RobertJHopkinMDFAAP, FACMGG

PubMed

• 9 citations
  Long-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
  Journal of Medical Genetics. 2023-07-01
• 2 citations
  Prevalence 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
  Molecular Genetics and Metabolism. 2023-04-01
• 15 citations
  Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 stud...
  Patrick B Deegan, Ozlem Goker-Alpan, Tarekegn Geberhiwot, Robert J Hopkin, Elena Lukina
  Molecular Genetics and Metabolism. 2023-02-01

Journal Articles

• Cardiopulmonary Fitness Assessment on Maximal and Submaximal Exercise Testing in Patients with Fabry Disease  
  John L Jefferies, Clifford Chin, Robert J Hopkin, Adam W Powell, American Journal of Medical Genetics Part A
• Delineating the phenotype of 1p36 deletion in adolescents and adults  
  Brazil A, Stanford K, Smolarek T, Am J Med Genet A, 1/1/2014
• Keutel syndrome: Report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis  
  Weaver 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
• Fractures in children with neurofibromatosis type 1 from two NF clinics  
  George-Abraham JK, Martin LJ, Kalkwarf HJ, Rieley MB, Stevenson DA, Viskochil DH, Stevens AM, Hanson H, Schorry EK, Am J Med Genet A, 1/1/2013
• Variable presentation between a mother and a fetus with Goltz syndrome  
  Sellars EA, Wusik K, Weaver KN, Prenat Diagn, 1/1/2013
• Cincinnati Regional Incidence, Morbidity, and Mortality of Neonatal Foregut Defects and High Coincidence with Cardiovascular Malformations  
  AP Kenny, M Tabangin, E Hall, K Woodrooffe, W Lai, J Meinzen-Derr, JM Greenberg, J Neonatal Biol, 1/1/2013
• Early Spinal Cord and Brainstem Involvement in Infantile Leigh Syndrome Possibly Caused by a Novel Variant  
  Tenney JR, Prada CE, Hallinan BE, J Child Neurol, 1/1/2013
• Renal complications of Fabry disease in children  
  Najafian B, Mauer M, Svarstad E, Pediatr Nephrol, 1/1/2013
• Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa  
  van der Ploeg AT, Barohn R, Carlson L, Charrow J, Clemens PR, Kishnani PS, Laforêt P, Morgan C, Nations S, Pestronk A, Plotkin H, Rosenbloom BE, Sims KB, Tsao E, Mol Genet Metab, 1/1/2012
• Implications for genotype-phenotype predictions in Townes-Brocks syndrome: Case report of a novel SALL1 deletion and review of the literature  
  Miller EM, Bao L, Ware SM, Am J Med Genet A, 1/1/2012
• Posterior fossa anomalies diagnosed with fetal MRI: Associated anomalies and neurodevelopmental outcomes  
  Patek KJ, Kline-Fath BM, Pilipenko VV, Crombleholme TM, Spaeth CG, Prenat Diagn, 1/1/2012
• The development and implementation of an in-service exam for medical genetics residency programs  
  Robin NH, Reid Sutton V, Caldwell J, Jackson J, Irons M, Demmer L; Members of in-service exam subcommittees (including Hopkin RJ as chair of the subcommittee on dysmor..., Genet Med, 1/1/2012
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  George-Abraham JK, Zimmerman SL, Hinton RB, Marino BS, Witte DP, Am J Med Genet A, 1/1/2012
• Recurrent pancreatitis in ornithine transcarbamylase deficiency  
  Prada CE, Kaul A, Page KI, Nathan JD, Bartholomew DW, Cohen MB, Heubi JE, Leslie ND, Burrow TA, Mol Genet Metab, 1/1/2012
• Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy  
  Forsha D, Li JS, Smith PB, van der Ploeg AT, Kishnani P, Pasquali SK; Late-Onset Treatment Study Investigators, Genet Med, 1/1/2011
• Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy  
  Diggle CP, Carr IM, Zitt E, Wusik K, Prada CE, Calabrese O, Rittinger O, Punaro MG, Markham AF, Bonthron DT, Rheumatology, 1/1/2010
• Evaluation of growth in patients with isolated cleft lip and/ or cleft palate  
  Zarate YA, Martin LJ, Bender PL, Zhang X, Saal HM, Pediatrics, 1/1/2010
• A case of minimal change disease in a fabry patient  
  Zarate YA, Patterson L, Yin H, Pediatr Nephrol, 1/1/2010
• Prenatal MRI findings of fetuses with congenital high airway obstruction sequence  
  Guimareas CV Linam LE, Kline-Fath BM, Donnelly LF, Calvalo-Garcia MA, Rubio EI, Livingston JC, Peach E, Lim FY, Crombleholme TM, Korean J. Radiol., 1/1/2009
• Experience with hemihyperplasia and Beckwith–Wiedemann syndrome surveillance protocol  
  Zarate YA, Mena R, Martin LJ, Steele P, Tinkle BT, Am J Med Genet Part A, 1/1/2009
• Severe Micrognathia: Indications for EXIT-to-Airway  
  Morris LM, Lim FY, Elluru RG, Jaekle RK, Polzin WJ, Crombleholme TM, Fetal Diagn Ther, 1/1/2009
• Prenatal diagnosis: beyond decisions about termination  
  Mattheis PJ, Hickey F, Tinkle BT, J. Pediatr., 1/1/2008
• Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry  
  Wilcox WR, Oliveira JP, 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,..., Mol Genet Metab, 1/1/2008
• Fabry Disease  
  Zarate YA, Hopkin RJ, Lancet, 1/1/2008
• Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease  
  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, Vijayaraghavan S, Gr..., Neurology, 1/1/2007
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Books/Book Chapters

