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Page 1
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.
French CE, Delon I, Dolling H, Sanchis-Juan A, Shamardina O, Mégy K, Abbs S, Austin T, Bowdin S, Branco RG, Firth H; NIHR BioResource—Rare Disease; Next Generation Children Project; Rowitch DH, Raymond FL. French CE, et al. Among authors: delon i. Intensive Care Med. 2019 May;45(5):627-636. doi: 10.1007/s00134-019-05552-x. Epub 2019 Mar 7. Intensive Care Med. 2019. PMID: 30847515 Free PMC article.
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.
French CE, Dolling H, Mégy K, Sanchis-Juan A, Kumar A, Delon I, Wakeling M, Mallin L, Agrawal S, Austin T, Walston F, Park SM, Parker A, Piyasena C, Bradbury K; Next Generation Children’s Project Consortium; Ellard S, Rowitch DH, Raymond FL. French CE, et al. Among authors: delon i. HGG Adv. 2022 Apr 25;3(3):100113. doi: 10.1016/j.xhgg.2022.100113. eCollection 2022 Jul 14. HGG Adv. 2022. PMID: 35586607 Free PMC article.
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.
Alston CL, Heidler J, Dibley MG, Kremer LS, Taylor LS, Fratter C, French CE, Glasgow RIC, Feichtinger RG, Delon I, Pagnamenta AT, Dolling H, Lemonde H, Aiton N, Bjørnstad A, Henneke L, Gärtner J, Thiele H, Tauchmannova K, Quaghebeur G, Houstek J, Sperl W, Raymond FL, Prokisch H, Mayr JA, McFarland R, Poulton J, Ryan MT, Wittig I, Henneke M, Taylor RW. Alston CL, et al. Among authors: delon i. Am J Hum Genet. 2018 Oct 4;103(4):592-601. doi: 10.1016/j.ajhg.2018.08.013. Epub 2018 Sep 20. Am J Hum Genet. 2018. PMID: 30245030 Free PMC article.
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing.
Sanchis-Juan A, Stephens J, French CE, Gleadall N, Mégy K, Penkett C, Shamardina O, Stirrups K, Delon I, Dewhurst E, Dolling H, Erwood M, Grozeva D, Stefanucci L, Arno G, Webster AR, Cole T, Austin T, Branco RG, Ouwehand WH, Raymond FL, Carss KJ. Sanchis-Juan A, et al. Among authors: delon i. Genome Med. 2018 Dec 7;10(1):95. doi: 10.1186/s13073-018-0606-6. Genome Med. 2018. PMID: 30526634 Free PMC article.
Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data.
Chen X, Sanchis-Juan A, French CE, Connell AJ, Delon I, Kingsbury Z, Chawla A, Halpern AL, Taft RJ; NIHR BioResource; Bentley DR, Butchbach MER, Raymond FL, Eberle MA. Chen X, et al. Among authors: delon i. Genet Med. 2020 May;22(5):945-953. doi: 10.1038/s41436-020-0754-0. Epub 2020 Feb 18. Genet Med. 2020. PMID: 32066871 Free PMC article.
Closing the tau loop: the missing tau mutation.
McCarthy A, Lonergan R, Olszewska DA, O'Dowd S, Cummins G, Magennis B, Fallon EM, Pender N, Huey ED, Cosentino S, O'Rourke K, Kelly BD, O'Connell M, Delon I, Farrell M, Spillantini MG, Rowland LP, Fahn S, Craig P, Hutton M, Lynch T. McCarthy A, et al. Among authors: delon i. Brain. 2015 Oct;138(Pt 10):3100-9. doi: 10.1093/brain/awv234. Epub 2015 Aug 21. Brain. 2015. PMID: 26297556 Free PMC article.
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