Publications
An integrated map of genetic variation from 1,092 human genomes. Nature. 2012 ;491(7422):56-65.
. Intratumoral Heterogeneity and Clonal Evolution Induced by HPV Integration. Cancer Discov. 2023 ;13(4):910-927.
. Identification of prognosis markers in pediatric high-risk acute lymphoblastic leukemia. Pediatr Hematol Oncol. 2005 ;22(7):629-43.
. Improved ligation-anchored PCR strategy for identification of 5' ends of transcripts. Biotechniques. 1996 ;21(1):34-6, 38.
. 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.
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Integrating the UMLS into VNS Retriever. Proc Annu Symp Comput Appl Med Care. 1992 ;:273-7.
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Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome. Hepatology. 2019 ;70(3):899-910.
. Inherited causes of clonal haematopoiesis in 97,691 whole genomes. Nature. 2020 ;586(7831):763-768.
. Investigation of the conformation of lactate dehydrogenase and of its catalytic activity. Biochim Biophys Acta. 1967 ;132(2):271-81.
. Incidental copy-number variants identified by routine genome testing in a clinical population. Genet Med. 2013 ;15(1):45-54.
. Identification of a QTL for adipocyte volume and of shared genetic effects with aspartate aminotransferase. Biochem Genet. 2010 ;48(5-6):538-47.
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Incident Heart Failure and Cognitive Decline: The Atherosclerosis Risk in Communities Study. J Card Fail. 2017 ;23(1):47-55.
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IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease. Hum Genet. 2021 ;140(9):1299-1312.
. Integrated genomic characterization of endometrial carcinoma. Nature. 2013 ;497(7447):67-73.
. Integrated genomic analyses of ovarian carcinoma. Nature. 2011 ;474(7353):609-15.
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An integrative variant analysis suite for whole exome next-generation sequencing data. BMC Bioinformatics. 2012 ;13:8.
. Isolation and Barcoding of Trace Pollen-free DNA for Authentication of Honey. J Agric Food Chem. 2022 ;70(43):14084-14095.
. Improved sequence mapping using a complete reference genome and lift-over. Nat Methods. 2024 ;21(1):41-49.
. Identification of genes subject to positive selection in uropathogenic strains of Escherichia coli: a comparative genomics approach. Proc Natl Acad Sci U S A. 2006 ;103(15):5977-82.
. Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles. Am J Hum Genet. 2018 ;103(2):171-187.
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