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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1949 1
1976 1
1980 1
1982 1
1987 1
1997 1
1998 1
1999 1
2000 3
2001 1
2002 1
2003 3
2004 2
2005 1
2007 2
2008 2
2010 3
2011 6
2012 5
2013 1
2014 6
2015 4
2016 10
2017 3
2018 10
2019 10
2020 6
2021 17
2022 35
2023 26
2024 6

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150 results

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Page 1
The genomic landscape of familial glioma.
Choi DJ, Armstrong G, Lozzi B, Vijayaraghavan P, Plon SE, Wong TC, Boerwinkle E, Muzny DM, Chen HC, Gibbs RA, Ostrom QT, Melin B, Deneen B, Bondy ML; Gliogene Consortium; Genomics England Research Consortium; Bainbridge MN, Amos CI, Barnholtz-Sloan JS, Bernstein JL, Claus EB, Houlston RS, Il'yasova D, Jenkins RB, Johansen C, Lachance D, Lai R, Melin BS, Merrell RT, Olson SH, Sadetzki S, Schildkraut J, Shete S, Ambrose JC, Arumugam P, Bevers R, Bleda M, Boardman-Pretty F, Boustred CR, Brittain H, Brown MA, Caulfield MJ, Chan GC, Giess A, Griffin JN, Hamblin A, Henderson S, Hubbard TJP, Jackson R, Jones LJ, Kasperaviciute D, Kayikci M, Kousathanas A, Lahnstein L, Lakey A, Leigh SEA, Leong IUS, Lopez FJ, Maleady-Crowe F, McEntagart M, Minneci F, Mitchell J, Moutsianas L, Mueller M, Murugaesu N, Need AC, O'Donovan P, Odhams CA, Patch C, Perez-Gil D, Pereira MB, Pullinger J, Rahim T, Rendon A, Rogers T, Savage K, Sawant K, Scott RH, Siddiq A, Sieghart A, Smith SC, Sosinsky A, Stuckey A, Tanguy M, Taylor Tavares AL, Thomas ERA, Thompson SR, Tucci A, Welland MJ, Williams E, Witkowska K, Wood SM, Zarowiecki M. Choi DJ, et al. Among authors: pereira mb. Sci Adv. 2023 Apr 28;9(17):eade2675. doi: 10.1126/sciadv.ade2675. Epub 2023 Apr 28. Sci Adv. 2023. PMID: 37115922 Free PMC article.
Substitution mutational signatures in whole-genome-sequenced cancers in the UK population.
Degasperi A, Zou X, Amarante TD, Martinez-Martinez A, Koh GCC, Dias JML, Heskin L, Chmelova L, Rinaldi G, Wang VYW, Nanda AS, Bernstein A, Momen SE, Young J, Perez-Gil D, Memari Y, Badja C, Shooter S, Czarnecki J, Brown MA, Davies HR; Genomics England Research Consortium; Nik-Zainal S. Degasperi A, et al. Science. 2022 Apr 22;376(6591):science.abl9283. doi: 10.1126/science.abl9283. eCollection 2022 Apr 22. Science. 2022. PMID: 35949260 Free PMC article.
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy.
Lesurf R, Said A, Akinrinade O, Breckpot J, Delfosse K, Liu T, Yao R, Persad G, McKenna F, Noche RR, Oliveros W, Mattioli K, Shah S, Miron A, Yang Q, Meng G, Yue MCS, Sung WWL, Thiruvahindrapuram B, Lougheed J, Oechslin E, Mondal T, Bergin L, Smythe J, Jayappa S, Rao VJ, Shenthar J, Dhandapany PS, Semsarian C, Weintraub RG, Bagnall RD, Ingles J; Genomics England Research Consortium; Melé M, Maass PG, Ellis J, Scherer SW, Mital S. Lesurf R, et al. NPJ Genom Med. 2022 Mar 14;7(1):18. doi: 10.1038/s41525-022-00288-y. NPJ Genom Med. 2022. PMID: 35288587 Free PMC article.
Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis.
