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American Journal of Human Genetics|July 28, 2023
High-throughput functional dissection of noncoding SNPs with biased allelic enhancer activity for insulin resistance-relevant phenotypesYuan-Yuan Duan, Xiao-Feng Chen, Ren-Jie Zhu, et al.
BMC Medicine|December 17, 2014
Altered thyroid hormone profile in offspring after exposure to high estradiol environment during the first trimester of pregnancy: a cross-sectional studyPing-Ping Lv, Ye Meng, Min Lv, et al.
Genome Medicine|April 14, 2025
Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare diseaseAlexandra C Martin-Geary, Alexander J M Blakes, Ruebena Dawes, et al.
American Journal of Human Genetics|November 11, 2008
Genome-wide copy-number-variation study identified a susceptibility gene, UGT2B17, for osteoporosisTie-Lin Yang, Xiang-Ding Chen, Yan Guo, et al.
Nature Neuroscience|March 18, 2018
Publisher Correction: Whole genome sequencing in psychiatric disorders: the WGSPD consortiumStephan J Sanders, Benjamin M Neale, Hailiang Huang, et al.
Cell Reports|September 27, 2018
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in PathogenesisSheng Wang, Jeffrey D Mandell, Yogesh Kumar, et al.
Science (New York, N.Y.)|May 29, 2025
Predicting expression-altering promoter mutations with deep learningKishore Jaganathan, Nicole Ersaro, Gherman Novakovsky, et al.
Plos Genetics|January 15, 2010
Genome-wide association study identifies ALDH7A1 as a novel susceptibility gene for osteoporosisYan Guo, Li-Jun Tan, Shu-Feng Lei, et al.
Cell Reports|October 7, 2014
De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorderShan Dong, Michael F Walker, Nicholas J Carriero, et al.
Cell Reports|April 9, 2020
Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal CortexDonna M Werling, Sirisha Pochareddy, Jinmyung Choi, et al.
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