Below are the most recent publications written about "Pedigree" by people in Profiles.
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Hengel H, Hannan SB, Reich S, Beijer D, Roller J, Gilsbach BK, Gloeckner CJ, Greene D, Timmann D, Depienne C, Mumford A, O'Driscoll M, Nemeth AH, Lundberg J, Rodan LH, Bruel AL, Delanne J, Deconinck T, Baets J, Gan-Or Z, Rouleau G, Suchowersky O, Estiar MA, Reich S, Toro C, Z?chner S, Hazan J, P?tursson H, Harmuth F, Bauer C, Bauer P, Turro E, Lambright D, Sch?ls L, Synofzik M. Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism. Brain. 2025 Aug 01; 148(8):2812-2826.
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Veerabhadraiah SR, Matheson DJ, Honeggar M, Aslor C, Zelada AC, Stubben C, Stoddard GJ, Kazmers NH, Grunwald DJ, Jurynec MJ. WNK2 variants associated with familial osteoarthritis alter the chondrocyte response to hyperosmotic stress. RMD Open. 2025 Jul 01; 11(3).
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Miller BR, Gonzaga-Jauregui C, Brigatti KW, de Jong J, Breese RS, Ko SY, Puffenberger EG, Van Hout C, Young M, Luna VM, Staples J, First MB, Gregoire HJ, Dwork AJ, Pefanis E, McCarthy S, Brydges S, Rojas J, Ye B, Stahl E, Di Gioia SA, Hen R, Elwood K, Rosoklija G, Li D, Mellis S, Carey D, Croll SD, Overton JD, Macdonald LE, Economides AN, Shuldiner AR, Chuhma N, Rayport S, Amin N, Kushner SA, Alessandri-Haber N, Markx S, Strauss KA. A rare variant in GPR156 associated with depression in a Mennonite pedigree causes habenula hyperactivity and stress sensitivity in mice. Proc Natl Acad Sci U S A. 2025 Apr 22; 122(16):e2404754122.
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Seddon JM, De D, Grunenkovaite L, Ferrara D. Clinical and Imaging Characteristics of PRPH2 Retinopathies in a Longitudinal Cohort and Diagnostic Implications. Invest Ophthalmol Vis Sci. 2024 Dec 02; 65(14):31.
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Hop PJ, Lai D, Keagle PJ, Baron DM, Kenna BJ, Kooyman M, Halter C, Straniero L, Asselta R, Bonvegna S, Soto-Beasley AI, Wszolek ZK, Uitti RJ, Isaias IU, Pezzoli G, Ticozzi N, Ross OA, Veldink JH, Foroud TM, Kenna KP, Landers JE. Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson's disease. Nat Genet. 2024 Jul; 56(7):1371-1376.
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Brock P, Sevigny M, Liyanarachchi S, Comiskey DF, Li W, Saarinen S, Yilmaz AS, Nieminen AI, Ringel MD, Peltom?ki P, Ollila S, Nieminen TT. PDPR Gene Variants Predisposing to Papillary Thyroid Cancer. Thyroid. 2024 05; 34(5):575-582.
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Protasova MS, Andreeva TV, Klyushnikov SA, Illarioshkin SN, Rogaev EI. Genetic Variant in GRM1 Underlies Congenital Cerebellar Ataxia with No Obvious Intellectual Disability. Int J Mol Sci. 2023 Jan 12; 24(2).
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Protasova MS, Gusev FE, Andreeva TV, Klyushnikov SA, Illarioshkin SN, Rogaev EI. Novel genes bearing mutations in rare cases of early-onset ataxia with cerebellar hypoplasia. Eur J Hum Genet. 2022 06; 30(6):703-711.
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Bilches Medinas D, Malik S, Yildiz-B?l?kbasi E, Borgonovo J, Saaranen MJ, Urra H, Pulgar E, Afzal M, Contreras D, Wright MT, Bodaleo F, Quiroz G, Rozas P, Mumtaz S, D?az R, Rozas C, Cabral-Miranda F, Pi?a R, Valenzuela V, Uyan O, Reardon C, Woehlbier U, Brown RH, Sena-Esteves M, Gonzalez-Billault C, Morales B, Plate L, Ruddock LW, Concha ML, Hetz C, Tolun A. Mutation in protein disulfide isomerase A3 causes neurodevelopmental defects by disturbing endoplasmic reticulum proteostasis. EMBO J. 2022 12 17; 41(2):e105531.
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Choi H, Cloutier A, Lally D. PRPH2-Associated Macular Dystrophy in 4 Family Members with a Novel Mutation. Ophthalmic Genet. 2022 04; 43(2):235-239.