Publications
The gut mycobiome of the Human Microbiome Project healthy cohort. Microbiome. 2017 ;5(1):153.
. House spider genome uncovers evolutionary shifts in the diversity and expression of black widow venom proteins associated with extreme toxicity. BMC Genomics. 2017 ;18(1):178.
. Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance. Hum Mutat. 2017 ;38(11):1521-1533.
. Rare and low-frequency coding variants alter human adult height. Nature. 2017 ;542(7640):186-190.
. Recommended Guidelines for Validation, Quality Control, and Reporting of Variants in Clinical Practice. Cancer Res. 2017 ;77(6):1250-1260.
. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. Am J Hum Genet. 2017 ;100(2):343-351.
. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017 ;376(1):21-31.
. SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads. BMC Genomics. 2017 ;18(Suppl 6):691.
. 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.
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