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Office
3333 Burnet Ave
Ml 4006
Cincinnati, OH 45229Phone+1 513-636-4760Fax+1 513-636-7297- Is this information wrong?
Summary
- My key interests include: Diagnosis and management of rare diseases, clinical trials, lysosomal disease, differences in sexual development, prenatal and fetal diagnostics, and medical education
Education & Training
- Cincinnati Children's Hospital Medical CenterResidency, Medical Genetics and Genomics, 1994 - 1997
- Phoenix Children's HospitalResidency, Pediatrics, 1990 - 1994
- University of Nevada, Reno School of MedicineClass of 1990
- Brigham Young UniversityB.S., Zoology, 1986
Certifications & Licensure
- KY State Medical License 2021 - 2025
- OH State Medical License 1994 - 2024
- AZ State Medical License 1993 - 1994
- American Board of Pediatrics Pediatrics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Awards, Honors, & Recognition
- Teacher of the year Cincinnati Children's Hospital Medical Center, 2001
- Outstanding Medical Research While in Pediatric Residency Training 1994
Publications & Presentations
PubMed
- 2 citationsPrevalence of lymphedema among Anderson-Fabry disease patients: A report from the Fabry registry.Deya Alkhatib, Jesus Avila Vega, Issa Pour-Ghaz, Omar Al-Taweel, Sania Khan, Kimberly DeCarr, Anandbir Bath, Aranyak Rawal, David Wilbanks, Joel Raja, Asra Butt, Neera...> ;Molecular Genetics and Metabolism. 2023 Apr 1
- 5 citationsLong-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes.Derralynn A Hughes, Daniel G Bichet, Roberto Giugliani, Robert J Hopkin, Eva Krusinska, Kathleen Nicholls, Iacopo Olivotto, Ulla Feldt-Rasmussen, Norio Sakai, Nina Sku...> ;Journal of Medical Genetics. 2023 Jul 1
- 4 citationsClinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry.Robert J Hopkin, Gustavo H Cabrera, John L Jefferies, Meng Yang, Elvira Ponce, Eva Brand, Ulla Feldt-Rasmussen, Dominique P Germain, Nathalie Guffon, Ana Jovanovic, Il...> ;Molecular Genetics and Metabolism. 2023 Feb 1
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Journal Articles
- Cardiopulmonary Fitness Assessment on Maximal and Submaximal Exercise Testing in Patients with Fabry DiseaseJohn L Jefferies, Clifford Chin, Robert J Hopkin, Adam W Powell, American Journal of Medical Genetics Part A
- Keutel syndrome: Report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritisWeaver KN, El Hallek M, Sund KL, Henrickson M, Del Gaudio D, Yuksel A, Acar GO, Bober MB, Kim J, Boyadjiev SA, Am J Med Genet A, 1/1/2014
- Delineating the phenotype of 1p36 deletion in adolescents and adultsBrazil A, Stanford K, Smolarek T, Am J Med Genet A, 1/1/2014
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Books/Book Chapters
Abstracts/Posters
- Two Cases of Maternal UPD(16) : Phenotypic Evidence of an Imprinting Disorder Affecting Chromosome 16Lesmana H, Dyer L, Smolarek TA, ACMG, 1/1/2015
- Improving Adherence to the Health Supervision Guidelines for Children with Down SyndromeStephanie Santoro, Lisa J. Martin, Stephen I. Pleatman, ACMG, 1/1/2015
- Case Study: Phenotypic evidence for skewed X-inactivation in two siblings with an unbalanced X;22 translocationBalow SA, Lesmana H, Leslie ND, Smolarek T, ACMG, 1/1/2015
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Press Mentions
- Sangamo Therapeutics Announces Evidence of Clinical Benefit in Phase 1/2 STAAR Study in Fabry DiseaseFebruary 22nd, 2023
- Protalix’s Phase III Asset for Fabry Could Struggle to Demonstrate Superiority over Fabrazyme but Immunogenicity Benefits Support Regulatory Chances, Experts SayFebruary 5th, 2021
- Sangamo Therapeutics Announces Updated Phase 1/2 STAAR Study Data in Fabry Disease Showing Sustained Benefit and Differentiated Safety ProfileFebruary 6th, 2024
Other Languages
- French
Hospital Affiliations
- Cincinnati Children's Hospital Medical CenterCincinnati, Ohio
- Christ HospitalCincinnati, Ohio
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