Publications
The landscape of tolerated genetic variation in humans and primates. bioRxiv. 2023 ;.
. The landscape of tolerated genetic variation in humans and primates. Science. 2023 ;380(6648):eabn8153.
. . . Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism. Hum Mutat. 2022 ;43(12):2033-2053.
. Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis. Dev Cell. 2022 ;57(20):2381-2396.e13.
. Large-scale plasma proteomic analysis identifies proteins and pathways associated with dementia risk. Nat Aging. 2021 ;1(5):473-489.
. Large-scale sequencing studies expand the known genetic architecture of Alzheimer's disease. Alzheimers Dement (Amst). 2021 ;13(1):e12255.
. Lifestyle Risk Score: handling missingness of individual lifestyle components in meta-analysis of gene-by-lifestyle interactions. Eur J Hum Genet. 2021 ;29(5):839-850.
. Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy. Am J Hum Genet. 2021 ;108(7):1301-1317.
. Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions. Genet Med. 2020 ;22(11):1768-1776.
. Leveraging Human Microbiome Features to Diagnose and Stratify Children with Irritable Bowel Syndrome. J Mol Diagn. 2019 ;21(3):449-461.
. . A Landscape of Metabolic Variation across Tumor Types. Cell Syst. 2018 ;6(3):301-313.e3.
. Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. Nat Genet. 2017 ;49(6):946-952.
. Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 ;9(1):26.
. 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.
. Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration. Neuron. 2017 ;93(1):115-131.
. Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. Am J Hum Genet. 2017 ;101(1):123-129.
. Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases. Am J Hum Genet. 2016 ;99(1):22-39.
. Loss-of-function variants influence the human serum metabolome. Sci Adv. 2016 ;2(8):e1600800.
. Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair. Nat Genet. 2015 ;47(11):1294-303.
. Lipoprotein associated phospholipase A2 activity, apolipoprotein C3 loss-of-function variants and cardiovascular disease: The Atherosclerosis Risk In Communities Study. Atherosclerosis. 2015 ;241(2):641-8.
. Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction. Circ Cardiovasc Genet. 2015 ;8(4):544-52.
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