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American Journal of Medical Genetics. Part A|July 23, 2013
Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: further confirmation of pathogenicity and haplotype analysis in Asian populationsEmily Gallant, Lauren Francey, Ellen A Tsai, et al.
Biorxiv : the Preprint Server for Biology|December 15, 2025
High cell-type specificity of eQTLs revealed by single-nucleus analyses of brain and bloodMartijn Vochteloo, Anoek Kooijmans, Joost Bakker, et al.
Nature Communications|November 6, 2021
Pairwise effects between lipid GWAS genes modulate lipid plasma levels and cellular uptakeMagdalena Zimoń, Yunfeng Huang, Anthi Trasta, et al.
Cellular and Molecular Gastroenterology and Hepatology|January 17, 2017
<i>THBS2</i> Is a Candidate Modifier of Liver Disease Severity in Alagille SyndromeEllen A Tsai, Melissa A Gilbert, Christopher M Grochowski, et al.
Nature Communications|February 26, 2024
Whole-exome sequencing in UK Biobank reveals rare genetic architecture for depressionRuoyu Tian, Tian Ge, Hyeokmoon Kweon, et al.
Nature Genetics|May 25, 2023
The impact of rare protein coding genetic variation on adult cognitive functionChia-Yen Chen, Ruoyu Tian, Tian Ge, et al.
American Journal of Medical Genetics. Part A|July 31, 2013
PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disordersEllen A Tsai, Micah A Berman, Laura K Conlin, et al.
Nature Genetics|February 24, 2023
Brain expression quantitative trait locus and network analyses reveal downstream effects and putative drivers for brain-related diseasesNiek de Klein, Ellen A Tsai, Martijn Vochteloo, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 14, 2021
The Parkinson's disease-associated gene ITPKB protects against α-synuclein aggregation by regulating ER-to-mitochondria calcium releaseDaniel J Apicco, Evgeny Shlevkov, Catherine L Nezich, et al.
American Journal of Medical Genetics. Part A|June 24, 2020
Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencingJohanna L Schmidt, Amy Pizzino, Jessica Nicholl, et al.
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