Publications
A comparative study of structural variant calling in WGS from Alzheimer's disease families. Life Sci Alliance. 2024 ;7(5).
. Multi-omics and pathway analyses of genome-wide associations implicate regulation and immunity in verbal declarative memory performance. Alzheimers Res Ther. 2024 ;16(1):14.
. Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis. Nature. 2023 ;616(7958):755-763.
. Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking. J Inherit Metab Dis. 2023 ;46(6):1195-1205.
. Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality. Nat Commun. 2023 ;14(1):6113.
. The EN-TEx resource of multi-tissue personal epigenomes & variant-impact models. Cell. 2023 ;186(7):1493-1511.e40.
. The EN-TEx resource of multi-tissue personal epigenomes & variant-impact models. Cell. 2023 ;186(7):1493-1511.e40.
. The EN-TEx resource of multi-tissue personal epigenomes & variant-impact models. Cell. 2023 ;186(7):1493-1511.e40.
. Excess folic acid intake increases DNA de novo point mutations. Cell Discov. 2023 ;9(1):22.
. FOXI3 pathogenic variants cause one form of craniofacial microsomia. Nat Commun. 2023 ;14(1):2026.
. Gene-educational attainment interactions in a multi-population genome-wide meta-analysis identify novel lipid loci. Front Genet. 2023 ;14:1235337.
. The genetic determinants of recurrent somatic mutations in 43,693 blood genomes. Sci Adv. 2023 ;9(17):eabm4945.
. Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features. Hum Mol Genet. 2023 ;32(20):2981-2995.
. Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features. Hum Mol Genet. 2023 ;32(20):2981-2995.
. Intratumoral Heterogeneity and Clonal Evolution Induced by HPV Integration. Cancer Discov. 2023 ;13(4):910-927.
. The landscape of tolerated genetic variation in humans and primates. bioRxiv. 2023 ;.
. The landscape of tolerated genetic variation in humans and primates. Science. 2023 ;380(6648):eabn8153.
. . Assessing reproducibility of inherited variants detected with short-read whole genome sequencing. Genome Biol. 2022 ;23(1):2.
. Assessing reproducibility of inherited variants detected with short-read whole genome sequencing. Genome Biol. 2022 ;23(1):2.
. Assessing reproducibility of inherited variants detected with short-read whole genome sequencing. Genome Biol. 2022 ;23(1):2.
. Author Correction: Towards accurate and reliable resolution of structural variants for clinical diagnosis. Genome Biol. 2022 ;23(1):198.
. Benchmarking challenging small variants with linked and long reads. Cell Genom. 2022 ;2(5).
. A complete reference genome improves analysis of human genetic variation. Science. 2022 ;376(6588):eabl3533.
. The complete sequence of a human genome. Science. 2022 ;376(6588):44-53.
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