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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.
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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.
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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.
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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.
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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.