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Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
Harms FL, Girisha KM, Hardigan AA, Kortüm F, Shukla A, Alawi M, Dalal A, Brady L, Tarnopolsky M, Bird LM, Ceulemans S, Bebin M, Bowling KM, Hiatt SM, Lose EJ, Primiano M, Chung WK, Juusola J, Akdemir ZC, Bainbridge M, Charng WL, Drummond-Borg M, Eldomery MK, El-Hattab AW, Saleh MAM, Bézieau S, Cogné B, Isidor B, Küry S, Lupski JR, Myers RM, Cooper GM, Kutsche K. Harms FL, et al. Among authors: kury s. Am J Hum Genet. 2017 Jan 5;100(1):117-127. doi: 10.1016/j.ajhg.2016.11.012. Epub 2016 Dec 22. Am J Hum Genet. 2017. PMID: 28017373 Free PMC article.
Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations.
Thomas M, Su YR, Rosenthal EA, Sakoda LC, Schmit SL, Timofeeva MN, Chen Z, Fernandez-Rozadilla C, Law PJ, Murphy N, Carreras-Torres R, Diez-Obrero V, van Duijnhoven FJB, Jiang S, Shin A, Wolk A, Phipps AI, Burnett-Hartman A, Gsur A, Chan AT, Zauber AG, Wu AH, Lindblom A, Um CY, Tangen CM, Gignoux C, Newton C, Haiman CA, Qu C, Bishop DT, Buchanan DD, Crosslin DR, Conti DV, Kim DH, Hauser E, White E, Siegel E, Schumacher FR, Rennert G, Giles GG, Hampel H, Brenner H, Oze I, Oh JH, Lee JK, Schneider JL, Chang-Claude J, Kim J, Huyghe JR, Zheng J, Hampe J, Greenson J, Hopper JL, Palmer JR, Visvanathan K, Matsuo K, Matsuda K, Jung KJ, Li L, Le Marchand L, Vodickova L, Bujanda L, Gunter MJ, Matejcic M, Jenkins MA, Slattery ML, D'Amato M, Wang M, Hoffmeister M, Woods MO, Kim M, Song M, Iwasaki M, Du M, Udaltsova N, Sawada N, Vodicka P, Campbell PT, Newcomb PA, Cai Q, Pearlman R, Pai RK, Schoen RE, Steinfelder RS, Haile RW, Vandenputtelaar R, Prentice RL, Küry S, Castellví-Bel S, Tsugane S, Berndt SI, Lee SC, Brezina S, Weinstein SJ, Chanock SJ, Jee SH, Kweon SS, Vadaparampil S, Harrison TA, Yamaji T, Keku TO, Vymetalkova V, Arndt V, Jia WH, Shu XO, Lin Y, Ahn YO, Stadler ZK, Van Gue… See abstract for full author list ➔ Thomas M, et al. Among authors: kury s. Nat Commun. 2023 Oct 2;14(1):6147. doi: 10.1038/s41467-023-41819-0. Nat Commun. 2023. PMID: 37783704 Free PMC article.
[Molecular bases of acrodermatitis enteropathica].
Küry S, Bézieau S, Moisan JP. Küry S, et al. Med Sci (Paris). 2004 Dec;20(12):1070-2. doi: 10.1051/medsci/200420121070. Med Sci (Paris). 2004. PMID: 15581456 Free article. French. No abstract available.
Clinical utility gene card for: acrodermatitis enteropathica.
Küry S, Kharfi M, Schmitt S, Bézieau S. Küry S, et al. Eur J Hum Genet. 2012 Mar;20(3). doi: 10.1038/ejhg.2011.227. Epub 2011 Dec 14. Eur J Hum Genet. 2012. PMID: 22166942 Free PMC article. No abstract available.
Clinical utility gene card for: biotinidase deficiency.
Küry S, Ramaekers V, Bézieau S, Wolf B. Küry S, et al. Eur J Hum Genet. 2012 May;20(5). doi: 10.1038/ejhg.2012.28. Epub 2012 Feb 29. Eur J Hum Genet. 2012. PMID: 22378278 Free PMC article. No abstract available.
Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.
Mercier S, Küry S, Shaboodien G, Houniet DT, Khumalo NP, Bou-Hanna C, Bodak N, Cormier-Daire V, David A, Faivre L, Figarella-Branger D, Gherardi RK, Glen E, Hamel A, Laboisse C, Le Caignec C, Lindenbaum P, Magot A, Munnich A, Mussini JM, Pillay K, Rahman T, Redon R, Salort-Campana E, Santibanez-Koref M, Thauvin C, Barbarot S, Keavney B, Bézieau S, Mayosi BM. Mercier S, et al. Among authors: kury s. Am J Hum Genet. 2013 Dec 5;93(6):1100-7. doi: 10.1016/j.ajhg.2013.10.013. Epub 2013 Nov 21. Am J Hum Genet. 2013. PMID: 24268661 Free PMC article.
139 results