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HGG Advances|August 31, 2025
Whole genome sequence-based association analysis of African American individuals with bipolar disorder and schizophreniaRunjia Li, Sarah A Gagliano Taliun, Kevin Liao, et al.
HGG Advances|January 20, 2022
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variabilityChaofan Zhang, Angad Jolly, Brian J Shayota, et al.
Medrxiv : the Preprint Server for Health Sciences|January 7, 2025
Whole genome sequence-based association analysis of African American individuals with bipolar disorder and schizophreniaRunjia Li, Sarah A Gagliano Taliun, Kevin Liao, et al.
Circulation. Genomic and Precision Medicine|May 13, 2018
Common Coding Variants in <i>SCN10A</i> Are Associated With the Nav1.8 Late Current and Cardiac ConductionVincenzo Macri, Jennifer A Brody, Dan E Arking, et al.
Human Mutation|March 28, 2022
Phenotypic and mutational spectrum of ROR2-related Robinow syndromeAriadne R Lima, Barbara M Ferreira, Chaofan Zhang, et al.
Nature|April 13, 2012
Patterns and rates of exonic de novo mutations in autism spectrum disordersBenjamin M Neale, Yan Kou, Li Liu, et al.
Genome Medicine|March 27, 2019
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndromeFrancesco Vetrini, Shane McKee, Jill A Rosenfeld, et al.
American Journal of Human Genetics|April 23, 2025
Bi-allelic UGGT1 variants cause a congenital disorder of glycosylationZain Dardas, Laura Harrold, Daniel G Calame, et al.
Genome Medicine|March 2, 2019
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndromeFrancesco Vetrini, Shane McKee, Jill A Rosenfeld, et al.
Environmental Science & Technology|April 11, 2018
The Toxicogenome of Hyalella azteca: A Model for Sediment Ecotoxicology and Evolutionary ToxicologyHelen C Poynton, Simone Hasenbein, Joshua B Benoit, et al.
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