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Mirzaa GM, Campbell CD, Solovieff N, et al. "Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism." JAMA Neurol. 2016;73(7):836-845.
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Wirka RC, Gore S, Van Wagoner DR, et al. "A common connexin-40 gene promoter variant affects connexin-40 expression in human atria and is associated with atrial fibrillation." Circ Arrhythm Electrophysiol. 2011;4(1):87-93.
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Evangelou E, Warren HR, Mosen-Ansorena D, et al. "Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits." Nat Genet. 2018;50(10):1412-1425.
Ehret GB, Ferreira T, Chasman DI, et al. "The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals." Nat Genet. 2016;48(10):1171-1184.
Huang J, Huffman JE, Yamakuchi M, et al. "Genome-wide association study for circulating tissue plasminogen activator levels and functional follow-up implicates endothelial STXBP5 and STX2." Arterioscler Thromb Vasc Biol. 2014;34(5):1093-101.
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Claussnitzer M, Dankel SN, Klocke B, et al. "Leveraging cross-species transcription factor binding site patterns: from diabetes risk loci to disease mechanisms." Cell. 2014;156(1-2):343-58.