Publications by authors named "Robert Hopkin"

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Long-term efficacy of migalastat in females with Fabry disease.
Staci Kallish, Antonia Camporeale, Robert J Hopkin, Ana Jovanovic, Peter Nordbeck

J Med Genet· November 2025

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A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines.
Susan M White, Annelotte P Wondergem, Isa Breet, Maren Dittmaier, Katrina Bell, Robert J Hopkin

Eur J Hum Genet· October 2025

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Emerging role of complement system in the induction of neuroinflammation in adenylosuccinate lyase deficiency disorder.
Albert Frank Magnusen, Robert James Hopkin, Charles Vorhees, Elizabeth Wilson, Molly Moehlman

Brain Behav Immun Health· October 2025

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Fabry disease in females: organ involvement and clinical outcomes compared with the general population (103/150 characters).
Robert J Hopkin, Dawn Laney, Sean Kazemi, Angela Walter

Orphanet J Rare Dis· August 2025

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Research Review of Myhre Syndrome.
Maggie R Brand, Ryan Monsberger, Robert J Hopkin, Angela E Lin

Am J Med Genet C Semin Med Genet· June 2025

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A Case Study of a Female Infant With Primary Hypertrophic Osteoarthropathy Demonstrates That Early Initiation of Celecoxib Slows but Does Not Prevent Symptom Progression.
Kara Zehr, Morgan Buckley, Joshua W Owens, Tomas Vanagunas, Patricia Vega Fernandez, Robert J Hopkin

Am J Med Genet A· May 2025

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Safety and efficacy of migalastat in adolescent patients with Fabry disease: Results from ASPIRE, a phase 3b, open-label, single-arm, 12-month clinical trial, and its open-label extension.
Uma Ramaswami, Esperanza Font-Montgomery, Ozlem Goker-Alpan, Damara Ortiz, Amarilis Sanchez-Valle, Robert J Hopkin

Mol Genet Metab· May 2025

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The phenotypic spectrum of the Cornelia de Lange-like "Alazami-Yuan syndrome": A case report of the 7th diagnosed individual and review of the literature.
Annie Pappas, Mary Mooney, Katherine Kohnen, Joshua W Owens, Wenying Zhang, Robert J Hopkin

Clin Case Rep· May 2025

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Dual Diagnosis of Fragile X Syndrome and DEPDC5-Related Disorder Emphasizes DEPDC5's Role Beyond Familial Epilepsy: A Case Report and Literature Review.
Rory Edwards, Grace Murphy, Joshua W Owens, Craig Erickson, Robert Hopkin

Case Rep Genet· April 2025

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A Dual Diagnosis of Okur-Chung Neurodevelopmental Syndrome and Becker Muscular Dystrophy: Inquiry Into the Lower Limits of Neurodevelopmental Functioning Attributable to Muscular Dystrophy.
Victoria Liu, Eva Hanson, Joshua W Owens, Robert J Hopkin, Amelle Shillington

Brain Behav· February 2025

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Guidance for shared decision-making regarding orchiectomy in individuals with differences of sex development due to 17-β-hydroxysteroid dehydrogenase type 3 deficiency.
Lissa X Yu, Jodie Johnson, Christine M Pennesi, Michelle M Ernst, Andrew Strine, Robert J Hopkin

Front Pediatr· February 2025

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Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome.
Jenny P Garzon, Andrea Patete, Lindsey Aschbacher-Smith, Dima Qu'd, Geraldine Kelly-Mancuso, Robert J Hopkin

Am J Med Genet C Semin Med Genet· December 2024

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Listening to patients with suspected genetic diagnoses: A narrative perspective.
Robert B Slocum, Anna C E Hurst, Ellis Shelley, Lisa Berry, Robert J Hopkin

Am J Med Genet C Semin Med Genet· November 2024

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and variants are the underlying cause of Perrault-like syndrome and cardiac anomalies in a patient.
Xiaoli Du, Cara L Barnett, Kimberly M Widmeyer, Xinjian Wang, Diana S Brightman, Robert J Hopkin

Clin Case Rep· November 2024

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Complex genomic rearrangements of the Y chromosome in a premature infant.
Stephanie A Balow, Alyxis G Coyan, Nicki Smith, Bianca E Russell, Danielle Monteil, Robert J Hopkin

Mol Cytogenet· August 2024

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Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study.
Eric L Wallace, Ozlem Goker-Alpan, William R Wilcox, Myrl Holida, John Bernat, Robert J Hopkin

J Med Genet· May 2024

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Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies.
Carolyn R Serbinski, April Vanderwal, Sarah E Chadwell, Ana Isabel Sanchez, Robert J Hopkin

Am J Med Genet A· February 2024

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Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology.
Joshua W Owens, Robert J Hopkin, Lisa J Martin, Andrew Kodani, Brittany N Simpson

Ann Hum Genet· January 2024

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RNA sequencing reveals a complete picture of a homozygous missense variant in a patient with VPS13D movement disorder: a case report and review of the literature.
Elizabeth K Baker, Jingfen Han, William A Langley, Michael A Reott, Barbara E Hallinan, Robert J Hopkin

Mol Genet Genomics· September 2023

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Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study.
Daniel G Bichet, Robert J Hopkin, Patrício Aguiar, Sridhar R Allam, Yin-Hsiu Chien

Front Med (Lausanne)· September 2023

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Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Maninder Kaur, Justin Blair, Batsal Devkota, Sierra Fortunato, Dinah Clark, Robert J Hopkin

Am J Med Genet A· August 2023

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Global reach of over 20 years of experience in the patient-centered Fabry Registry: Advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry community.
Christoph Wanner, Alberto Ortiz, William R Wilcox, Robert J Hopkin, Jack Johnson

Mol Genet Metab· July 2023

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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, Robert J Hopkin

Mol Genet Metab· April 2023

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Congenital Hypothyroidism: Screening and Management.
Susan R Rose, Ari J Wassner, Kupper A Wintergerst, Nana-Hawa Yayah-Jones, Robert J Hopkin

Pediatrics· January 2023

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Congenital Hypothyroidism: Screening and Management.
Susan R Rose, Ari J Wassner, Kupper A Wintergerst, Nana-Hawa Yayah-Jones, Robert J Hopkin

Pediatrics· January 2023

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