Below are the most recent publications written about "Pedigree" by people in Profiles.
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Riser MM, Russenberger J, Zimmermann M, Chen FL, Moeser C, Leighton E, Fragomeni B. Genomic information increases prediction accuracy of behavior traits of Labrador Retrievers used as guide dogs. Genet Sel Evol. 2026 Mar 01; 58(1).
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van Bergen T, Bosch DA, Bellann?-Chantelot C, Mulet-Lazaro R, Bledsoe JR, Chen L, de Looper HWJ, van Dijk C, Ter Borg MND, Bindels EMJ, Hoogenboezem RM, Roovers O, Olofsen PA, Bartels M, van Montfrans J, Breed P, Salzer E, Holierhoek MG, Nelken B, Beaupain B, Fleming MD, Shimamura A, Raaijmakers MHGP, Donadieu J, Newburger PE, Touw IP, Aalbers AM. Germ line LCP1 mutations cause immunodeficiency with neutropenia, monocytopenia, lymphopenia, and defective cytokinesis. Blood Adv. 2026 Feb 10; 10(3):627-641.
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Chacon-Millan P, Delicato A, Mahmood A, Tirozzi A, Monfregola J, Duroure K, Serafini M, Kroll F, El-Hage O, Salah S, Atawneh OM, Atik T, Durmusalioglu EA, Isik E, Almontashiri NAM, Tabarki B, Kanaan M, Rabie G, Torella A, Spampanato C, Battaglia DI, Begemann A, Steindl K, Rauch A, Zweier M, Hajianpour M, Brigatti KW, Alhashem A, Maroofian R, Feigerlova E, Lambert L, Feillet F, Abbott MA, D'Alessio AM, Gonzaga-Jauregui C, Tawk M, De Matteis MA, Del Bene F, Zollino M, Nigro V, Venditti R, Franco B, Morleo M. Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking. Am J Hum Genet. 2026 Mar 05; 113(3):562-581.
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Comiskey DF, Liyanarachchi S, Wu J, Sheikh MS, Hendrickson IV, Brock PL, Ringel MD, Nieminen TT. Identification of Rare Noncoding Variants in Familial Nonmedullary Thyroid Carcinoma. Thyroid. 2026 Feb; 36(2):169-176.
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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 07 01; 11(3).
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Wu P, Song N, Xiang Y, Tao Z, Mao B, Guo R, Wang X, Wu D, Zhang Z, Chen X, Ma D, Zhang T, Hao B, Ma J. FOXK2 in skeletal muscle development: a new pathogenic gene for congenital myopathy with ptosis. EMBO Mol Med. 2025 Jul; 17(7):1599-1630.
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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.