hopkin RJ, Bove KE, Leonis MA. 2009. Concurrent Course of Transient Neonatal Diabetes with Cholestasis and Paucity of Interlobular Bile Ducts: A Case Report. Pediatr Dev Pathol. 26:1.
Burrow TA, Saal HM, de Alarcon A, Martin LJ, Cotton RT, Hopkin RJ. 2009. Characterization of congenital anomalies in individuals with choanal atresia. Arch Otolaryngol Head Neck Surg. 135(6):543-7.
Zarate YA, Hopkin RJ. 2009. Twin-twin transfusion resulting in fetal cell contamination in Beckwith-Wiedemann syndrome. Am J Med Genet A. 149A:1569-70.
Rope AF, Cragun DL, Saal HM, Hopkin RJ. 2009. DiGeorge Anomaly in the Absence of Chromosome 22q11.2 Deletion. J Pediatr. 2009;155(4):560-565.
Zarate YA, Mena R, Martin LJ, Steele P, Tinkle BT, Hopkin RJ. 2009. Experience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillance protocol. Am J Med Genet A. 2009;149A(8):1691-1697.
Cragun D, Hopkin RJ (updated August 2009) Cytochrome P450 Oxidoreductase
Deficiency in: GeneReviews/ /at GeneTests: Medical Genetics Information
Resource [database online].
Morris LM, Lim FY, Elluru RG, Hopkin RJ, Jaekle RK, Polzin WJ, Crombleholme TM. 2009.
Severe Micrognathia: Indications for EXIT-to-Airway.Fetal Diagn Ther.. [Epub ahead of print]
Zarate YA, Patterson L, Yin H, Hopkin RJ. A case of minimal change disease in a fabry patient. Pediatr Nephrol. 2009 Oct 30. [Epub ahead of print]
Zarate YA, Hopkin RJ. Fabry Disease. Lancet (2008) 372:1427-35.
Hopkin RJ, Bissler J, Banikazemi M, Clarke L, Eng CM, Germain DP, Lemay R, Tylki-Szymanska A, Wilcox WR. Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry. Pediatr Res. 2008 Jun 25.
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. 2008 Jul;38(6):1170-7
Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, Feldt-Rasmussen U, Sims K, Waldek S, Pastores GM, Lee P, Eng CM, Marodi L, Stanford KE, Breunig F, Wanner C, Warnock DG, Lemay RM, Germain DP, Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.Fabry Registry. 2008 Feb;93(2):112-28
Hopkin RJ, Grabowski GA. Lysosomal storage diseases. Harrison’s Principles of Internal Medicine, 17e McGraw-Hill Medical. New York 2008.
Zarate YA, Hopkin RJ. Pediatric quality of life in Anderson - Fabry disease: a review. Current medical literature / Lysosomal storage diseases 2007;7:8-15.
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):628-35.
Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, Feldt-Rasmussen U, Sims K, Waldek S, Pastores GM, Lee P, Eng CM, Marodi L, Stanford KE, Breunig F, Wanner C, Warnock DG, Lemay RM, Germain DP.Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry. Mol Genet Metab. 2008 Feb;93(2):112-28.
Sutherell J, Zarate Y, Tinkle BT, Markham LW, Cripe LH, Hyland JC, Witte D, Hopkin RJ, Hinton RB. Novel Fibrillin 1 Mutation in a Case of Neonatal Marfan Syndrome: The Increasing Importance of Early Recognition. Congenit Heart Dis. 2007;2:342-346.
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]
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)
Professional Organization Memberships
Abstracts
Spaeth CG, Rubio E, Hopkin RJ. Utility of Fetal MRI in the Diagnosis and Management over a Spectrum of Genetic Syndromes: Case Series, as a Contributed Paper at the NSGC 28th Annual Education Conference in Atlanta, Georgia 2009
Hopkin RJ, Bissler J, Banikazemi M, Clarke L, Eng CM, Germain DP, Lemay R, Tylki-Szymanska A, Wilcox WR. Substantial Signs and Symptoms of Fabry Disease Among Children: Natural History Data from 352 Pediatric Patients in the Fabry Registry European Round Table on Fabry disease 2009 (International)
Prada CE, Zarate YA, Schorry EK, HopkinRJ. Severe Presentation of Neurofibromatosis and Noonan Syndrome. Poster American Collage of Medical Genetics Meeting. March 2009
Hopkin RJ, Prada C Lovell A, Schorry E, Cragun D. Neurofibromatosis and Noonan syndrome: on the overlapping phenotypes. David W. Smith 30 Annual Workshop on Malformations and Morphogenesis. Philadelphia PA 2009
Prada C. Hopkin RJ. Severe prenatal cervical scoliosis in the fetus: prenatal diagnosis, prognosis and outcome. David W. Smith 30 Annual Workshop on Malformations and Morphogenesis. Philadelphia PA 2009
Hopkin RJ. Fabry disease. Genzyme Registries Southeast Regional Meeting. Baltimore MD 2009
Special Interests
- Fabry disease and other Lysosomal storage disease
- Craniofacial genetics
- Clinical intervention for genetic disease
- Neurofibromatosis
- Dysmorphology
- Prenatal diagnosis of genetic syndromes
