Publications
48
Citations
3,210
Est. group size
—
Recurring co-author estimate
Active years
25
Publishing since 2002
This researcher studies spinal muscular atrophy (SMA), a genetic disease affecting motor neurons and muscle function, focusing on the genetics of the SMN1 and SMN2 genes, diagnostic testing methods (including digital PCR and genome sequencing approaches), and potential drug treatments such as histone deacetylase inhibitors and butyrate-based compounds. Work spans basic genetics, mouse model studies, and translational efforts to develop and test therapeutic compounds for SMA.
Publication output has been steady but modest over the last decade, averaging under 2 papers per year, with a small peak of 4 publications in 2022.
Generated by claude-sonnet-5 from public bibliographic data · Jul 20, 2026
- Spinal muscular atrophy among US Hutterites: Phenotype variability in the setting of conserved ancestral haplotype and 4 SMN2 copies
Genetics in Medicine · 2026
- The effect of coadministration of D156844 and AR42 (REC-2282) on the survival and motor phenotype of mice with spinal muscular atrophy
Scientific Reports · 2025
- Abstract PO1-05-08: Enhanced ER+ tumor growth inhibition of fulvestrant from effective oral delivery yielding elevated plasma concentrations
Cancer Research · 2024
- Evaluation of the orally bioavailable 4-phenylbutyrate-tethered trichostatin A analogue AR42 in models of spinal muscular atrophy
Scientific Reports · 2023
- Biological networks and complexity in early-onset motor neuron diseases
Frontiers in Neurology · 2022
- Comprehensive In Silico Analysis of Retrotransposon Insertions within the Survival Motor Neuron Genes Involved in Spinal Muscular Atrophy
Biology · 2022
- Comprehensive Analysis of Retrotransposon Insertions within the Survival Motor Neuron Genes Involved in Spinal Muscular Atrophy
Research Square · 2022
- Effects of Inhibitors of SLC9A-Type Sodium-Proton Exchangers on Survival Motor Neuron 2 (SMN2) mRNA Splicing and Expression
Molecular Pharmacology · 2022
- Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development
International Journal of Molecular Sciences · 2021
- Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR
Neurogenetics · 2021
- Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data
Genetics in Medicine · 2020
- Development and validation of a 4-color multiplexing spinal muscular atrophy (SMA) genotyping assay on a novel integrated digital PCR instrument
Scientific Reports · 2020
- Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data
medRxiv · 2019
- Using Systems Biology and Mathematical Modeling Approaches in the Discovery of Therapeutic Targets for Spinal Muscular Atrophy
Advances in neurobiology · 2018
- Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR
Neuromuscular Disorders · 2017
- Scientific Reports×3
- Genetics in Medicine×2
- Frontiers in Molecular Biosciences×1
- International Journal of Molecular Sciences×1
- Neurogenetics×1
- Arthur H.M. Burghes
Medicine · The Ohio State University
- Anton J. Blatnik
Medicine · The Ohio State University
- Sara K. Custer
Medicine · Indiana University
- Richard Shell
Medicine · The Ohio State University
- Megan A. Waldrop
Medicine · The Ohio State 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.
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