Matthew Pastore
Biochemistry, Genetics and Molecular Biology · The Ohio State University
Publications
47
Citations
1,837
Est. group size
—
Recurring co-author estimate
Active years
26
Publishing since 2001
Matthew Pastore's work focuses on genetic and metabolic disorders, particularly rare neurodevelopmental and mitochondrial conditions, as well as clinical genetic testing practices such as newborn screening for cystic fibrosis. His research combines clinical case studies, gene-variant discovery, and diagnostic process improvement to better identify and understand inherited diseases affecting the brain, muscles, and metabolism.
Publication output has been variable over the past decade, with peaks in 2017 and 2019, a lull around 2020-2022, and a modest, steady output of a few papers per year since 2023.
Generated by claude-sonnet-5 from public bibliographic data · Jul 20, 2026
- Lipid transport is necessary for neocortical lamination
Genes & Diseases · 2026
- Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder
Genetics in Medicine Open · 2025
- 754 A delicate balance: interventions to improve timeliness of sweat chloride testing while reducing risk of quantity-not-sufficient rates for infants with abnormal newborn screening for CF
Journal of Cystic Fibrosis · 2024
- The culture of education regimes: Efficiency, equality and governance in education and social policy
Social Policy and Administration · 2023
- 683 Creation of an abnormal newborn screen response team improves timeliness of sweat chloride testing
Journal of Cystic Fibrosis · 2023
- Lessons learned from 40 novel <i>PIGA</i> patients and a review of the literature
Epilepsia · 2020
- Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect
Genetics in Medicine · 2019
- Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic
Neuropediatrics · 2019
- Characterization of the renal phenotype in <i>RMND1</i>‐related mitochondrial disease
Molecular Genetics & Genomic Medicine · 2019
- Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect
Genetics in Medicine · 2019
- Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially
PLoS Genetics · 2017
- Diagnosis and Treatment of Cystic Fibrosis: A (Not-so) Simple Recessive Condition
Current Genetic Medicine Reports · 2017
- The story of Supreme Court politicization: The mass public v elite divide
OpenBU/Boston University Institutional Repository (Boston University) · 2017
- Sharing exome sequencing data between Clinical Sequencing Labs and Healthcare Providers.
AMIA · 2017
- SRD5A3‐CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features
American Journal of Medical Genetics Part A · 2016
- Genetics in Medicine×3
- Genome Medicine×2
- Journal of Cystic Fibrosis×2
- PLoS Genetics×1
- Epilepsia×1
- Scott E. Hickey
Biochemistry, Genetics and Molecular Biology · The Ohio State University
- Amy Siemon
Biochemistry, Genetics and Molecular Biology · The Ohio State University
- Mariam Mathew
Biochemistry, Genetics and Molecular Biology · The Ohio State University
- Kayla Treat
Biochemistry, Genetics and Molecular Biology · Indiana University
- Francesco Vetrini
Biochemistry, Genetics and Molecular Biology · Indiana University
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 19, 2026.
Claim or correct this profile