Associate Professor, Pediatrics, University of Cincinnati College of Medicine
Medical Genetics
Dr. Robert J. Hopkin, MD
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Doctor Robert J. Hopkin, MD is an expert in the field of Medical Genetics. He researched medicine at University of Nevada School of Medicine. University of Nevada School of Medicine has a rank of 88 in research and a 0 in primary care He over the years received 2 awards: "Teacher of the Year" and "Outstanding Medical Research While in Pediatric Residency Training". Robert Hopkin is a published physician as well. He has 66 publications published. The latest was: Time to treatment benefit for adult patients with Fabry disease receiving agalsidase : data from the Fabry Registry. He accepts all Medicare patients.
Publications
- The management and treatment of children with Fabry disease: A United States-based perspective.
- Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia.
- Predictive value of fetal lung volume in prenatally diagnosed skeletal dysplasia.
- Neurological and cardiac responses after treatment with miglustat and a ketogenic diet in a patient with Sandhoff disease.
- Cost Analysis of Mandibular Distraction versus Tracheostomy in Neonates with Pierre Robin Sequence.
- A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia.
- Fabry disease in infancy and early childhood: a systematic literature review.
- Delineating the phenotype of 1p36 deletion in adolescents and adults.
- Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.
- Keutel syndrome: Report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis.
- Early spinal cord and brainstem involvement in infantile leigh syndrome possibly caused by a novel variant.
- Variable presentation between a mother and fetus with Goltz syndrome.
- Fabry Disease Practice Guidelines: Recommendations of the National Society of Genetic Counselors.
- Renal complications of Fabry disease in children.
- Fractures in children with neurofibromatosis type 1 from two NF clinics.
- An Update of Childhood Genetic Disorders.
- Tetrasomy 15q25.2 → qter identified with SNP microarray in a patient with multiple anomalies including complex cardiovascular malformation.
- Genetic Causes of Macroglossia: Diagnostic Approach.
- Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency.
- Severe cervical scoliosis in the fetus.
- Pediatric Plexiform Neurofibromas: Impact on Morbidity and Mortality in Neurofibromatosis Type 1.
- Media Coverage of Direct-to-Consumer Genetic Testing.
- Lethal presentation of neurofibromatosis and Noonan syndrome.
- Ventricular noncompaction and absent thumbs in a newborn with tetrasomy 5q35.2-5q35.3: An association with Hunter-McAlpine syndrome?
- Deletion of 14-3-3{varepsilon} and CRK: a clinical syndrome with macrocephaly, developmental delay, and generalized epilepsy.
- Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: findings from the Fabry Registry.
- Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
- Acute progression of neuromuscular findings in infantile Pompe disease.
- Evaluation of growth in patients with isolated cleft lip and/or cleft palate.
- DiGeorge anomaly in the absence of chromosome 22q11.2 deletion.
- Concurrent course of transient neonatal diabetes with cholestasis and paucity of interlobular bile ducts: a case report.
- Experience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillance protocol.
- Twin-twin transfusion resulting in fetal cell contamination in Beckwith-Wiedemann syndrome.
- Characterization of congenital anomalies in individuals with choanal atresia.
- Phenotypic and microscopic description of a new case of Ermine phenotype.
- Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry.
- Fabry's disease.
- Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency.
- Enzyme reconstitution/replacement therapy for lysosomal storage diseases.
- Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition.
- Genetic service providers' practices and attitudes regarding adolescent genetic testing for carrier status.
- A new case of de novo 11q duplication in a patient with normal development and intelligence and review of the literature.
- Fabry disease: guidelines for the evaluation and management of multi-organ system involvement.
- Comparison of health-related quality of life between heterozygous women with Fabry disease, a healthy control population, and patients with other chronic disease.
- Non-lethal congenital hypotonia due to glycogen storage disease type IV.
- Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations.
- Use of the term "Antley-Bixler syndrome": minimizing confusion.
- Genetic analyses in two extended families with deletion 22q11 syndrome: importance of extracardiac manifestations.
- Blood expression profiles for tuberous sclerosis complex 2, neurofibromatosis type 1, and Down's syndrome.
- Development of a web-based genetics institute for a nursing audience.
- Genetic red flags: clues to thinking genetically in primary care practice.
- Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome.
- Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis.
- Association of anterior glottic webs with velocardiofacial syndrome (chromosome 22q11.2 deletion).
- GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region.
- Temporal bone abnormalities associated with hearing loss in Waardenburg syndrome.
- Upper airway malformation associated with partial trisomy 11q.
- Long-term survival in a patient with del(18)(q12.2q21.1).
- Comparative evaluation of alpha-galactosidase A infusions for treatment of Fabry disease.
- Unexpected survival in a case of prenatally diagnosed non-mosaic trisomy 22: Clinical report and review of the natural history.
- Enzyme therapy for lysosomal storage disease: principles, practice, and prospects.
- Combination of diaphragmatic eventration and microphthalmia/anophthalmia is probably nonrandom.
- Breast cancer genetics education for college women: an evaluation of approaches.
- Cognitive function in adults aging with fabry disease: a case-control feasibility study using telephone-based assessments.
- Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry.
Schools
University Of Nevada School Of Medicine
Phoenix Chldns HospMaricopa Med Center
Chldns Hospital Med Center
Doctors Specialties
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
Awards
- Teacher of the Year
- Outstanding Medical Research While in Pediatric Residency Training
Education
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Cincinnati Children's Hospital Medical Center -
University of Nevada School of Medicine
Hospital
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Cincinnati Children's Hospital Medical Center
Drug Facts
| NPI NUMBER | 1447281878 | |
| NPPES Provider LastName | HOPKIN | |
| NPPES Provider FirstName | ROBERT | |
| NPPES Provider ZIPCode | 452293039 | |
| NPPES Provider State | OH | |
| Specialty Description | Pediatric Medicine | |
| Total Claim Count | 150.0 | |
| Distinct Opioid Count | 0.0 | |
| Opioid Claim Count | 0.0 | |
| Percent Opioid Claims | 0.0 |
Helpful Reviews
Medicare Facts
| National Provider Identifier [NPI] | 1447281878 |
| Last Name Of The Provider | HOPKIN |
| First Name Of The Provider | ROBERT |
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