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Page 1
An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa-Responsive Dystonia.
El-Wahsh S, Fellner A, Hobbs M, Copty J, Deveson I, Stevanovski I, Stoll M, Zhu D, Narayanan RK, Grosz B, Worgan L, Cheong PL, Yeow D, Rudaks L, Hasan MM, Hayes VM, Kennerson M, Kumar KR, Hayes M. El-Wahsh S, et al. Among authors: copty j. Mov Disord Clin Pract. 2024 May;11(5):582-585. doi: 10.1002/mdc3.14023. Epub 2024 Mar 18. Mov Disord Clin Pract. 2024. PMID: 38497520 Free PMC article. No abstract available.
Deep sequencing of proteotoxicity modifier genes uncovers a Presenilin-2/beta-amyloid-actin genetic risk module shared among alpha-synucleinopathies.
Nazeen S, Wang X, Zielinski D, Lam I, Hallacli E, Xu P, Ethier E, Strom R, Zanella CA, Nithianandam V, Ritter D, Henderson A, Saurat N, Afroz J, Nutter-Upham A, Benyamini H, Copty J, Ravishankar S, Morrow A, Mitchel J, Neavin D, Gupta R, Farbehi N, Grundman J, Myers RH, Scherzer CR, Trojanowski JQ, Van Deerlin VM, Cooper AA, Lee EB, Erlich Y, Lindquist S, Peng J, Geschwind DH, Powell J, Studer L, Feany MB, Sunyaev SR, Khurana V. Nazeen S, et al. Among authors: copty j. bioRxiv [Preprint]. 2024 Mar 7:2024.03.03.583145. doi: 10.1101/2024.03.03.583145. bioRxiv. 2024. PMID: 38496508 Free PMC article. Preprint.
Heritable defects in telomere and mitotic function selectively predispose to sarcomas.
Ballinger ML, Pattnaik S, Mundra PA, Zaheed M, Rath E, Priestley P, Baber J, Ray-Coquard I, Isambert N, Causeret S, van der Graaf WTA, Puri A, Duffaud F, Le Cesne A, Seddon B, Chandrasekar C, Schiffman JD, Brohl AS, James PA, Kurtz JE, Penel N, Myklebost O, Meza-Zepeda LA, Pickett H, Kansara M, Waddell N, Kondrashova O, Pearson JV, Barbour AP, Li S, Nguyen TL, Fatkin D, Graham RM, Giannoulatou E, Green MJ, Kaplan W, Ravishankar S, Copty J, Powell JE, Cuppen E, van Eijk K, Veldink J, Ahn JH, Kim JE, Randall RL, Tucker K, Judson I, Sarin R, Ludwig T, Genin E, Deleuze JF; French Exome Project Consortium; Haber M, Marshall G, Cairns MJ, Blay JY; International Sarcoma Kindred Study; Thomas DM, Tattersall M, Neuhaus S, Lewis C, Tucker K, Carey-Smith R, Wood D, Porceddu S, Dickinson I, Thorne H, James P, Ray-Coquard I, Blay JY, Cassier P, Le Cesne A, Duffaud F, Penel N, Isambert N, Kurtz JE, Puri A, Sarin R, Ahn JH, Kim JE, Ward I, Judson I, van der Graaf W, Seddon B, Chandrasekar C, Rickar R, Hennig I, Schiffman J, Randall RL, Silvestri A, Zaratzian A, Tayao M, Walwyn K, Niedermayr E, Mang D, Clark R, Thorpe T, MacDonald J, Riddell K, Mar J, Fennelly V, Wicht A, Zielony B, Gallig… See abstract for full author list ➔ Ballinger ML, et al. Among authors: copty j. Science. 2023 Jan 20;379(6629):253-260. doi: 10.1126/science.abj4784. Epub 2023 Jan 19. Science. 2023. PMID: 36656928
Low disease risk and penetrance in Leber hereditary optic neuropathy.
Watson EC, Davis RL, Ravishankar S, Copty J, Kummerfeld S, Sue CM. Watson EC, et al. Among authors: copty j. Am J Hum Genet. 2023 Jan 5;110(1):166-169. doi: 10.1016/j.ajhg.2022.11.013. Epub 2022 Dec 23. Am J Hum Genet. 2023. PMID: 36565700 Free PMC article.
RAC: Repository of Antibiotic resistance Cassettes.
Tsafnat G, Copty J, Partridge SR. Tsafnat G, et al. Among authors: copty j. Database (Oxford). 2011 Dec 2;2011:bar054. doi: 10.1093/database/bar054. Print 2011. Database (Oxford). 2011. PMID: 22140215 Free PMC article.