Publications
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Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome. Hum Mutat 42, 577-591 (2021).
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome. Hum Mutat 42, 577-591 (2021).
Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases. Hum Mutat 41, 2094-2104 (2020).
Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases. Hum Mutat 41, 2094-2104 (2020).
Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases. Hum Mutat 41, 2094-2104 (2020).
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions. Nat Commun 11, 3635 (2020).
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions. Nat Commun 11, 3635 (2020).
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions. Nat Commun 11, 3635 (2020).
Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related Traits. Am J Hum Genet 100, 205-215 (2017).
Quantifying the regulatory effect size of -acting genetic variation using allelic fold change. Genome Res 27, 1872-1884 (2017).
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med 376, 21-31 (2017).
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med 376, 21-31 (2017).
SVEP1 is a human coronary artery disease locus that promotes atherosclerosis. Sci Transl Med 13, (2021).
Titin Truncating Variants in Adults Without Known Congestive Heart Failure. J Am Coll Cardiol 75, 1239-1241 (2020).
Transcriptomic signatures across human tissues identify functional rare genetic variation. Science 369, (2020).
Transcriptomic signatures across human tissues identify functional rare genetic variation. Science 369, (2020).
Type 2 and interferon inflammation regulate SARS-CoV-2 entry factor expression in the airway epithelium. Nat Commun 11, 5139 (2020).
Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms. Cell 170, 199-212.e20 (2017).
Validation of a Genome-Wide Polygenic Score for Coronary Artery Disease in South Asians. J Am Coll Cardiol 76, 703-714 (2020).
Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late. Clin Genet 98, 477-485 (2020).
Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease. Am J Hum Genet 108, 431-445 (2021).
Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease. Am J Hum Genet 108, 431-445 (2021).
Whole-Genome Sequencing of Pharmacogenetic Drug Response in Racially Diverse Children with Asthma. Am J Respir Crit Care Med 197, 1552-1564 (2018).
Whole-Genome Sequencing of Pharmacogenetic Drug Response in Racially Diverse Children with Asthma. Am J Respir Crit Care Med 197, 1552-1564 (2018).
Whole-Genome Sequencing of Pharmacogenetic Drug Response in Racially Diverse Children with Asthma. Am J Respir Crit Care Med 197, 1552-1564 (2018).
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