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Page 1
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Sanchis-Juan A, Megy K, Stephens J, Armirola Ricaurte C, Dewhurst E, Low K, French CE, Grozeva D, Stirrups K, Erwood M, McTague A, Penkett CJ, Shamardina O, Tuna S, Daugherty LC, Gleadall N, Duarte ST, Hedrera-Fernández A, Vogt J, Ambegaonkar G, Chitre M, Josifova D, Kurian MA, Parker A, Rankin J, Reid E, Wakeling E, Wassmer E, Woods CG; NIHR BioResource; Raymond FL, Carss KJ. Sanchis-Juan A, et al. Among authors: woods cg. Am J Hum Genet. 2023 Aug 3;110(8):1343-1355. doi: 10.1016/j.ajhg.2023.07.007. Am J Hum Genet. 2023. PMID: 37541188 Free PMC article.
The role of genomic imprinting.
Woods CG, Danks DM. Woods CG, et al. Med J Aust. 1993 Jun 21;158(12):801-2. doi: 10.5694/j.1326-5377.1993.tb137663.x. Med J Aust. 1993. PMID: 8326886 No abstract available.
Sodium channels Nav1.7, Nav1.8 and pain; two distinct mechanisms for Nav1.7 null analgesia.
Iseppon F, Kanellopoulos AH, Tian N, Zhou J, Caan G, Chiozzi R, Thalassinos K, Çubuk C, Lewis MJ, Cox JJ, Zhao J, Woods CG, Wood JN. Iseppon F, et al. Among authors: woods cg. Neurobiol Pain. 2024 Oct 11;16:100168. doi: 10.1016/j.ynpai.2024.100168. eCollection 2024 Jul-Dec. Neurobiol Pain. 2024. PMID: 39559752 Free PMC article.
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA, Barry BJ, Chan WM, MacKinnon S, Whitman MC, Matos Ruiz PM, Pratt BM, England EM, Pais L, Lemire G, Groopman E, Glaze C, Russell KA, Singer-Berk M, Di Gioia SA, Lee AS, Andrews C, Shaaban S, Wirth MM, Bekele S, Toffoloni M, Bradford VR, Foster EE, Berube L, Rivera-Quiles C, Mensching FM, Sanchis-Juan A, Fu JM, Wong I, Zhao X, Wilson MW, Weisburd B, Lek M; Ocular CCDD Phenotyping Consortium; Brand H, Talkowski ME, MacArthur DG, O'Donnell-Luria A, Robson CD, Hunter DG, Engle EC. Jurgens JA, et al. Genet Med. 2024 Jul 17:101216. doi: 10.1016/j.gim.2024.101216. Online ahead of print. Genet Med. 2024. PMID: 39033378 Free article.
Midfacial toddler excoriation syndrome (MiTES): case series, diagnostic criteria and evidence for a pathogenic mechanism.
Sarveswaran N, Pamela Y, Reddy AAN, Mustari AP, Parthasarathi A, Mancini AJ, Bishnoi A, Inamadar AC, Olabi B, Browne F, Deshmukh GN, McWilliam K, Vinay K, Srinivas S, Ibbs S, Natarajan S, Rao VR, Zawar V, Gowda VK, Shaikh SS, Moss C, Woods CG, Drissi I. Sarveswaran N, et al. Among authors: woods cg. Br J Dermatol. 2024 Aug 14;191(3):437-446. doi: 10.1093/bjd/ljae151. Br J Dermatol. 2024. PMID: 38591490 Free PMC article.
Evidence of a genetic background predisposing to complex regional pain syndrome type 1.
Shaikh SS, Goebel A, Lee MC, Nahorski MS, Shenker N, Pamela Y, Drissi I, Brown C, Ison G, Shaikh MF, Kuttikat A, Woods WA, Dixit A, Stouffer K, Clarke MC, Menon DK, Woods CG. Shaikh SS, et al. Among authors: woods cg. J Med Genet. 2024 Jan 19;61(2):163-170. doi: 10.1136/jmg-2023-109236. J Med Genet. 2024. PMID: 37816627 Free PMC article.
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Lischka A, Eggermann K, Record CJ, Dohrn MF, Laššuthová P, Kraft F, Begemann M, Dey D, Eggermann T, Beijer D, Šoukalová J, Laura M, Rossor AM, Mazanec R, Van Lent J, Tomaselli PJ, Ungelenk M, Debus KY, Feely SME, Gläser D, Jagadeesh S, Martin M, Govindaraj GM, Singhi P, Baineni R, Biswal N, Ibarra-Ramírez M, Bonduelle M, Gess B, Romero Sánchez J, Suthar R, Udani V, Nalini A, Unnikrishnan G, Marques W Junior, Mercier S, Procaccio V, Bris C, Suresh B, Reddy V, Skorupinska M, Bonello-Palot N, Mochel F, Dahl G, Sasidharan K, Devassikutty FM, Nampoothiri S, Rodovalho Doriqui MJ, Müller-Felber W, Vill K, Haack TB, Dufke A, Abele M, Stucka R, Siddiqi S, Ullah N, Spranger S, Chiabrando D, Bolgül BS, Parman Y, Seeman P, Lampert A, Schulz JB, Wood JN, Cox JJ, Auer-Grumbach M, Timmerman V, de Winter J, Themistocleous AC, Shy M, Bennett DL, Baets J, Hübner CA, Leipold E, Züchner S, Elbracht M, Çakar A, Senderek J, Hornemann T, Woods CG, Reilly MM, Kurth I. Lischka A, et al. Among authors: woods cg. Brain. 2023 Dec 1;146(12):4880-4890. doi: 10.1093/brain/awad328. Brain. 2023. PMID: 37769650 Free PMC article.
262 results