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Journal Article
Dehghan A, Yang Q, Peters A, et al. "Association of novel genetic Loci with circulating fibrinogen levels: a genome-wide association study in 6 population-based cohorts." Circ Cardiovasc Genet. 2009;2(2):125-33.
Watkin LB, Jessen B, Wiszniewski W, et al. "COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis." Nat Genet. 2015;47(6):654-60.
Kessler MD, Loesch DP, Perry JA, et al. "De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population." Proc Natl Acad Sci U S A. 2020;117(5):2560-2569.
Erdmann J, Stark K, Esslinger UB, et al. "Dysfunctional nitric oxide signalling increases risk of myocardial infarction." Nature. 2013;504(7480):432-6.
Gonzaga-Jauregui C, Harel T, Gambin T, et al. "Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy." Cell Rep. 2015;12(7):1169-83.
Beck TF, Campeau PM, Jhangiani SN, et al. "FBN1 contributing to familial congenital diaphragmatic hernia." Am J Med Genet A. 2015;167A(4):831-6.
Karaca E, Harel T, Pehlivan D, et al. "Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease." Neuron. 2015;88(3):499-513.
Loomis SJ, Tin A, Coresh JJ, et al. "Heritability analysis of nontraditional glycemic biomarkers in the Atherosclerosis Risk in Communities Study." Genet Epidemiol. 2019;43(7):776-785.
Bainbridge MN, Davis EE, Choi W-Y, et al. "Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction." Circ Cardiovasc Genet. 2015;8(4):544-52.
Harel T, Yesil G, Bayram Y, et al. "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.
Feitosa MF, Kraja AT, Chasman DI, et al. "Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries." PLoS One. 2018;13(6):e0198166.
Gaubatz JW, Ghanem KI, Guevara J, Nava ML, Patsch W, Morrisett JD. "Polymorphic forms of human apolipoprotein[a]: inheritance and relationship of their molecular weights to plasma levels of lipoprotein[a]." J Lipid Res. 1990;31(4):603-13.
Sadler B, Haller G, Antunes L, et al. "Rare and duplications containing in clubfoot." J Med Genet. 2020;57(12):851-857.
Lalani SR, Liu P, Rosenfeld JA, et al. "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.
Chiang CWK, Liu C-T, Lettre G, et al. "Ultraconserved elements in the human genome: association and transmission analyses of highly constrained single-nucleotide polymorphisms." Genetics. 2012;192(1):253-66.