Publications
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 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: 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.
. A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. Am J Med Genet A. 2023 ;191(3):794-804.
. Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis. Am J Hum Genet. 2023 ;110(4):663-680.
. Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly. Am J Hum Genet. 2023 ;110(3):499-515.
. Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome. Genet Med. 2023 ;25(2):100323.
. Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage. Am J Hum Genet. 2023 ;110(4):681-690.
. Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals. Genet Med. 2023 ;25(1):90-102.
. . Clinical and functional heterogeneity associated with the disruption of Retinoic Acid Receptor beta. Genet Med. 2023 ;:100856.
. . Clonal haematopoiesis and risk of chronic liver disease. Nature. 2023 ;616(7958):747-754.
. Divergent BRAF Inhibitor Resistance Mechanisms Revealed through Epigenetic Mapping. J Invest Dermatol. 2023 ;143(5):842-853.e6.
. An efficient genotyper and star-allele caller for pharmacogenomics. Genome Res. 2023 ;33(1):61-70.
. The EN-TEx resource of multi-tissue personal epigenomes & variant-impact models. Cell. 2023 ;186(7):1493-1511.e40.
. Epigenetic and integrative cross-omics analyses of cerebral white matter hyperintensities on MRI. Brain. 2023 ;146(2):492-506.
. Excess folic acid intake increases DNA de novo point mutations. Cell Discov. 2023 ;9(1):22.
. Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants. Am J Med Genet A. 2023 ;.
. Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results. Circ Genom Precis Med. 2023 ;16(2):e003816.
. FixItFelix: improving genomic analysis by fixing reference errors. Genome Biol. 2023 ;24(1):31.
. FOXI3 pathogenic variants cause one form of craniofacial microsomia. Nat Commun. 2023 ;14(1):2026.
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