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1990 1
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2020 2
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Page 1
CUGC for Duchenne muscular dystrophy (DMD).
Coote DJ, Davis MR, Cabrera M, Needham M, Laing NG, Nowak KJ. Coote DJ, et al. Eur J Hum Genet. 2018 May;26(5):749-757. doi: 10.1038/s41431-017-0013-2. Epub 2018 Jan 12. Eur J Hum Genet. 2018. PMID: 29330543 Free PMC article. No abstract available.
Clinical Utility Gene Card for: Becker muscular dystrophy.
Coote D, Davis MR, Cabrera M, Needham M, Laing NG, Nowak KJ. Coote D, et al. Eur J Hum Genet. 2018 Jul;26(7):1065-1071. doi: 10.1038/s41431-017-0064-4. Epub 2018 Feb 21. Eur J Hum Genet. 2018. PMID: 29467387 Free PMC article. No abstract available.
A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy.
Cabrera-Serrano M, Coote DJ, Azmanov D, Goullee H, Andersen E, McLean C, Davis M, Ishimura R, Stark Z, Vallat JM, Komatsu M, Kornberg A, Ryan M, Laing NG, Ravenscroft G. Cabrera-Serrano M, et al. Among authors: coote dj. J Med Genet. 2020 Dec;57(12):835-842. doi: 10.1136/jmedgenet-2019-106496. Epub 2020 Mar 16. J Med Genet. 2020. PMID: 32179706
Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy.
Clayton JS, McNamara EL, Goullee H, Conijn S, Muthsam K, Musk GC, Coote D, Kijas J, Testa AC, Taylor RL, O'Hara AJ, Groth D, Ottenheijm C, Ravenscroft G, Laing NG, Nowak KJ. Clayton JS, et al. Among authors: coote d. Acta Neuropathol Commun. 2020 Aug 20;8(1):142. doi: 10.1186/s40478-020-01017-1. Acta Neuropathol Commun. 2020. PMID: 32819427 Free PMC article.
Whole-genome sequencing of 234 bulls facilitates mapping of monogenic and complex traits in cattle.
Daetwyler HD, Capitan A, Pausch H, Stothard P, van Binsbergen R, Brøndum RF, Liao X, Djari A, Rodriguez SC, Grohs C, Esquerré D, Bouchez O, Rossignol MN, Klopp C, Rocha D, Fritz S, Eggen A, Bowman PJ, Coote D, Chamberlain AJ, Anderson C, VanTassell CP, Hulsegge I, Goddard ME, Guldbrandtsen B, Lund MS, Veerkamp RF, Boichard DA, Fries R, Hayes BJ. Daetwyler HD, et al. Among authors: coote d. Nat Genet. 2014 Aug;46(8):858-65. doi: 10.1038/ng.3034. Epub 2014 Jul 13. Nat Genet. 2014. PMID: 25017103