Brett H. Graham
Biochemistry, Genetics and Molecular Biology · Indiana University
Publications
181
Citations
11,443
Est. group size
~5
Recurring co-author estimate
Active years
37
Publishing since 1989
- P626: Enhancing ultra-rare disease diagnoses through multi-omics integration and multi-site collaboration in the Indiana University Undiagnosed Rare Disease Clinic (URDC) cohort
Genetics in Medicine Open · 2025
- An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser
Genome Medicine · 2025
- Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders Emphasizes the Need for Multitier Testing and Collaborative Approaches to Management
JIMD Reports · 2025
- <i>Sucla2</i> Knock‐Out in Skeletal Muscle Yields Mouse Model of Mitochondrial Myopathy With Muscle Type–Specific Phenotypes
Journal of Cachexia Sarcopenia and Muscle · 2024
- Central nervous system infection due to Histoplasma capsulatum
Elsevier eBooks · 2024
- P687: Variant classification discrepancies in the ACADVL gene
Genetics in Medicine Open · 2024
- P423: Recurrent pulmonary hemorrhages as a presenting symptom of congenital dysfibrinogenemia in a hospital patient identified from rapid whole genome sequencing
Genetics in Medicine Open · 2024
- Contributors
Elsevier eBooks · 2024
- Performance of Dysmorphology‐Based Screening for Genetic Disorders in Pediatric Congenital Heart Disease Supports Wider Genetic Testing
Molecular Genetics & Genomic Medicine · 2024
- Successful Sequential Liver and Isolated Intestine Transplantation for Mitochondrial Neurogastrointestinal Encephalopathy Syndrome: A Case Report
Annals of Transplantation · 2024
- Time-to-Diagnosis of Severe Combined Immunodeficiency with the Help of Newborn Screen in Indiana
Journal of Allergy and Clinical Immunology · 2024
- P433: A novel deep intronic variant in DYNC2H1 characterized through exome reanalysis in a neonate with short-rib thoracic dysplasia type III
Genetics in Medicine Open · 2023
- Succinyl-CoA Synthetase Dysfunction as a Mechanism of Mitochondrial Encephalomyopathy: More than Just an Oxidative Energy Deficit
International Journal of Molecular Sciences · 2023
- Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation
Molecular Genetics and Metabolism · 2023
- Omaveloxolone approved for patients aged 16 years and older with Friedreich ataxia (FRDA): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)
Genetics in Medicine Open · 2023
- The American Journal of Human Genetics×11
- Genetics in Medicine Open×9
- Molecular Genetics and Metabolism×8
- Figshare×8
- Genetics in Medicine×6
This profile was generated automatically from public scholarly data (OpenAlex). Group size and activity levels are estimates derived from co-authorship patterns.
Last updated Jul 9, 2026.
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