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Page 1
Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness.
Owen D, Töpf A, Preethish-Kumar V, Lorenzoni PJ, Vroling B, Scola RH, Dias-Tosta E, Geraldo A, Polavarapu K, Nashi S, Cox D, Evangelista T, Dawson J, Thompson R, Senderek J, Laurie S, Beltran S, Gut M, Gut I, Nalini A, Lochmüller H. Owen D, et al. Among authors: gut m, gut i. Am J Med Genet A. 2018 Jul;176(7):1594-1601. doi: 10.1002/ajmg.a.38707. Epub 2018 Apr 28. Am J Med Genet A. 2018. PMID: 29704306
Somatic Embryonic FGFR2 Mutations in Keratinocytic Epidermal Nevi.
Toll A, Fernández LC, Pons T, Groesser L, Sagrera A, Carrillo-de Santa Pau E, Vicente A, Baselga E, Vázquez M, Beltrán S, Pisano DG, Rueda D, Gut M, Pujol RM, Hafner C, Gut I, Valencia A, Real FX. Toll A, et al. Among authors: gut m, gut i. J Invest Dermatol. 2016 Aug;136(8):1718-1721. doi: 10.1016/j.jid.2016.03.040. Epub 2016 Apr 19. J Invest Dermatol. 2016. PMID: 27103312 Free article. No abstract available.
MetaTrans: an open-source pipeline for metatranscriptomics.
Martinez X, Pozuelo M, Pascal V, Campos D, Gut I, Gut M, Azpiroz F, Guarner F, Manichanh C. Martinez X, et al. Among authors: gut m, gut i. Sci Rep. 2016 May 23;6:26447. doi: 10.1038/srep26447. Sci Rep. 2016. PMID: 27211518 Free PMC article.
PRKG1 and genetic diagnosis of early-onset thoracic aortic disease.
Gago-Díaz M, Blanco-Verea A, Teixidó G, Huguet F, Gut M, Laurie S, Gut I, Carracedo Á, Evangelista A, Brion M. Gago-Díaz M, et al. Among authors: gut m, gut i. Eur J Clin Invest. 2016 Sep;46(9):787-94. doi: 10.1111/eci.12662. Epub 2016 Aug 18. Eur J Clin Invest. 2016. PMID: 27442293
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.
Feliubadaló L, Tonda R, Gausachs M, Trotta JR, Castellanos E, López-Doriga A, Teulé À, Tornero E, Del Valle J, Gel B, Gut M, Pineda M, González S, Menéndez M, Navarro M, Capellá G, Gut I, Serra E, Brunet J, Beltran S, Lázaro C. Feliubadaló L, et al. Among authors: gut m, gut i. Sci Rep. 2017 Jan 4;7:37984. doi: 10.1038/srep37984. Sci Rep. 2017. PMID: 28050010 Free PMC article.
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.
Xue S, Maluenda J, Marguet F, Shboul M, Quevarec L, Bonnard C, Ng AY, Tohari S, Tan TT, Kong MK, Monaghan KG, Cho MT, Siskind CE, Sampson JB, Rocha CT, Alkazaleh F, Gonzales M, Rigonnot L, Whalen S, Gut M, Gut I, Bucourt M, Venkatesh B, Laquerrière A, Reversade B, Melki J. Xue S, et al. Among authors: gut m, gut i. Am J Hum Genet. 2017 Apr 6;100(4):659-665. doi: 10.1016/j.ajhg.2017.02.006. Epub 2017 Mar 16. Am J Hum Genet. 2017. PMID: 28318499 Free PMC article.
362 results