Author
Indiana University Indianapolis
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
Mutual co-authors in cluster
5 papers
Recent·Most cited
Khurram Liaqat, Gourav Saha, Shuai Guo…·Erin E. Conboy
The paper identifies a KCNA7 missense variant as a new disease gene for hypokalemic periodic paralysis through genetic, structural, and electrophysiological analyses in a multigenerational family.
Alexis Ferrasse, Rodrigo Mendez, John E. Gorzynski…·Carlos A. Pardo-Villamizar
This paper demonstrates that ensilication preserves DNA integrity at ambient temperature, enabling diagnostic-quality long-read sequencing without cold-chain infrastructure.
Sarah Silverstein, Andrew D. Nguyen, Rotem Orbach…·Christopher Grunseich
This study identifies deep intronic IGHMBP2 variants causing SMARD1 and CMT2S, showing they activate a shared cryptic splice donor, enabling correction with a single antisense oligonucleotide in patient-derived motor neurons.
Sara M. Fielder, Marisa W. Friederich, Daniella Helena Hock…·Stephen C. Pak
This study identifies de novo ATP5F1A variants causing neurological disorders through dominant negative mechanisms, expanding the known phenotypic and genotypic spectrum of complex V deficiency.
Kevin T. A. Booth, Sharayu V. Jangam, Martin Man Chun Chui…·Francesco Vetrini
The paper identifies de novo and inherited variants in DDX39B causing a syndrome with neurodevelopmental delay, short stature, and hypotonia, supported by molecular modeling and functional studies in Drosophila.