Dr. Robert Hopkin, MD

• Genetics

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• University Of Phoenix / Northern California Campus

  Medical School, 1993

• De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder, 2018-05-08

• Mandibulofacial dysostosis with microcephaly: an expansion of the phenotype via parental survey, 2020-11-27

• The Genomic Landscape of Balanced Cytogenetic Abnormalities Associated with Human Congenital Anomalies, 2016-11-14

• Molecular analysis expands the spectrum of phenotypes associated withGLI3mutations, 2010-08-02

• The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1, 2015-07-29

• Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study, 2023-09-01

• Hyperinsulinemic Hypoglycemia in Seven Patients withde novo NSD1Mutations, 2019-02-04

• Novel parent-of-origin-specific differentially methylated loci on chromosome 16, 2019-04-08

• Characterization of Early Disease Status in Treatment-Naive Male Paediatric Patients with Fabry Disease Enrolled in a Randomized Clinical Trial, 2015-05-08

• Targeting the Complement-Sphingolipid System in COVID-19 and Gaucher Diseases: Evidence for a New Treatment Strategy, 2022-11-18

• Consolidation of the clinical and genetic definition of aSOX4-related neurodevelopmental syndrome, 2022-03-01

• Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via Newborn Screening: The benefits of early treatment with enzyme replacement therapy and immune tolerance induction, 2021-01-25

• Alu-Element Insertion inPKLRGene as a Novel Cause of Pyruvate Kinase Deficiency in Middle Eastern Patients, 2018-01-11

• Development of the Fabry Disease Patient-Reported Outcome (FD-PRO): a new instrument to measure the symptoms and impacts of Fabry Disease, 2021-06-25

• Concurrent Course of Transient Neonatal Diabetes with Cholestasis and Paucity of Interlobular Bile Ducts: A Case Report, 2010-07-07

• Homozygous missense variant inBMPR1Aresulting in BMPR signaling disruption and syndromic features, 2019-09-07

• Disruptive variants ofCSDE1associate with autism and interfere with neuronal development and synaptic transmission, 2019-09-25

• XY Gonadal Dysgenesis in a Phenotypic Female Identified by Direct-to-Consumer Genetic Testing, 2020-10-15

• Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines, 2021-05-10

• Defects of B Cell Terminal Differentiation in Patients with Type-1 Kabuki Syndrome, 2015-07-17

• Clinical Utility of Whole-Exome Sequencing in Rare Diseases: Galactosialidosis, 2014-04-24

• Early-Lethal Costello syndrome due to rareHRAStandem base substitution (c.35_36GC>AA; p.G12E) associated pulmonary vascular disease, 2014-08-18

• A Novel DominantCOL11A1Mutation Resulting in a Severe Skeletal Dysplasia, 2014-08-04