Author:
Trakadis Yannis J,Buote Caroline,Therriault Jean-François,Jacques Pierre-Étienne,Larochelle Hugo,Lévesque Sébastien
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference55 articles.
1. Ku CS, Naidoo N, Pawitan Y: Revisiting mendelian disorders through exome sequencing. Hum Genet. 2011, 129 (4): 351-370. 10.1007/s00439-011-0964-2.
2. Tsurusaki Y, Kobayashi Y, Hisano M, Ito S, Doi H, Nakashima M, Saitsu H, Matsumoto N, Miyake N: The diagnostic utility of exome sequencing in Joubert syndrome and related disorders. J Hum Genet. 2013, 58 (2): 113-115. 10.1038/jhg.2012.117.
3. Dixon-Salazar TJ, Silhavy JL, Udpa N, Schroth J, Bielas S, Schaffer AE, Olvera J, Bafna V, Zaki MS, Abdel-Salam GH, Mansour LA, Selim L, Abdel-Hadi S, Marzouki N, Ben-Omran T, Al-Saana NA, Sonmez FM, Celep F, Azam M, Hill KJ, Collazo A, Fenstermaker AG, Novarino G, Akizu N, Garimella KV, Sougnez C, Russ C, Gabriel SB, Gleeson JG: Exome sequencing can improve diagnosis and alter patient management. Sci Transl Med. 2012, 4 (138): 138ra-178ra.
4. Bettencourt C, López-Sendón J, García-Caldentey J, Rizzu P, Bakker I, Shomroni O, Quintáns B, Dávila J, Bevova M, Sobrido MJ, Heutink P, de Yébenes J: Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia. Clin Genet. 2013, Feb 25. doi: 10.1111/cge.12133. [Epub ahead of print]. PMID: 23438842
5. Topper S, Ober C, Das S: Exome sequencing and the genetics of intellectual disability. Clin Genet. 2011, 80 (2): 117-126. 10.1111/j.1399-0004.2011.01720.x.
Cited by
24 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献