Publications
Germline genetic variants and pediatric rhabdomyosarcoma outcomes: a report from the Children's Oncology Group. J Natl Cancer Inst. 2023 ;115(6):733-741.
. A global catalog of whole-genome diversity from 233 primate species. Science. 2023 ;380(6648):906-913.
. Global impact of somatic structural variation on the cancer proteome. Nat Commun. 2023 ;14(1):5637.
. 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.
. 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.
. Identification of USP9X as a leukemia susceptibility gene. Blood Adv. 2023 ;7(16):4563-4575.
. Intratumoral Heterogeneity and Clonal Evolution Induced by HPV Integration. Cancer Discov. 2023 ;13(4):910-927.
. Investigating Gene-Diet Interactions Impacting the Association Between Macronutrient Intake and Glycemic Traits. Diabetes. 2023 ;72(5):653-665.
. The landscape of tolerated genetic variation in humans and primates. Science. 2023 ;380(6648):eabn8153.
. Loci on chromosome 12q13.2 encompassing ERBB3, PA2G4 and RAB5B are associated with polycystic ovary syndrome. Gene. 2023 ;852:147062.
. Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. Am J Hum Genet. 2023 ;110(8):1394-1413.
. Multiscale analysis of pangenomes enables improved representation of genomic diversity for repetitive and clinically relevant genes. Nat Methods. 2023 ;20(8):1213-1221.
. Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits. Clin Genet. 2023 ;104(3):344-349.
. Novel Pathogenic Mutations Identified from Whole-Genome Sequencing in Unsolved Cases of Patients Affected with Inherited Retinal Diseases. Genes (Basel). 2023 ;14(2).
. Pan-cancer molecular subtypes of metastasis reveal distinct and evolving transcriptional programs. Cell Rep Med. 2023 ;4(2):100932.
. Phenotypic Variability of SOCS1 Haploinsufficiency. J Clin Immunol. 2023 ;43(5):902-906.
. 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.
. Prevalence of Rhabdomyosarcoma in the U.S. from 2017-2018: A SEER study. J Natl Med Assoc. 2023 ;115(4):403-404.
. Proteomics analysis of plasma from middle-aged adults identifies protein markers of dementia risk in later life. Sci Transl Med. 2023 ;15(705):eadf5681.
. Rare Genetic Variants Associated With Sudden Cardiac Arrest in the Young: A Prospective, Population-Based Study. Circ Genom Precis Med. 2023 ;16(4):404-405.
. Rare penetrant mutations confer severe risk of common diseases. Science. 2023 ;380(6648):eabo1131.
. Rare variant enrichment analysis supports as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome. HGG Adv. 2023 ;4(3):100188.
. Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed whole-genome sequencing study. Am J Hum Genet. 2023 ;110(10):1704-1717.
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