Publications
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet. 2016 ;99(4):831-845.
. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. Am J Hum Genet. 2016 ;98(2):347-57.
. On Robust Association Testing for Quantitative Traits and Rare Variants. G3 (Bethesda). 2016 ;6(12):3941-3950.
. WGSA: an annotation pipeline for human genome sequencing studies. J Med Genet. 2016 ;53(2):111-2.
. Whole Exome Sequencing in Atrial Fibrillation. PLoS Genet. 2016 ;12(9):e1006284.
. Whole genome sequence analysis of serum amino acid levels. Genome Biol. 2016 ;17(1):237.
. Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis. Am J Hum Genet. 2016 ;99(2):481-8.
. Whole-Exome Sequencing in Familial Parkinson Disease. JAMA Neurol. 2016 ;73(1):68-75.
. Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome. Cold Spring Harb Mol Case Stud. 2016 ;2(6):a001255.
. The Alzheimer's Disease Sequencing Project: Study design and sample selection. Neurol Genet. 2017 ;3(5):e194.
. Analysis commons, a team approach to discovery in a big-data environment for genetic epidemiology. Nat Genet. 2017 ;49(11):1560-1563.
. ANGPTL3 Deficiency and Protection Against Coronary Artery Disease. J Am Coll Cardiol. 2017 ;69(16):2054-2063.
. Association between mitochondrial DNA copy number and sudden cardiac death: findings from the Atherosclerosis Risk in Communities study (ARIC). Eur Heart J. 2017 ;38(46):3443-3448.
. Association of Body Mass Index with DNA Methylation and Gene Expression in Blood Cells and Relations to Cardiometabolic Disease: A Mendelian Randomization Approach. PLoS Med. 2017 ;14(1):e1002215.
. The association of lipoprotein(a) with incident heart failure hospitalization: Atherosclerosis Risk in Communities study. Atherosclerosis. 2017 ;262:131-137.
. Creating a data resource: what will it take to build a medical information commons?. Genome Med. 2017 ;9(1):84.
. DNA Methylation Analysis Identifies Loci for Blood Pressure Regulation. Am J Hum Genet. 2017 ;101(6):888-902.
. Exome-wide association study of plasma lipids in >300,000 individuals. Nat Genet. 2017 ;49(12):1758-1766.
. An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans. Diabetes. 2017 ;66(11):2888-2902.
. Fifteen new risk loci for coronary artery disease highlight arterial-wall-specific mechanisms. Nat Genet. 2017 ;49(7):1113-1119.
. Genetic variants associated with risk of Alzheimer's disease contribute to cognitive change in midlife: The Atherosclerosis Risk in Communities Study. Am J Med Genet B Neuropsychiatr Genet. 2017 ;174(3):269-282.
. Genome-wide association study of 1,5-anhydroglucitol identifies novel genetic loci linked to glucose metabolism. Sci Rep. 2017 ;7(1):2812.
. Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res. 2017 ;45(4):1633-1648.
. Incident Heart Failure and Cognitive Decline: The Atherosclerosis Risk in Communities Study. J Card Fail. 2017 ;23(1):47-55.
. Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. Nat Genet. 2017 ;49(6):946-952.
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