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

Year Number of Results
1980 1
1982 1
1985 1
1986 4
1987 1
1988 3
1989 9
1990 4
1991 2
1992 2
1993 1
1994 4
1995 1
1996 1
1997 3
1998 1
1999 4
2000 4
2001 2
2002 4
2003 6
2004 8
2005 9
2006 9
2007 5
2008 12
2009 12
2010 11
2011 20
2012 7
2013 12
2014 15
2015 9
2016 15
2017 17
2018 18
2019 19
2020 14
2021 16
2022 10
2023 12
2024 13
2025 3

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282 results

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Page 1
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
100,000 Genomes Project Pilot Investigators; Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G, Tucci A, Vandrovcova J, Chan G, Williams HJ, Ratnaike T, Wei W, Stirrups K, Ibanez K, Moutsianas L, Wielscher M, Need A, Barnes MR, Vestito L, Buchanan J, Wordsworth S, Ashford S, Rehmström K, Li E, Fuller G, Twiss P, Spasic-Boskovic O, Halsall S, Floto RA, Poole K, Wagner A, Mehta SG, Gurnell M, Burrows N, James R, Penkett C, Dewhurst E, Gräf S, Mapeta R, Kasanicki M, Haworth A, Savage H, Babcock M, Reese MG, Bale M, Baple E, Boustred C, Brittain H, de Burca A, Bleda M, Devereau A, Halai D, Haraldsdottir E, Hyder Z, Kasperaviciute D, Patch C, Polychronopoulos D, Matchan A, Sultana R, Ryten M, Tavares ALT, Tregidgo C, Turnbull C, Welland M, Wood S, Snow C, Williams E, Leigh S, Foulger RE, Daugherty LC, Niblock O, Leong IUS, Wright CF, Davies J, Crichton C, Welch J, Woods K, Abulhoul L, Aurora P, Bockenhauer D, Broomfield A, Cleary MA, Lam T, Dattani M, Footitt E, Ganesan V, Grunewald S, Compeyrot-Lacassagne S, Muntoni F, Pilkington C, Quinlivan R, Thapar N, Wallis C, Wedderburn LR, Worth A, Bueser T, Compton C, Deshpande C, Fassihi H, Haque E, Izat… See abstract for full author list ➔ 100,000 Genomes Project Pilot Investigators, et al. Among authors: camps c. N Engl J Med. 2021 Nov 11;385(20):1868-1880. doi: 10.1056/NEJMoa2035790. N Engl J Med. 2021. PMID: 34758253 Free PMC article.
Perioperative Nivolumab and Chemotherapy in Stage III Non-Small-Cell Lung Cancer.
Provencio M, Nadal E, González-Larriba JL, Martínez-Martí A, Bernabé R, Bosch-Barrera J, Casal-Rubio J, Calvo V, Insa A, Ponce S, Reguart N, de Castro J, Mosquera J, Cobo M, Aguilar A, López Vivanco G, Camps C, López-Castro R, Morán T, Barneto I, Rodríguez-Abreu D, Serna-Blasco R, Benítez R, Aguado de la Rosa C, Palmero R, Hernando-Trancho F, Martín-López J, Cruz-Bermúdez A, Massuti B, Romero A. Provencio M, et al. Among authors: camps c. N Engl J Med. 2023 Aug 10;389(6):504-513. doi: 10.1056/NEJMoa2215530. Epub 2023 Jun 28. N Engl J Med. 2023. PMID: 37379158 Clinical Trial.
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT, Camps C, Giacopuzzi E, Taylor JM, Hashim M, Calpena E, Kaisaki PJ, Hashimoto A, Yu J, Sanders E, Schwessinger R, Hughes JR, Lunter G, Dreau H, Ferla M, Lange L, Kesim Y, Ragoussis V, Vavoulis DV, Allroggen H, Ansorge O, Babbs C, Banka S, Baños-Piñero B, Beeson D, Ben-Ami T, Bennett DL, Bento C, Blair E, Brasch-Andersen C, Bull KR, Cario H, Cilliers D, Conti V, Davies EG, Dhalla F, Dacal BD, Dong Y, Dunford JE, Guerrini R, Harris AL, Hartley J, Hollander G, Javaid K, Kane M, Kelly D, Kelly D, Knight SJL, Kreins AY, Kvikstad EM, Langman CB, Lester T, Lines KE, Lord SR, Lu X, Mansour S, Manzur A, Maroofian R, Marsden B, Mason J, McGowan SJ, Mei D, Mlcochova H, Murakami Y, Németh AH, Okoli S, Ormondroyd E, Ousager LB, Palace J, Patel SY, Pentony MM, Pugh C, Rad A, Ramesh A, Riva SG, Roberts I, Roy N, Salminen O, Schilling KD, Scott C, Sen A, Smith C, Stevenson M, Thakker RV, Twigg SRF, Uhlig HH, van Wijk R, Vona B, Wall S, Wang J, Watkins H, Zak J, Schuh AH, Kini U, Wilkie AOM, Popitsch N, Taylor JC. Pagnamenta AT, et al. Among authors: camps c. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
Preoperative chemotherapy plus surgery versus surgery plus adjuvant chemotherapy versus surgery alone in early-stage non-small-cell lung cancer.
Felip E, Rosell R, Maestre JA, Rodríguez-Paniagua JM, Morán T, Astudillo J, Alonso G, Borro JM, González-Larriba JL, Torres A, Camps C, Guijarro R, Isla D, Aguiló R, Alberola V, Padilla J, Sánchez-Palencia A, Sánchez JJ, Hermosilla E, Massuti B; Spanish Lung Cancer Group. Felip E, et al. Among authors: camps c. J Clin Oncol. 2010 Jul 1;28(19):3138-45. doi: 10.1200/JCO.2009.27.6204. Epub 2010 Jun 1. J Clin Oncol. 2010. PMID: 20516435 Clinical Trial.
Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency.
Blanco E, Camps C, Bahal S, Kerai MD, Ferla MP, Rochussen AM, Handel AE, Golwala ZM, