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Page 1
Genetic basis of Y-linked hearing impairment.
Wang Q, Xue Y, Zhang Y, Long Q, Asan, Yang F, Turner DJ, Fitzgerald T, Ng BL, Zhao Y, Chen Y, Liu Q, Yang W, Han D, Quail MA, Swerdlow H, Burton J, Fahey C, Ning Z, Hurles ME, Carter NP, Yang H, Tyler-Smith C. Wang Q, et al. Among authors: quail ma. Am J Hum Genet. 2013 Feb 7;92(2):301-6. doi: 10.1016/j.ajhg.2012.12.015. Epub 2013 Jan 24. Am J Hum Genet. 2013. PMID: 23352258 Free PMC article.
Exploration of signals of positive selection derived from genotype-based human genome scans using re-sequencing data.
Hu M, Ayub Q, Guerra-Assunção JA, Long Q, Ning Z, Huang N, Romero IG, Mamanova L, Akan P, Liu X, Coffey AJ, Turner DJ, Swerdlow H, Burton J, Quail MA, Conrad DF, Enright AJ, Tyler-Smith C, Xue Y. Hu M, et al. Among authors: quail ma. Hum Genet. 2012 May;131(5):665-74. doi: 10.1007/s00439-011-1111-9. Epub 2011 Nov 5. Hum Genet. 2012. PMID: 22057783 Free PMC article.
Copy number variation arising from gene conversion on the human Y chromosome.
Shi W, Massaia A, Louzada S, Banerjee R, Hallast P, Chen Y, Bergström A, Gu Y, Leonard S, Quail MA, Ayub Q, Yang F, Tyler-Smith C, Xue Y. Shi W, et al. Among authors: quail ma. Hum Genet. 2018 Jan;137(1):73-83. doi: 10.1007/s00439-017-1857-9. Epub 2017 Dec 5. Hum Genet. 2018. PMID: 29209947 Free article.
Improved Protocols for Illumina Sequencing.
Bronner IF, Quail MA, Turner DJ, Swerdlow H. Bronner IF, et al. Among authors: quail ma. Curr Protoc Hum Genet. 2014 Jan 21;80:18.2.1-42. doi: 10.1002/0471142905.hg1802s80. Curr Protoc Hum Genet. 2014. PMID: 26270174
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource; Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Gorman KM, et al. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982612 Free PMC article.
Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing.
Campbell PJ, Stephens PJ, Pleasance ED, O'Meara S, Li H, Santarius T, Stebbings LA, Leroy C, Edkins S, Hardy C, Teague JW, Menzies A, Goodhead I, Turner DJ, Clee CM, Quail MA, Cox A, Brown C, Durbin R, Hurles ME, Edwards PA, Bignell GR, Stratton MR, Futreal PA. Campbell PJ, et al. Among authors: quail ma. Nat Genet. 2008 Jun;40(6):722-9. doi: 10.1038/ng.128. Epub 2008 Apr 27. Nat Genet. 2008. PMID: 18438408 Free PMC article.
Massively parallel sequencing reveals the complex structure of an irradiated human chromosome on a mouse background in the Tc1 model of Down syndrome.
Gribble SM, Wiseman FK, Clayton S, Prigmore E, Langley E, Yang F, Maguire S, Fu B, Rajan D, Sheppard O, Scott C, Hauser H, Stephens PJ, Stebbings LA, Ng BL, Fitzgerald T, Quail MA, Banerjee R, Rothkamm K, Tybulewicz VL, Fisher EM, Carter NP. Gribble SM, et al. Among authors: quail ma. PLoS One. 2013 Apr 15;8(4):e60482. doi: 10.1371/journal.pone.0060482. Print 2013. PLoS One. 2013. PMID: 23596509 Free PMC article.
272 results