Publications
Genetic diversity in India and the inference of Eurasian population expansion. Genome Biol. 2010 ;11(11):R113.
. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature. 2005 ;434(7034):724-31.
. Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model. Nat Med. 2012 ;18(9):1423-8.
. A framework for the interpretation of de novo mutation in human disease. Nat Genet. 2014 ;46(9):944-50.
. Fine mapping the region reveals a common intronic insertion associated to HDL-C. NPJ Aging Mech Dis. 2015 ;1:15011.
. Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants. Am J Med Genet A. 2023 ;191(6):1546-1556.
. Exome variant discrepancies due to reference-genome differences. Am J Hum Genet. 2021 ;108(7):1239-1250.
. Exome sequencing reveals novel genetic loci influencing obesity-related traits in Hispanic children. Obesity (Silver Spring). 2017 ;25(7):1270-1276.
. Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes. NPJ Genom Med. 2019 ;4:19.
. Exome sequencing in children with clinically suspected maturity-onset diabetes of the young. Pediatr Diabetes. 2021 ;22(7):960-968.
. Evolutionary and biomedical insights from the rhesus macaque genome. Science. 2007 ;316(5822):222-34.
. EAnnot: a genome annotation tool using experimental evidence. Genome Res. 2004 ;14(12):2503-9.
. Deep resequencing reveals excess rare recent variants consistent with explosive population growth. Nat Commun. 2010 ;1:131.
. Deep resequencing and association analysis of schizophrenia candidate genes. Mol Psychiatry. 2013 ;18(2):138-40.
. Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. Am J Hum Genet. 2016 ;99(2):318-36.
. Comparison of genome degradation in Paratyphi A and Typhi, human-restricted serovars of Salmonella enterica that cause typhoid. Nat Genet. 2004 ;36(12):1268-74.
. Community-based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability. Mol Genet Genomic Med. 2020 ;8(10):e1439.
. Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder. Hum Mol Genet. 2020 ;29(3):459-470.
. Assessing structural variation in a personal genome-towards a human reference diploid genome. BMC Genomics. 2015 ;16(1):286.
. Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls. PLoS Genet. 2013 ;9(4):e1003443.
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