Below are the most recent publications written about "Genome, Human" by people in Profiles.
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Karavite D, Terek S, Connolly JJ, Harr M, Muthu N, Hakonarson H, Grundmeier RW. A Comprehensive Approach to Clinical Decision Support in the Return of Genome Informed Risk Assessments to Primary Care Pediatricians. Appl Clin Inform. 2025 01; 16(1):193-204.
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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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Matsumoto Y, Brooks RC, Sverzhinsky A, Pascal JM, Tomkinson AE. Dynamic DNA-bound PCNA complexes co-ordinate Okazaki fragment synthesis, processing and ligation. J Mol Biol. 2020 12 04; 432(24):166698.
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Daniels J, Doukas PG, Escala MEM, Ringbloom KG, Shih DJH, Yang J, Tegtmeyer K, Park J, Thomas JJ, Selli ME, Altunbulakli C, Gowthaman R, Mo SH, Jothishankar B, Pease DR, Pro B, Abdulla FR, Shea C, Sahni N, Gru AA, Pierce BG, Louissaint A, Guitart J, Choi J. Cellular origins and genetic landscape of cutaneous gamma delta T cell lymphomas. Nat Commun. 2020 04 14; 11(1):1806.
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Rehman AU, Peter VG, Quinodoz M, Dawood M, Rivolta C. Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa. Clin Dysmorphol. 2020 Apr; 29(2):86-89.
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Carvajal-Garcia J, Cho JE, Carvajal-Garcia P, Feng W, Wood RD, Sekelsky J, Gupta GP, Roberts SA, Ramsden DA. Mechanistic basis for microhomology identification and genome scarring by polymerase theta. Proc Natl Acad Sci U S A. 2020 04 14; 117(15):8476-8485.
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Bahrambeigi V, Song X, Sperle K, Beck CR, Hijazi H, Grochowski CM, Gu S, Seeman P, Woodward KJ, Carvalho CMB, Hobson GM, Lupski JR. Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants. Genome Med. 2019 12 09; 11(1):80.
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Gomez-Ospina N, Scharenberg SG, Mostrel N, Bak RO, Mantri S, Quadros RM, Gurumurthy CB, Lee C, Bao G, Suarez CJ, Khan S, Sawamoto K, Tomatsu S, Raj N, Attardi LD, Aurelian L, Porteus MH. Human genome-edited hematopoietic stem cells phenotypically correct Mucopolysaccharidosis type I. Nat Commun. 2019 09 06; 10(1):4045.
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Tziotzios C, Petridis C, Dand N, Ainali C, Saklatvala JR, Pullabhatla V, Onoufriadis A, Pramanik R, Baudry D, Lee SH, Wood K, Liu L, Seegobin S, Michelotti GA, Lwin SM, Christou EAA, Curtis CJ, de Rinaldis E, Saxena A, Holmes S, Harries M, Palamaras I, Cunningham F, Parkins G, Kaur M, Farrant P, McDonagh A, Messenger A, Jones J, Jolliffe V, Ali I, Ardern-Jones M, Mitchell C, Burrows N, Atkar R, Banfield C, Alexandroff A, Champagne C, Cooper HL, Va??-Galv?n S, Molina-Ruiz AM, Perez NO, Patel GK, Macbeth A, Page M, Bryden A, Mowbray M, Wahie S, Armstrong K, Cooke N, Goodfield M, Man I, de Berker D, Dunnill G, Takwale A, Rao A, Siah TW, Sinclair R, Wade MS, Dlova NC, Setterfield J, Lewis F, Bhargava K, Kirkpatrick N, Estivill X, Stefanato CM, Flohr C, Spector T, Watt FM, Smith CH, Barker JN, Fenton DA, Simpson MA, McGrath JA. Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02. Nat Commun. 2019 03 08; 10(1):1150.
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Brown AJ, Mao P, Smerdon MJ, Wyrick JJ, Roberts SA. Nucleosome positions establish an extended mutation signature in melanoma. PLoS Genet. 2018 11; 14(11):e1007823.