• Cleft Palate and Craniofacial Anomalies: Effects on Speech and Resonance 
  Chapter: Genetics and Patterns of Inheritance 
  Hopkin REditors: Ann W. Kummer.Thomson Delmar Learning, Clifton Park, NY2007
• NORD Guide to Rare Disorders 
  Chapter: Pierre Robin Sequence 
  Page 235 - 236Prows CA, Hopkin RJLippincot Williams & Wilkins, Philadelphia, PA2003
• Harrison’s Principles of Internal Medicine 
  Chapter: Lysosomal storage diseases 
  Grabowski GA, Hopkin RJMcGraw-Hill Professional, New YorkEdition 16th,2003
• Cleft palate and craniofacial anomalies effects on speech and resonance 
  Chapter: Genetics and patterns of inheritance 
  Page 33 - 50Hopkin RJEditors: Ann W.Singular Thomson Learning, Canada2000
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Abstracts/Posters

• Two Cases of Maternal UPD(16) : Phenotypic Evidence of an Imprinting Disorder Affecting Chromosome 16
  Lesmana H, Dyer L, Smolarek TA, ACMG, 1/1/2015
• Improving Adherence to the Health Supervision Guidelines for Children with Down Syndrome
  Stephanie 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 translocation
  Balow SA, Lesmana H, Leslie ND, Smolarek T, ACMG, 1/1/2015
• Acrofacial dysostosis, Cincinnati-type: A novel human acrofacial dysostosis caused by POLR1A dysfunction
  KN Weaver, KE Noack Watt, RB Hufnage, J Navajas Acedo, LL Linscott, KL Sund,PL Bender, R König, CM Lourenco, U Hehr, DR Lohmann, PA Trainor, D. Wieczorek, HM Saal, ACMG, 1/1/2015
• Risk Factors for Serious Clinical Events and the Incidence of These Events in Male and Female Patients with Fabry Disease Treated with Agalsidase Beta
  Gustavo Cabrera, Joel Charrow, Roberta Lemay, Ana Maria Martins, Michael Mauer, Alberto Ortiz, Manesh R. Patel, Katherine Sims, Stephen Waldek, David G. Warnock, Willi..., WORLD LDN, 1/1/2015
• Effect of Enzyme Replacement Therapy on Airway Abnormalities in Patients with Hunter Syndrome
  Robert Wood, Connie Wehmeyer, Laurie Bailey, WORLD LDN, 1/1/2015
• Sustainability and Impact of a Multifaceted Genetics Education Program for Nurses
  C Hetteberg, A Reponen, M Barve, C Prows, ACMG, 1/1/2014
• Hematologic Disease in mosaic Down syndrome
  Stephanie Santoro, Lisa Martin, ACMG, 1/1/2014
• Female Fabry Disease: Significant Improvement of Fabry disease-related gastrointestinal symptoms in a large cohort of female patients treated with agalsidase beta (Fab...
  William R. Wilcox, Ulla Feldt-Rasmussen, Anna Maria Martins, Alberto Ortiz, Frank Weidemann, Roberta M. Lemay, WORLD, 1/1/2014
• Impact of Plexiform Neurofibromas on Adult Patients with Neurofibromatosis type 1
  Sarah Stueber, Elizabeth Schorry, Lisa Martin, Katie Wusik, NSGC, 1/1/2014
• Pena-Shokeir Phenotype/ Fetal Akinesia Deformation Sequence: From Placenta to Secondary Myopathy
  Dehua Wang, Emily King, Lili Miles, Maria A Calvo-Garcia, Jerzy Stanek, IFPA, 1/1/2014
• A new mandibulofacial dysostosis syndrome caused by a mutation of POLR1A
