Publications
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Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies. NPJ Genom Med. 2024 ;9(1):18.
. . . . Characterization and visualization of tandem repeats at genome scale. Nat Biotechnol. 2024 ;.
. Expanding the phenotype of PPP1R21-related neurodevelopmental disorder. Clin Genet. 2024 ;.
. Identification of constrained sequence elements across 239 primate genomes. Nature. 2024 ;625(7996):735-742.
. Identification of constrained sequence elements across 239 primate genomes. Nature. 2024 ;625(7996):735-742.
. Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration. Genet Med. 2024 ;:101106.
. A polygenic risk score of atrial fibrillation improves prediction of lifetime risk for heart failure. ESC Heart Fail. 2024 ;.
. Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt. Am J Hum Genet. 2024 ;111(3):487-508.
. Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt. Am J Hum Genet. 2024 ;111(3):487-508.
. . Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis. Nature. 2023 ;616(7958):755-763.
. Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis. Nature. 2023 ;616(7958):755-763.
. Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis. Nature. 2023 ;616(7958):755-763.
. . . 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 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 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: Analyses of non-coding somatic drivers in 2,658 cancer whole genomes. Nature. 2023 ;614(7948):E40.
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