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Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.
Rowlands C, Thomas HB, Lord J, Wai HA, Arno G, Beaman G, Sergouniotis P, Gomes-Silva B, Campbell C, Gossan N, Hardcastle C, Webb K, O'Callaghan C, Hirst RA, Ramsden S, Jones E, Clayton-Smith J, Webster AR; Genomics England Research Consortium; Douglas AGL, O'Keefe RT, Newman WG, Baralle D, Black GCM, Ellingford JM. Rowlands C, et al. Among authors: baralle d. Sci Rep. 2021 Oct 18;11(1):20607. doi: 10.1038/s41598-021-99747-2. Sci Rep. 2021. PMID: 34663891 Free PMC article.
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).
Yardley J, Leroy BP, Hart-Holden N, Lafaut BA, Loeys B, Messiaen LM, Perveen R, Reddy MA, Bhattacharya SS, Traboulsi E, Baralle D, De Laey JJ, Puech B, Kestelyn P, Moore AT, Manson FD, Black GC. Yardley J, et al. Among authors: baralle d. Invest Ophthalmol Vis Sci. 2004 Oct;45(10):3683-9. doi: 10.1167/iovs.04-0550. Invest Ophthalmol Vis Sci. 2004. PMID: 15452077
Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).
Norman CS, O'Gorman L, Gibson J, Pengelly RJ, Baralle D, Ratnayaka JA, Griffiths H, Rose-Zerilli M, Ranger M, Bunyan D, Lee H, Page R, Newall T, Shawkat F, Mattocks C, Ward D, Ennis S, Self JE. Norman CS, et al. Among authors: baralle d. Sci Rep. 2017 Jun 30;7(1):4415. doi: 10.1038/s41598-017-04401-5. Sci Rep. 2017. PMID: 28667292 Free PMC article.
A study of splicing mutations in disorders of sex development.
de Calais FL, Smith LD, Raponi M, Maciel-Guerra AT, Guerra-Junior G, de Mello MP, Baralle D. de Calais FL, et al. Among authors: baralle d. Sci Rep. 2017 Nov 24;7(1):16202. doi: 10.1038/s41598-017-16296-3. Sci Rep. 2017. PMID: 29176693 Free PMC article.
RNA splicing analysis in genomic medicine.
Wai H, Douglas AGL, Baralle D. Wai H, et al. Among authors: baralle d. Int J Biochem Cell Biol. 2019 Mar;108:61-71. doi: 10.1016/j.biocel.2018.12.009. Epub 2018 Dec 27. Int J Biochem Cell Biol. 2019. PMID: 30594648 Review.
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.
Exome sequencing in patients with antiepileptic drug exposure and complex phenotypes.
Jackson A, Ward H, Bromley RL, Deshpande C, Vasudevan P, Scurr I, Dean J, Shannon N, Berg J, Holder S, Baralle D, Clayton-Smith J; DDD Study. Jackson A, et al. Among authors: baralle d. Arch Dis Child. 2020 Apr;105(4):384-389. doi: 10.1136/archdischild-2018-316547. Epub 2019 Sep 3. Arch Dis Child. 2020. PMID: 31481360
A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping.
O'Gorman L, Norman CS, Michaels L, Newall T, Crosby AH, Mattocks C, Cree AJ, Lotery AJ, Baple EL, Ratnayaka JA, Baralle D, Lee H, Osborne D, Shawkat F, Gibson J, Ennis S, Self JE. O'Gorman L, et al. Among authors: baralle d. Sci Rep. 2019 Sep 13;9(1):13229. doi: 10.1038/s41598-019-49368-7. Sci Rep. 2019. PMID: 31519934 Free PMC article.
Splicing in the pathogenesis, diagnosis and treatment of ciliopathies.
Wheway G, Lord J, Baralle D. Wheway G, et al. Among authors: baralle d. Biochim Biophys Acta Gene Regul Mech. 2019 Nov-Dec;1862(11-12):194433. doi: 10.1016/j.bbagrm.2019.194433. Epub 2019 Nov 4. Biochim Biophys Acta Gene Regul Mech. 2019. PMID: 31698098 Review.
175 results