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Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children.
Mestek-Boukhibar L, Clement E, Jones WD, Drury S, Ocaka L, Gagunashvili A, Le Quesne Stabej P, Bacchelli C, Jani N, Rahman S, Jenkins L, Hurst JA, Bitner-Glindzicz M, Peters M, Beales PL, Williams HJ. Mestek-Boukhibar L, et al. Among authors: bacchelli c. J Med Genet. 2018 Nov;55(11):721-728. doi: 10.1136/jmedgenet-2018-105396. Epub 2018 Jul 26. J Med Genet. 2018. PMID: 30049826 Free PMC article.
ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies.
Webb EA, AlMutair A, Kelberman D, Bacchelli C, Chanudet E, Lescai F, Andoniadou CL, Banyan A, Alsawaid A, Alrifai MT, Alahmesh MA, Balwi M, Mousavy-Gharavy SN, Lukovic B, Burke D, McCabe MJ, Kasia T, Kleta R, Stupka E, Beales PL, Thompson DA, Chong WK, Alkuraya FS, Martinez-Barbera JP, Sowden JC, Dattani MT. Webb EA, et al. Among authors: bacchelli c. Brain. 2013 Oct;136(Pt 10):3096-105. doi: 10.1093/brain/awt218. Epub 2013 Sep 10. Brain. 2013. PMID: 24022475 Free PMC article.
Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.
Onoufriadis A, Shoemark A, Munye MM, James CT, Schmidts M, Patel M, Rosser EM, Bacchelli C, Beales PL, Scambler PJ, Hart SL, Danke-Roelse JE, Sloper JJ, Hull S, Hogg C, Emes RD, Pals G, Moore AT, Chung EM; UK10K; Mitchison HM. Onoufriadis A, et al. Among authors: bacchelli c. J Med Genet. 2014 Jan;51(1):61-7. doi: 10.1136/jmedgenet-2013-101938. Epub 2013 Nov 7. J Med Genet. 2014. PMID: 24203976 Free PMC article.
Mutation of SALL2 causes recessive ocular coloboma in humans and mice.
Kelberman D, Islam L, Lakowski J, Bacchelli C, Chanudet E, Lescai F, Patel A, Stupka E, Buck A, Wolf S, Beales PL, Jacques TS, Bitner-Glindzicz M, Liasis A, Lehmann OJ, Kohlhase J, Nischal KK, Sowden JC. Kelberman D, et al. Among authors: bacchelli c. Hum Mol Genet. 2014 May 15;23(10):2511-26. doi: 10.1093/hmg/ddt643. Epub 2014 Jan 9. Hum Mol Genet. 2014. PMID: 24412933 Free PMC article.
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.
Thomas AC, Williams H, Setó-Salvia N, Bacchelli C, Jenkins D, O'Sullivan M, Mengrelis K, Ishida M, Ocaka L, Chanudet E, James C, Lescai F, Anderson G, Morrogh D, Ryten M, Duncan AJ, Pai YJ, Saraiva JM, Ramos F, Farren B, Saunders D, Vernay B, Gissen P, Straatmaan-Iwanowska A, Baas F, Wood NW, Hersheson J, Houlden H, Hurst J, Scott R, Bitner-Glindzicz M, Moore GE, Sousa SB, Stanier P. Thomas AC, et al. Among authors: bacchelli c. Am J Hum Genet. 2014 Nov 6;95(5):611-21. doi: 10.1016/j.ajhg.2014.10.007. Epub 2014 Nov 6. Am J Hum Genet. 2014. PMID: 25439728 Free PMC article.
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.
Waters AM, Asfahani R, Carroll P, Bicknell L, Lescai F, Bright A, Chanudet E, Brooks A, Christou-Savina S, Osman G, Walsh P, Bacchelli C, Chapgier A, Vernay B, Bader DM, Deshpande C, O' Sullivan M, Ocaka L, Stanescu H, Stewart HS, Hildebrandt F, Otto E, Johnson CA, Szymanska K, Katsanis N, Davis E, Kleta R, Hubank M, Doxsey S, Jackson A, Stupka E, Winey M, Beales PL. Waters AM, et al. Among authors: bacchelli c. J Med Genet. 2015 Mar;52(3):147-56. doi: 10.1136/jmedgenet-2014-102691. Epub 2015 Jan 6. J Med Genet. 2015. PMID: 25564561 Free PMC article.
STAG3 truncating variant as the cause of primary ovarian insufficiency.
Le Quesne Stabej P, Williams HJ, James C, Tekman M, Stanescu HC, Kleta R, Ocaka L, Lescai F, Storr HL, Bitner-Glindzicz M, Bacchelli C, Conway GS; GOSgene. Le Quesne Stabej P, et al. Among authors: bacchelli c. Eur J Hum Genet. 2016 Jan;24(1):135-8. doi: 10.1038/ejhg.2015.107. Epub 2015 Jun 10. Eur J Hum Genet. 2016. PMID: 26059840 Free PMC article.
64 results