  KN Weaver, KE Noack Watt, KL Sund, RB Hufnagel, T Bender, DR Lohmann, D. Wieczorek, PA Trainor, HM Saal, David W. Smith 35th annual Workshop on Malformations and Morphogenesis, 1/1/2014
• Trisomy 9 mosaicism should be a diagnostic consideration in CHARGE association
  Jennifer E. Glass, Teresa A. Smolarek, Howard M. Saal, David W. Smith 35th annual Workshop on Malformations and Morphogenesis, 1/1/2014
• Maternal UPD(16) with IUGR, transient neonatal hypoglycemia and cholestasis
  Harry Lesmana, Robert Hopkin, ASHG, 1/1/2014
• A Randomized, Multicenter, Multinational, Phase 3B, Open-Label, Parallel-Group Study of Agalsidase Beta in Treatment-Naive Male Pediatric Patients with Fabry Disease W...
  Frits A. Wijburg, Bernard Bénichou, Daniel G. Bichet, Gabriela Dostalova, Lorne Clarke, Alejandro Fainboim, Andreas Fellgiebel, Cassiano Forcelini, Kristina An Haack, ..., WORLD, 1/1/2013
• Early initiation of agalsidase beta treatment is associated with fewer clinical events in women with Fabry disease: data from the Fabry Registry
  Michael Mauer, Roberta Lemay, Jose Ortiz, Katherine B. Sims, Stephen Waldek, WORLD, 1/1/2013
• Evaluation of Agalsidase Beta specific serum IgE in patients with Fabry Disease
  Clay CD,Wehmeyer C, et al, Annals of Allergy Asthma & Immunology, 1/1/2013
• Children with 22q11.2 Deletion Syndrome (Velocardiofacial Syndrome) Experience Increased Medical Interventions Compared to Peers
  Emily King, Bettsy Leech, Howard Saal, Kevin Stanford, ACMG, 1/1/2013
• Non-syndromic holoprosencephaly in two siblings: Molecular diagnosis and management
  Bous, SM, Smith, DL, Kline-Fath, B, ACMG, 1/1/2013
• Further Delineation of 1p36 Deletion Syndrome in Adolescents and Adults
  Brazil A, Stanford K, Smolarek T, NSGC Meeting, 1/1/2013
• Benefits of Genetic Counseling for Parents who have Adopted a Child with Duchenne or Becker Muscular Dystrophy
  Gladstone A, Peay H, Lander J, Wong B, Walker M, NSGC Meeting, 1/1/2013
• Challenges to nondirective genetic counseling in the prenatal setting: a case report of multiple anomalies in the fetus
  Scott J, Smith N, NSGC Meeting, 1/1/2013
• 1p36 Deletion Syndrome in Adolescents and Adults
  Brazil A, Stanford K, Smolarek T, David W. Smith 34th annual Workshop on Malformations and Morphogenesis, 1/1/2013
• The impact of fetal MRI on the prenatal diagnosis of skeletal dysplasias
  Weaver KN, Johnson J, Kline-Fath B, Zhang X, Lim F, Tinkle B, Saal HM, David W. Smith 34th annual Workshop on Malformations and Morphogenesis, 1/1/2013
• A novel dominant COL11A1 mutation with a sub-lethal fibrochondrogenesis phenotype
  Bous SM, Weaver KN, Bader PI, Johnson K, Hegde RS, Schorry EK, David W. Smith 34th annual Workshop on Malformations and Morphogenesis, 1/1/2013
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Other

• Cytochrome P450 Oxidoreductase Deficiency 
  Cragun D, Hopkin RJ, GeneReviews at GeneTests: Medical Genetics Information Resource
  1/1/2005