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Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.
Sharma VP, Fenwick AL, Brockop MS, McGowan SJ, Goos JA, Hoogeboom AJ, Brady AF, Jeelani NO, Lynch SA, Mulliken JB, Murray DJ, Phipps JM, Sweeney E, Tomkins SE, Wilson LC, Bennett S, Cornall RJ, Broxholme J, Kanapin A; 500 Whole-Genome Sequences (WGS500) Consortium; Johnson D, Wall SA, van der Spek PJ, Mathijssen IM, Maxson RE, Twigg SR, Wilkie AO. Sharma VP, et al. Nat Genet. 2013 Mar;45(3):304-7. doi: 10.1038/ng.2531. Epub 2013 Jan 27. Nat Genet. 2013. PMID: 23354436 Free PMC article.
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.
Cossins J, Belaya K, Hicks D, Salih MA, Finlayson S, Carboni N, Liu WW, Maxwell S, Zoltowska K, Farsani GT, Laval S, Seidhamed MZ; WGS500 Consortium; Donnelly P, Bentley D, McGowan SJ, Müller J, Palace J, Lochmüller H, Beeson D. Cossins J, et al. Brain. 2013 Mar;136(Pt 3):944-56. doi: 10.1093/brain/awt010. Epub 2013 Feb 11. Brain. 2013. PMID: 23404334 Free PMC article.
Whole-exome sequencing studies of nonfunctioning pituitary adenomas.
Newey PJ, Nesbit MA, Rimmer AJ, Head RA, Gorvin CM, Attar M, Gregory L, Wass JA, Buck D, Karavitaki N, Grossman AB, McVean G, Ansorge O, Thakker RV. Newey PJ, et al. Among authors: attar m. J Clin Endocrinol Metab. 2013 Apr;98(4):E796-800. doi: 10.1210/jc.2012-4028. Epub 2013 Feb 28. J Clin Endocrinol Metab. 2013. PMID: 23450047 Free PMC article.
A modified RNA-Seq approach for whole genome sequencing of RNA viruses from faecal and blood samples.
Batty EM, Wong TH, Trebes A, Argoud K, Attar M, Buck D, Ip CL, Golubchik T, Cule M, Bowden R, Manganis C, Klenerman P, Barnes E, Walker AS, Wyllie DH, Wilson DJ, Dingle KE, Peto TE, Crook DW, Piazza P. Batty EM, et al. Among authors: attar m. PLoS One. 2013 Jun 10;8(6):e66129. doi: 10.1371/journal.pone.0066129. Print 2013. PLoS One. 2013. PMID: 23762474 Free PMC article.
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.
Taylor JC, Martin HC, Lise S, Broxholme J, Cazier JB, Rimmer A, Kanapin A, Lunter G, Fiddy S, Allan C, Aricescu AR, Attar M, Babbs C, Becq J, Beeson D, Bento C, Bignell P, Blair E, Buckle VJ, Bull K, Cais O, Cario H, Chapel H, Copley RR, Cornall R, Craft J, Dahan K, Davenport EE, Dendrou C, Devuyst O, Fenwick AL, Flint J, Fugger L, Gilbert RD, Goriely A, Green A, Greger IH, Grocock R, Gruszczyk AV, Hastings R, Hatton E, Higgs D, Hill A, Holmes C, Howard M, Hughes L, Humburg P, Johnson D, Karpe F, Kingsbury Z, Kini U, Knight JC, Krohn J, Lamble S, Langman C, Lonie L, Luck J, McCarthy D, McGowan SJ, McMullin MF, Miller KA, Murray L, Németh AH, Nesbit MA, Nutt D, Ormondroyd E, Oturai AB, Pagnamenta A, Patel SY, Percy M, Petousi N, Piazza P, Piret SE, Polanco-Echeverry G, Popitsch N, Powrie F, Pugh C, Quek L, Robbins PA, Robson K, Russo A, Sahgal N, van Schouwenburg PA, Schuh A, Silverman E, Simmons A, Sørensen PS, Sweeney E, Taylor J, Thakker RV, Tomlinson I, Trebes A, Twigg SR, Uhlig HH, Vyas P, Vyse T, Wall SA, Watkins H, Whyte MP, Witty L, Wright B, Yau C, Buck D, Humphray S, Ratcliffe PJ, Bell JI, Wilkie AO, Bentley D, Donnelly P, McVean G. Taylor JC, et al. Among authors: attar m. Nat Genet. 2015 Jul;47(7):717-726. doi: 10.1038/ng.3304. Epub 2015 May 18. Nat Genet. 2015. PMID: 25985138 Free PMC article.
Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.
van Schouwenburg PA, Davenport EE, Kienzler AK, Marwah I, Wright B, Lucas M, Malinauskas T, Martin HC; WGS500 Consortium; Lockstone HE, Cazier JB, Chapel HM, Knight JC, Patel SY. van Schouwenburg PA, et al. Clin Immunol. 2015 Oct;160(2):301-14. doi: 10.1016/j.clim.2015.05.020. Epub 2015 Jun 26. Clin Immunol. 2015. PMID: 26122175 Free PMC article.
Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.
Twigg SR, Forecki J, Goos JA, Richardson IC, Hoogeboom AJ, van den Ouweland AM, Swagemakers SM, Lequin MH, Van Antwerp D, McGowan SJ, Westbury I, Miller KA, Wall SA; WGS500 Consortium; van der Spek PJ, Mathijssen IM, Pauws E, Merzdorf CS, Wilkie AO. Twigg SR, et al. Am J Hum Genet. 2015 Sep 3;97(3):378-88. doi: 10.1016/j.ajhg.2015.07.007. Am J Hum Genet. 2015. PMID: 26340333 Free PMC article.
A practical solution for preserving single cells for RNA sequencing.
Attar M, Sharma E, Li S, Bryer C, Cubitt L, Broxholme J, Lockstone H, Kinchen J, Simmons A, Piazza P, Buck D, Livak KJ, Bowden R. Attar M, et al. Sci Rep. 2018 Feb 1;8(1):2151. doi: 10.1038/s41598-018-20372-7. Sci Rep. 2018. PMID: 29391536 Free PMC article.
295 results