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Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.
Cipriani V, Vestito L, Magavern EF, Jacobsen JO, Arno G, Behr ER, Benson KA, Bertoli M, Bockenhauer D, Bowl MR, Burley K, Chan LF, Chinnery P, Conlon P, Costa M, Davidson AE, Dawson SJ, Elhassan E, Flanagan SE, Futema M, Gale DP, García-Ruiz S, Corcia CG, Griffin HR, Hambleton S, Hicks AR, Houlden H, Houlston RS, Howles SA, Kleta R, Lekkerkerker I, Lin S, Liskova P, Mitchison H, Morsy H, Mumford AD, Newman WG, Neatu R, O'Toole EA, Ong AC, Pagnamenta AT, Rahman S, Rajan N, Robinson PN, Ryten M, Sadeghi-Alavijeh O, Sayer JA, Shovlin CL, Taylor JC, Teltsh O, Tomlinson I, Tucci A, Turnbull C, van Eerde AM, Ware JS, Watts LM, Webster AR, Westbury SK, Zheng SL, Caulfield M, Smedley D. Cipriani V, et al. Among authors: costa m. medRxiv [Preprint]. 2023 Dec 21:2023.12.20.23300294. doi: 10.1101/2023.12.20.23300294. medRxiv. 2023. PMID: 38196618 Free PMC article. Preprint.
Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant.
Braddock FL, Gardner JC, Bhattacharyya N, Sanchez-Pintado B, Costa M, Zarouchlioti C, Szabo A, Lišková P, Cheetham ME, Young RD, Thaung C, Davidson AE, Tuft SJ, Hardcastle AJ. Braddock FL, et al. Among authors: costa m. Eur J Hum Genet. 2024 Dec;32(12):1583-1589. doi: 10.1038/s41431-024-01687-8. Epub 2024 Aug 21. Eur J Hum Genet. 2024. PMID: 39169229 Free PMC article.
Tissue-specific TCF4 triplet repeat instability revealed by optical genome mapping.
Zarouchlioti C, Efthymiou S, Facchini S, Dominik N, Bhattacharyya N, Liu S, Costa MA, Szabo A, Sadan AN, Jun AS, Bugiardini E, Houlden H, Cortese A, Skalicka P, Dudakova L, Muthusamy K, Cheetham ME, Hardcastle AJ, Liskova P, Tuft SJ, Davidson AE. Zarouchlioti C, et al. EBioMedicine. 2024 Oct;108:105328. doi: 10.1016/j.ebiom.2024.105328. Epub 2024 Sep 14. EBioMedicine. 2024. PMID: 39278108 Free PMC article.
Applicability of the Scottish screen-detected polyp cancer study (SSPoCS) algorithm in a multicentric cohort in the management of malignant colorectal polyps.
Gonçalves AR, Azevedo Silva M, Sequeira C, Mascarenhas A, Costa M, Pinto Pais T, Barreiro P, Almeida N, Rama N, Fernandes A, Eliseu L, Dinis-Ribeiro M, Vasconcelos H. Gonçalves AR, et al. Among authors: costa m. Scand J Gastroenterol. 2024 Dec 23:1-8. doi: 10.1080/00365521.2024.2445699. Online ahead of print. Scand J Gastroenterol. 2024. PMID: 39711172
Long-term impact of congenital Zika virus infection on the rat hippocampus: Neuroinflammatory, glial alterations and sex-specific effects.
Dos Santos AS, da Costa MG, de Almeida W, de Aguiar GB, Lothhammer Bohn AL, Rodrigues Martini AP, Soares Carvalho AV, Smaniotto TÂ, Rieder AS, Muterle Varelad AP, Teixeirad TF, Roehe PM, de Souza Wyse AT, Dalmaz C, Netto CA, Pereira LO. Dos Santos AS, et al. Among authors: da costa mg. Brain Res. 2024 Dec 20:149421. doi: 10.1016/j.brainres.2024.149421. Online ahead of print. Brain Res. 2024. PMID: 39710052
8,856 results