Publications
Characterization and visualization of tandem repeats at genome scale. Nat Biotechnol. 2024 ;.
. Genetic Variation Between Small Bowel and Colon-Predominant Crohn Disease. Cell Mol Gastroenterol Hepatol. 2024 ;.
. Inter and intra-host diversity of RSV in hematopoietic stem cell transplant adults with normal and delayed viral clearance. Virus Evol. 2024 ;10(1):vead086.
. Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration. Genet Med. 2024 ;:101106.
. 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.
. Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores. Nat Commun. 2023 ;14(1):716.
. Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores. Nat Commun. 2023 ;14(1):716.
. 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.
. Ceramide compensation by ceramide synthases preserves retinal function and structure in a retinal dystrophy mouse model. Dis Model Mech. 2023 ;16(7).
. 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.
. Exome Sequencing Implicates DGKZ , ESRRA , and GXYLT1 for Modulating Granuloma Formation in Crohn Disease. J Pediatr Gastroenterol Nutr. 2023 ;77(3):354-357.
. Gene augmentation therapy to rescue degenerative photoreceptors in a Cwc27 mutant mouse model. Exp Eye Res. 2023 ;234:109596.
. The genetic determinants of recurrent somatic mutations in 43,693 blood genomes. Sci Adv. 2023 ;9(17):eabm4945.
. Genome-Wide Analysis of Structural Variants in Parkinson Disease. Ann Neurol. 2023 ;93(5):1012-1022.
. Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk. bioRxiv. 2023 ;.
. Identification of Dietary Supplements Associated with Blood Metabolites in the Hispanic Community Health Study/Study of Latinos Cohort Study. J Nutr. 2023 ;153(5):1483-1492.
. Novel Pathogenic Mutations Identified from Whole-Genome Sequencing in Unsolved Cases of Patients Affected with Inherited Retinal Diseases. Genes (Basel). 2023 ;14(2).
. Phylogenomic analyses provide insights into primate evolution. Science. 2023 ;380(6648):913-924.
. PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects. Am J Hum Genet. 2023 ;110(10):1787-1803.
. Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies. Nat Genet. 2023 ;55(1):154-164.
. Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences. J Med Genet. 2023 ;60(6):547-556.
. Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences. J Med Genet. 2023 ;60(6):547-556.
. The Role of Ceramide in Inherited Retinal Disease Pathology. Adv Exp Med Biol. 2023 ;1415:303-307.
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