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The translation of psychiatric genetic findings to the clinic.
Kendall KM, Duffin D, Doherty J, Irving R, Procter A, Walters JTR. Kendall KM, et al. Among authors: procter a. Schizophr Res. 2024 May;267:470-472. doi: 10.1016/j.schres.2023.10.024. Epub 2023 Oct 31. Schizophr Res. 2024. PMID: 37919212 Free article. Review.
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
Wright CF, Campbell P, Eberhardt RY, Aitken S, Perrett D, Brent S, Danecek P, Gardner EJ, Chundru VK, Lindsay SJ, Andrews K, Hampstead J, Kaplanis J, Samocha KE, Middleton A, Foreman J, Hobson RJ, Parker MJ, Martin HC, FitzPatrick DR, Hurles ME, Firth HV; DDD Study. Wright CF, et al. N Engl J Med. 2023 Apr 27;388(17):1559-1571. doi: 10.1056/NEJMoa2209046. Epub 2023 Apr 12. N Engl J Med. 2023. PMID: 37043637 Free PMC article.
Representation of genomic intratumor heterogeneity in multi-region non-small cell lung cancer patient-derived xenograft models.
Hynds RE, Huebner A, Pearce DR, Hill MS, Akarca AU, Moore DA, Ward S, Gowers KHC, Karasaki T, Al Bakir M, Wilson GA, Pich O, Martínez-Ruiz C, Hossain ASMM, Pearce SP, Sivakumar M, Ben Aissa A, Grönroos E, Chandrasekharan D, Kolluri KK, Towns R, Wang K, Cook DE, Bosshard-Carter L, Naceur-Lombardelli C, Rowan AJ, Veeriah S, Litchfield K, Crosbie PAJ, Dive C, Quezada SA, Janes SM, Jamal-Hanjani M, Marafioti T; TRACERx consortium; McGranahan N, Swanton C. Hynds RE, et al. Nat Commun. 2024 May 31;15(1):4653. doi: 10.1038/s41467-024-47547-3. Nat Commun. 2024. PMID: 38821942 Free PMC article.
The artificial intelligence-based model ANORAK improves histopathological grading of lung adenocarcinoma.
Pan X, AbdulJabbar K, Coelho-Lima J, Grapa AI, Zhang H, Cheung AHK, Baena J, Karasaki T, Wilson CR, Sereno M, Veeriah S, Aitken SJ, Hackshaw A, Nicholson AG, Jamal-Hanjani M; TRACERx Consortium; Swanton C, Yuan Y, Le Quesne J, Moore DA. Pan X, et al. Nat Cancer. 2024 Feb;5(2):347-363. doi: 10.1038/s43018-023-00694-w. Epub 2024 Jan 10. Nat Cancer. 2024. PMID: 38200244 Free PMC article.
Mortality surrogates in combined pulmonary fibrosis and emphysema.
Zhao A, Gudmundsson E, Mogulkoc N, van Moorsel C, Corte TJ, Vasudev P, Romei C, Chapman R, Wallis TJM, Denneny E, Goos T, Savas R, Ahmed A, Brereton CJ, van Es HW, Jo H, De Liperi A, Duncan M, Pontoppidan K, De Sadeleer LJ, van Beek F, Barnett J, Cross G, Procter A, Veltkamp M, Hopkins P, Moodley Y, Taliani A, Taylor M, Verleden S, Tavanti L, Vermant M, Nair A, Stewart I, Janes SM, Young AL, Barber D, Alexander DC, Porter JC, Wells AU, Jones MG, Wuyts WA, Jacob J. Zhao A, et al. Among authors: procter a. Eur Respir J. 2024 Apr 4;63(4):2300127. doi: 10.1183/13993003.00127-2023. Print 2024 Apr. Eur Respir J. 2024. PMID: 37973176
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
154 results