Below are the most recent publications written about "Genotype" by people in Profiles.
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Nagy A, Eichler F, Bley A, Bredow J, Fay A, Townsend EL, Leiro B, Shaywitz A, Laforet G, Crippen-Harmon D, Williams R. Urine N-Acetylaspartate Distinguishes Phenotypes in Canavan Disease. Hum Gene Ther. 2024 Jan; 36(1-2):45-56.
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Grady LO, Zoltick ES, Zouk H, He W, Perez E, Clarke L, Gold J, Strong A, Sahai I, Yeo J, Green RC, Karaa A, Gold NB. Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I. Am J Med Genet A. 2025 Apr; 197(4):e63940.
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Halvorsen MW, de Schipper E, B?ckman J, Strom NI, Hagen K, Lindblad-Toh K, Karlsson EK, Pedersen NL, Wallert J, Bulik CM, Fund?n B, Land?n M, Kvale G, Hansen B, Haavik J, Mattheisen M, R?ck C, Mataix-Cols D, Crowley JJ. A burden of rare copy number variants in obsessive-compulsive disorder. Mol Psychiatry. 2025 Apr; 30(4):1510-1517.
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Blanchard MW, Sigmon JS, Brennan J, Ahulamibe C, Allen ME, Ardery S, Baric RS, Bell TA, Farrington J, Ciavatta D, Cruz Cisneros MC, Drushal M, Ferris MT, Fry RC, Gaines C, Gu B, Heise MT, Hock P, Hodges RA, Hulgin M, Kafri T, Lynch RM, Magnuson T, Miller DR, Murphy CEY, Nguyen DT, Noll KE, Proulx MK, Sassetti CM, Schoenrock SA, Shaw GD, Simon JM, Smith CM, Styblo M, Tarantino LM, Woo J, Pardo Manuel de Villena F. The updated mouse universal genotyping array bioinformatic pipeline improves genetic QC in laboratory mice. G3 (Bethesda). 2024 Oct 07; 14(10).
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de Vries VA, Hanyuda A, Vergroesen JE, Do R, Friedman DS, Kraft P, Turman C, Luo YL, Tran JH, Liefers B, Wong SH, Lee RH, Zebardast N, Klaver CCW, Segr? AV, Pasquale LR, Wiggs JL, Kang JH, Ramdas WD. The Clinical Usefulness of a Glaucoma Polygenic Risk Score in 4 Population-Based European Ancestry Cohorts. Ophthalmology. 2025 Feb; 132(2):228-237.
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Connelly SV, Brazeau NF, Msellem M, Ngasala BE, Aydemir O, Goel V, Niar? K, Giesbrecht DJ, Popkin-Hall ZR, Hennelly C, Park Z, Moormann AM, Ong'echa JM, Verity R, Mohammed S, Shija SJ, Mhamilawa LE, Morris U, M?rtensson A, Lin JT, Bj?rkman A, Juliano JJ, Bailey JA. Strong isolation by distance and evidence of population microstructure reflect ongoing Plasmodium falciparum transmission in Zanzibar. Elife. 2024 Jun 27; 12.
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Bonaventura J, Rowin EJ, Chan RH, Chin MT, Puchnerova V, Polakova E, Macek M, Votypka P, Batorsky R, Perera G, Koethe B, Veselka J, Maron BJ, Maron MS. Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy. J Am Heart Assoc. 2024 May 21; 13(10):e033565.
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Gustavson DE, Elman JA, Reynolds CA, Eyler LT, Fennema-Notestine C, Puckett OK, Panizzon MS, Gillespie NA, Neale MC, Lyons MJ, Franz CE, Kremen WS. Brain reserve in midlife is associated with executive function changes across 12 years. Neurobiol Aging. 2024 Sep; 141:113-120.
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Kinnear C, Said A, Meng G, Zhao Y, Wang EY, Rafatian N, Parmar N, Wei W, Billia F, Simmons CA, Radisic M, Ellis J, Mital S. Myosin inhibitor reverses hypertrophic cardiomyopathy in genotypically diverse pediatric iPSC-cardiomyocytes to mirror variant correction. Cell Rep Med. 2024 May 21; 5(5):101520.
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Leung YY, Naj AC, Chou YF, Valladares O, Schmidt M, Hamilton-Nelson K, Wheeler N, Lin H, Gangadharan P, Qu L, Clark K, Kuzma AB, Lee WP, Cantwell L, Nicaretta H, Haines J, Farrer L, Seshadri S, Brkanac Z, Cruchaga C, Pericak-Vance M, Mayeux RP, Bush WS, Destefano A, Martin E, Schellenberg GD, Wang LS. Human whole-exome genotype data for Alzheimer's disease. Nat Commun. 2024 Jan 23; 15(1):684.