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Page 1
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.
Nakajima M, Mizumoto S, Miyake N, Kogawa R, Iida A, Ito H, Kitoh H, Hirayama A, Mitsubuchi H, Miyazaki O, Kosaki R, Horikawa R, Lai A, Mendoza-Londono R, Dupuis L, Chitayat D, Howard A, Leal GF, Cavalcanti D, Tsurusaki Y, Saitsu H, Watanabe S, Lausch E, Unger S, Bonafé L, Ohashi H, Superti-Furga A, Matsumoto N, Sugahara K, Nishimura G, Ikegawa S. Nakajima M, et al. Am J Hum Genet. 2013 Jun 6;92(6):927-34. doi: 10.1016/j.ajhg.2013.04.003. Epub 2013 May 9. Am J Hum Genet. 2013. PMID: 23664117 Free PMC article.
Protocol for a Prospective, Observational Cost-effectiveness Analysis of Returning Secondary Findings of Genome Sequencing for Unexplained Suspected Genetic Conditions.
Ungar WJ, Hayeems RZ, Marshall CR, Gillespie MK, Szuto A, Chisholm C, James Stavropoulos D, Huang L, Jarinova O, Wu V, Tsiplova K, Lau L, Lee W, Venkataramanan V, Sawyer S, Mendoza-Londono R, Somerville MJ, Boycott KM; Genome Sequencing Ontario Secondary Findings Study Team. Ungar WJ, et al. Clin Ther. 2023 Aug;45(8):702-709. doi: 10.1016/j.clinthera.2023.06.004. Epub 2023 Jul 14. Clin Ther. 2023. PMID: 37453830
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Palmer EE, Pusch M, Picollo A, Forwood C, Nguyen MH, Suckow V, Gibbons J, Hoff A, Sigfrid L, Megarbane A, Nizon M, Cogné B, Beneteau C, Alkuraya FS, Chedrawi A, Hashem MO, Stamberger H, Weckhuysen S, Vanlander A, Ceulemans B, Rajagopalan S, Nunn K, Arpin S, Raynaud M, Motter CS, Ward-Melver C, Janssens K, Meuwissen M, Beysen D, Dikow N, Grimmel M, Haack TB, Clement E, McTague A, Hunt D, Townshend S, Ward M, Richards LJ, Simons C, Costain G, Dupuis L, Mendoza-Londono R, Dudding-Byth T, Boyle J, Saunders C, Fleming E, El Chehadeh S, Spitz MA, Piton A, Gerard B, Abi Warde MT, Rea G, McKenna C, Douzgou S, Banka S, Akman C, Bain JM, Sands TT, Wilson GN, Silvertooth EJ, Miller L, Lederer D, Sachdev R, Macintosh R, Monestier O, Karadurmus D, Collins F, Carter M, Rohena L, Willemsen MH, Ockeloen CW, Pfundt R, Kroft SD, Field M, Laranjeira FER, Fortuna AM, Soares AR, Michaud V, Naudion S, Golla S, Weaver DD, Bird LM, Friedman J, Clowes V, Joss S, Pölsler L, Campeau PM, Blazo M, Bijlsma EK, Rosenfeld JA, Beetz C, Powis Z, McWalter K, Brandt T, Torti E, Mathot M, Mohammad SS, Armstrong R, Kalscheuer VM. Palmer EE, et al. Mol Psychiatry. 2023 Feb;28(2):668-697. doi: 10.1038/s41380-022-01852-9. Epub 2022 Nov 16. Mol Psychiatry. 2023. PMID: 36385166 Free PMC article.
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.
Nishimura G, Dai J, Lausch E, Unger S, Megarbané A, Kitoh H, Kim OH, Cho TJ, Bedeschi F, Benedicenti F, Mendoza-Londono R, Silengo M, Schmidt-Rimpler M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A. Nishimura G, et al. Am J Med Genet A. 2010 Jun;152A(6):1443-9. doi: 10.1002/ajmg.a.33414. Am J Med Genet A. 2010. PMID: 20503319
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.
Unger S, Lausch E, Rossi A, Mégarbané A, Sillence D, Alcausin M, Aytes A, Mendoza-Londono R, Nampoothiri S, Afroze B, Hall B, Lo IF, Lam ST, Hoefele J, Rost I, Wakeling E, Mangold E, Godbole K, Vatanavicharn N, Franco LM, Chandler K, Hollander S, Velten T, Reicherter K, Spranger J, Robertson S, Bonafé L, Zabel B, Superti-Furga A. Unger S, et al. Am J Med Genet A. 2010 Oct;152A(10):2543-9. doi: 10.1002/ajmg.a.33641. Am J Med Genet A. 2010. PMID: 20830804
Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene.
Mendoza-Londono R, Chitayat D, Kahr WH, Hinek A, Blaser S, Dupuis L, Goh E, Badilla-Porras R, Howard A, Mittaz L, Superti-Furga A, Unger S, Nishimura G, Bonafe L. Mendoza-Londono R, et al. Am J Med Genet A. 2012 Jun;158A(6):1344-54. doi: 10.1002/ajmg.a.35339. Epub 2012 May 11. Am J Med Genet A. 2012. PMID: 22581468
111 results