Shoemark A, Griffin H, Wheway G, Hogg C, Lucas JS; Genomics England Research Consortium; Camps C, Taylor J, Carroll M, Loebinger MR, Chalmers JD, Morris-Rosendahl D, Mitchison HM, De Soyza A; Genomics England Research Consortium:; Brown D, Ambrose JC, Arumugam P, Bevers R, Bleda M, Boardman-Pretty F, Boustred CR, Brittain H, Caulfield MJ, Chan GC, Fowler T, Giess A, Hamblin A, Henderson S, Hubbard TJP, Jackson R, Jones LJ, Kasperaviciute D, Kayikci M, Kousathanas A, Lahnstein L, Leigh SEA, Leong IUS, Lopez FJ, Maleady-Crowe F, McEntagart M, Minneci F, Moutsianas L, Mueller M, Murugaesu N, Need AC, O'Donovan P, Odhams CA, Patch C, Perez-Gil D, Pereira MB, Pullinger J, Rahim T, Rendon A, Rogers T, Savage K, Sawant K, Scott RH, Siddiq A, Sieghart A, Smith SC, Sosinsky A, Stuckey A, Tanguy M, Taylor Tavares AL, Thomas ERA, Thompson SR, Tucci A, Welland MJ, Williams E, Witkowska K, Wood SM. Shoemark A, et al. Among authors: pereira mb. Eur Respir J. 2022 Nov 17;60(5):2200176. doi: 10.1183/13993003.00176-2022. Print 2022 Nov. Eur Respir J. 2022. PMID: 35728977
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
Vetro A, Pelorosso C, Balestrini S, Masi A, Hambleton S, Argilli E, Conti V, Giubbolini S, Barrick R, Bergant G, Writzl K, Bijlsma EK, Brunet T, Cacheiro P, Mei D, Devlin A, Hoffer MJV, Machol K, Mannaioni G, Sakamoto M, Menezes MP, Courtin T, Sherr E, Parra R, Richardson R, Roscioli T, Scala M, von Stülpnagel C, Smedley D; TMEM63B collaborators; Genomics England Research Consortium; Torella A, Tohyama J, Koichihara R, Hamada K, Ogata K, Suzuki T, Sugie A, van der Smagt JJ, van Gassen K, Valence S, Vittery E, Malone S, Kato M, Matsumoto N, Ratto GM, Guerrini R. Vetro A, et al. Am J Hum Genet. 2023 Aug 3;110(8):1356-1376. doi: 10.1016/j.ajhg.2023.06.008. Epub 2023 Jul 7. Am J Hum Genet. 2023. PMID: 37421948 Free PMC article.
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.
Martins Custodio H, Clayton LM, Bellampalli R, Pagni S, Silvennoinen K, Caswell R; Genomics England Research Consortium; Brunklaus A, Guerrini R, Koeleman BPC, Lemke JR, Møller RS, Scheffer IE, Weckhuysen S, Zara F, Zuberi S, Kuchenbaecker K, Balestrini S, Mills JD, Sisodiya SM. Martins Custodio H, et al. Brain. 2023 Sep 1;146(9):3885-3897. doi: 10.1093/brain/awad111. Brain. 2023. PMID: 37006128 Free PMC article.
Moderate-to-high intensity inspiratory muscle training improves the effects of combined training on exercise capacity in patients after coronary artery bypass graft surgery: A randomized clinical trial.
Dos Santos TD, Pereira SN, Portela LOC, Cardoso DM, Lago PD, Dos Santos Guarda N, Moresco RN, Pereira MB, de Albuquerque IM. Dos Santos TD, et al. Among authors: pereira mb. Int J Cardiol. 2019 Mar 15;279:40-46. doi: 10.1016/j.ijcard.2018.12.013. Epub 2018 Dec 10. Int J Cardiol. 2019. PMID: 30581100 Clinical Trial.
Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.
Zanovello M, Ibáñez K, Brown AL, Sivakumar P, Bombaci A, Santos L, van Vugt JJFA, Narzisi G, Karra R, Scholz SW, Ding J, Gibbs JR, Chiò A, Dalgard C, Weisburd B; American Genome Center (TAGC) consortium, Genomics England Research Consortium, Project MinE ALS Sequencing Consortium, The NYGC ALS Consortium; Hanna MG, Greensmith L, Phatnani H, Veldink JH, Traynor BJ, Polke J, Houlden H, Fratta P, Tucci A. Zanovello M, et al. Brain. 2023 Jul 3;146(7):2723-2729. doi: 10.1093/brain/awad050. Brain. 2023. PMID: 36797998 Free PMC article.
Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features.
Robbe P, Ridout KE, Vavoulis DV, Dréau H, Kinnersley B, Denny N, Chubb D, Appleby N, Cutts A, Cornish AJ, Lopez-Pascua L, Clifford R, Burns A, Stamatopoulos B, Cabes M, Alsolami R, Antoniou P, Oates M, Cavalieri D; Genomics England Research Consortium; CLL pilot consortium; Gibson J, Prabhu AV, Schwessinger R, Jennings D, James T, Maheswari U, Duran-Ferrer M, Carninci P, Knight SJL, Månsson R, Hughes J, Davies J, Ross M, Bentley D, Strefford JC, Devereux S, Pettitt AR, Hillmen P, Caulfield MJ, Houlston RS, Martín-Subero JI, Schuh A. Robbe P, et al. Nat Genet. 2022 Nov;54(11):1675-1689. doi: 10.1038/s41588-022-01211-y. Epub 2022 Nov 4. Nat Genet. 2022. PMID: 36333502 Free PMC article.
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.
Jackson A, Lin SJ, Jones EA, Chandler KE, Orr D, Moss C, Haider Z, Ryan G, Holden S, Harrison M, Burrows N, Jones WD, Loveless M, Petree C, Stewart H, Low K, Donnelly D, Lovell S, Drosou K; Genomics England Research Consortium; Solve-RD consortium; Varshney GK, Banka S. Jackson A, et al. HGG Adv. 2023 Mar 3;4(2):100186. doi: 10.1016/j.xhgg.2023.100186. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 37009414 Free PMC article.
150 results