Publications
Fxr1 knockout mice show a striated muscle phenotype: implications for Fxr1p function in vivo. Hum Mol Genet. 2004 ;13(13):1291-302.
. Further evidence for phenotypic signatures of hybridization in descendant baboon populations. J Hum Evol. 2014 ;76:54-62.
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Functionally oriented analysis of cardiometabolic traits in a trans-ethnic sample. Hum Mol Genet. 2019 ;28(7):1212-1224.
. A functional variomics tool for discovering drug-resistance genes and drug targets. Cell Rep. 2013 ;3(2):577-85.
. Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes. Genome Med. 2021 ;13(1):55.
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Functional characterization of age-dependent p16 epimutation reveals biological drivers and therapeutic targets for colorectal cancer. J Exp Clin Cancer Res. 2023 ;42(1):113.
. Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome. Genet Med. 2022 ;24(11):2262-2273.
. Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. Eur J Hum Genet. 2020 ;28(9):1243-1264.
. Functional annotation of rare gene aberration drivers of pancreatic cancer. Nat Commun. 2016 ;7:10500.
. Functional Annotation of ESR1 Gene Fusions in Estrogen Receptor-Positive Breast Cancer. Cell Rep. 2018 ;24(6):1434-1444.e7.
. Functional and evolutionary insights from the genomes of three parasitoid Nasonia species. Science. 2010 ;327(5963):343-8.
. Functional analysis of miR-34c as a putative tumor suppressor in high-grade serous ovarian cancer. Biol Reprod. 2014 ;91(5):113.
. Fully resolved assembly of Cryptosporidium parvum. Gigascience. 2022 ;11.
. A full-length cDNA resource for the pea aphid, Acyrthosiphon pisum. Insect Mol Biol. 2010 ;19 Suppl 2(0 2):23-31.
. Full disclosure: Genome assembly is still hard. PLoS Biol. 2018 ;16(4):e2005894.
. From vulnerable plaque to vulnerable patient: a call for new definitions and risk assessment strategies: Part II. Circulation. 2003 ;108(15):1772-8.
. From vulnerable plaque to vulnerable patient: a call for new definitions and risk assessment strategies: Part I. Circulation. 2003 ;108(14):1664-72.
. From human genome to cancer genome: the first decade. Genome Res. 2013 ;23(7):1054-62.
. From genomic medicine to precision medicine: highlights of 2015. Genome Med. 2016 ;8(1):12.
. From genes to genomes in the clinic. Genome Med. 2015 ;7(1):78.
. Frequent spontaneous structural rearrangements promote rapid genome diversification in a F1 generation. Front Plant Sci. 2022 ;13:1057953.
. The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities. Commun Biol. 2024 ;7(1):174.
. A framework for the interpretation of de novo mutation in human disease. Nat Genet. 2014 ;46(9):944-50.
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