Publications
Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair. Nat Genet. 2015 ;47(11):1294-1303.
. Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility. Nat Commun. 2015 ;6:5897.
. Non-coding genetic variants in human disease. Hum Mol Genet. 2015 ;24(R1):R102-10.
. PLD3 variants in population studies. Nature. 2015 ;520(7545):E2-3.
. Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF. Blood. 2015 ;126(11):e19-29.
. Rare variants analysis using penalization methods for whole genome sequence data. BMC Bioinformatics. 2015 ;16:405.
. . Clinical genomics: from a truly personal genome viewpoint. Hum Genet. 2016 ;135(6):591-601.
. Discovery of Genetic Variation on Chromosome 5q22 Associated with Mortality in Heart Failure. PLoS Genet. 2016 ;12(5):e1006034.
. DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. Am J Hum Genet. 2016 ;98(3):553-561.
. Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits. Am J Hum Genet. 2016 ;99(1):8-21.
. Genetic Variants in LRP1 and ULK4 Are Associated with Acute Aortic Dissections. Am J Hum Genet. 2016 ;99(3):762-769.
. Genome-culture coevolution promotes rapid divergence of killer whale ecotypes. Nat Commun. 2016 ;7:11693.
. The genomic basis of circadian and circalunar timing adaptations in a midge. Nature. 2016 ;540(7631):69-73.
. Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern. Hum Mutat. 2016 ;37(8):804-11.
. Identification of Rare Variants in Metabolites of the Carnitine Pathway by Whole Genome Sequencing Analysis. Genet Epidemiol. 2016 ;40(6):486-91.
. Loss-of-function variants influence the human serum metabolome. Sci Adv. 2016 ;2(8):e1600800.
. Mechanisms underlying structural variant formation in genomic disorders. Nat Rev Genet. 2016 ;17(4):224-38.
. Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. Am J Hum Genet. 2016 ;98(3):562-570.
. Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals. Am J Hum Genet. 2016 ;99(1):40-55.
. Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young. Genome Res. 2016 ;26(9):1170-7.
. On Robust Association Testing for Quantitative Traits and Rare Variants. G3 (Bethesda). 2016 ;6(12):3941-3950.
. A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics. Genome Med. 2016 ;8(1):13.
. Whole-Exome Sequencing in Familial Parkinson Disease. JAMA Neurol. 2016 ;73(1):68-75.
. DNA Methylation Analysis Identifies Loci for Blood Pressure Regulation. Am J Hum Genet. 2017 ;101(6):888-902.
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