Below are the most recent publications written about "Genetic Variation" by people in Profiles.
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Butchbach MER. Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development. Int J Mol Sci. 2021 Jul 23; 22(15).
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Mun S, Kim S, Lee W, Kang K, Meyer TJ, Han BG, Han K, Kim HS. A study of transposable element-associated structural variations (TASVs) using a de novo-assembled Korean genome. Exp Mol Med. 2021 04; 53(4):615-630.
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Choi T, Devries M, Bacharier LB, Busse W, Camargo CA, Cohen R, Demuri GP, Evans MD, Fitzpatrick AM, Gergen PJ, Grindle K, Gruchalla R, Hartert T, Hasegawa K, Khurana Hershey GK, Holt P, Homil K, Jartti T, Kattan M, Kercsmar C, Kim H, Laing IA, LeBeau P, Lee KE, Le Sou?f PN, Liu A, Mauger DT, Ober C, Pappas T, Patel SJ, Phipatanakul W, Pongracic J, Seroogy C, Sly PD, Tisler C, Wald ER, Wood R, Gangnon R, Jackson DJ, Lemanske RF, Gern JE, Bochkov YA. Enhanced Neutralizing Antibody Responses to Rhinovirus C and Age-Dependent Patterns of Infection. Am J Respir Crit Care Med. 2021 04 01; 203(7):822-830.
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Heron SE, Regan BM, Harris RV, Gardner AE, Coleman MJ, Bennett MF, Grinton BE, Helbig KL, Sperling MR, Haut S, Geller EB, Widdess-Walsh P, Pelekanos JT, Bahlo M, Petrovski S, Heinzen EL, Hildebrand MS, Corbett MA, Scheffer IE, Gécz J, Berkovic SF. Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus. Neurology. 2021 05 04; 96(18):e2251-e2260.
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Reis LM, Costakos D, Wheeler PG, Bardakjian T, Schneider A, Fung SSM, Semina EV. Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia. Clin Genet. 2021 03; 99(3):437-442.
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Sheng X, Qiu C, Liu H, Gluck C, Hsu JY, He J, Hsu CY, Sha D, Weir MR, Isakova T, Raj D, Rincon-Choles H, Feldman HI, Townsend R, Li H, Susztak K. Systematic integrated analysis of genetic and epigenetic variation in diabetic kidney disease. Proc Natl Acad Sci U S A. 2020 11 17; 117(46):29013-29024.
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Arora V, Khan S, W El-Hattab A, Dua Puri R, Rocha ME, Merdzanic R, Paknia O, Beetz C, Rolfs A, Bertoli-Avella AM, Bauer P, Verma IC. Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis. J Am Soc Nephrol. 2021 01; 32(1):223-228.
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Chen Y, Fang F, Kidwell KM, Vangipuram K, Marcath LA, Gersch CL, Rae JM, Hayes DF, Lavoie Smith EM, Henry NL, Beutler AS, Hertz DL. Genetic variation in Charcot-Marie-Tooth genes contributes to sensitivity to paclitaxel-induced peripheral neuropathy. Pharmacogenomics. 2020 08; 21(12):841-851.
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Ghazi AR, Kong X, Chen ES, Edelstein LC, Shaw CA. Bayesian modelling of high-throughput sequencing assays with malacoda. PLoS Comput Biol. 2020 07; 16(7):e1007504.
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Vogels CBF, Brito AF, Wyllie AL, Fauver JR, Ott IM, Kalinich CC, Petrone ME, Casanovas-Massana A, Catherine Muenker M, Moore AJ, Klein J, Lu P, Lu-Culligan A, Jiang X, Kim DJ, Kudo E, Mao T, Moriyama M, Oh JE, Park A, Silva J, Song E, Takahashi T, Taura M, Tokuyama M, Venkataraman A, Weizman OE, Wong P, Yang Y, Cheemarla NR, White EB, Lapidus S, Earnest R, Geng B, Vijayakumar P, Odio C, Fournier J, Bermejo S, Farhadian S, Dela Cruz CS, Iwasaki A, Ko AI, Landry ML, Foxman EF, Grubaugh ND. Analytical sensitivity and efficiency comparisons of SARS-CoV-2 RT-qPCR primer-probe sets. Nat Microbiol. 2020 10; 5(10):1299-1305.