Publications
.
Analysis and benchmarking of small and large genomic variants across tandem repeats. Nat Biotechnol. 2024 ;.
. . Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis. Nature. 2023 ;616(7958):755-763.
. Association Between Whole Blood-Derived Mitochondrial DNA Copy Number, Low-Density Lipoprotein Cholesterol, and Cardiovascular Disease Risk. J Am Heart Assoc. 2023 ;12(20):e029090.
. . Association of Mitochondrial DNA Copy Number With Brain MRI Markers and Cognitive Function: A Meta-analysis of Community-Based Cohorts. Neurology. 2023 ;100(18):e1930-e1943.
. Association of Rare Protein-Truncating DNA Variants in APOB or PCSK9 With Low-density Lipoprotein Cholesterol Level and Risk of Coronary Heart Disease. JAMA Cardiol. 2023 ;8(3):258-267.
. Author Correction: Analyses of non-coding somatic drivers in 2,658 cancer whole genomes. Nature. 2023 ;614(7948):E40.
. Author Correction: Clonal haematopoiesis and risk of chronic liver disease. Nature. 2023 ;619(7970):E47.
. Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores. Nat Commun. 2023 ;14(1):716.
. Author Correction: The repertoire of mutational signatures in human cancer. Nature. 2023 ;614(7948):E41.
. AAV8-Mediated Gene Therapy Rescues Retinal Degeneration Phenotype in a Tlcd3b Knockout Mouse Model. Invest Ophthalmol Vis Sci. 2022 ;63(3):11.
. Accounting for population structure in genetic studies of cystic fibrosis. HGG Adv. 2022 ;3(3):100117.
. Accuracy and applications of sequencing and genotyping approaches for CYP2A6 and homologous genes. Pharmacogenet Genomics. 2022 ;32(4):159-172.
. Accurate profiling of forensic autosomal STRs using the Oxford Nanopore Technologies MinION device. Forensic Sci Int Genet. 2022 ;56:102629.
. American Heart Association's Life's Simple 7: Lifestyle Recommendations, Polygenic Risk, and Lifetime Risk of Coronary Heart Disease. Circulation. 2022 ;145(11):808-818.
. Apolipoprotein E Polymorphism, Cardiac Remodeling, and Heart Failure in the ARIC Study. J Card Fail. 2022 ;28(7):1128-1136.
. Artificial Intelligence and Cardiovascular Genetics. Life (Basel). 2022 ;12(2).
. Assessing reproducibility of inherited variants detected with short-read whole genome sequencing. Genome Biol. 2022 ;23(1):2.
. Assessing the contribution of rare genetic variants to phenotypes of chronic obstructive pulmonary disease using whole-genome sequence data. Hum Mol Genet. 2022 ;31(22):3873-3885.
. Assessing Variant Causality and Severity Using Retinal Pigment Epithelial Cells Derived from Stargardt Disease Patients. Transl Vis Sci Technol. 2022 ;11(3):33.
. Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases. JAMA Oncol. 2022 ;8(6):835-844.
. Author Correction: Comparative and demographic analysis of orang-utan genomes. Nature. 2022 ;608(7924):E36.
. .