Publications
Integrative annotation of variants from 1092 humans: application to cancer genomics. Science. 2013 ;342(6154):1235587.
. Integrating the UMLS into VNS Retriever. Proc Annu Symp Comput Appl Med Care. 1992 ;:273-7.
. Integrating ethics and science in the International HapMap Project. Nat Rev Genet. 2004 ;5(6):467-75.
Integrating common and rare genetic variation in diverse human populations. Nature. 2010 ;467(7311):52-8.
. Integrated tumor and germline whole-exome sequencing identifies mutations in MAPK and PI3K pathway genes in an adolescent with rosette-forming glioneuronal tumor of the fourth ventricle. Cold Spring Harb Mol Case Stud. 2016 ;2(5):a001057.
. Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease. Neurol Genet. 2020 ;6(5):e498.
. Integrated multi-omics single cell atlas of the human retina. Res Sq. 2023 ;.
. Integrated Molecular Characterization of Testicular Germ Cell Tumors. Cell Rep. 2018 ;23(11):3392-3406.
. An Integrated Metabolic Atlas of Clear Cell Renal Cell Carcinoma. Cancer Cell. 2016 ;29(1):104-116.
. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012 ;491(7422):56-65.
. Integrated genomic characterization of endometrial carcinoma. Nature. 2013 ;497(7447):67-73.
. Integrated genomic analyses of ovarian carcinoma. Nature. 2011 ;474(7353):609-15.
Integrated and sequence-ordered BAC- and YAC-based physical maps for the rat genome. Genome Res. 2004 ;14(4):766-79.
. Integrated Analysis of TP53 Gene and Pathway Alterations in The Cancer Genome Atlas. Cell Rep. 2019 ;28(5):1370-1384.e5.
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Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med. 2019 ;21(4):798-812.
. Insights From a Large-Scale Whole-Genome Sequencing Study of Systolic Blood Pressure, Diastolic Blood Pressure, and Hypertension. Hypertension. 2022 ;79(8):1656-1667.
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Initiation of the Primate Genome Project. Zool Res. 2022 ;43(2):147-149.
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Initial sequencing and comparative analysis of the mouse genome. Nature. 2002 ;420(6915):520-62.
. Initial sequencing and analysis of the human genome. Nature. 2001 ;409(6822):860-921.
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Inherited causes of clonal haematopoiesis in 97,691 whole genomes. Nature. 2020 ;586(7831):763-768.
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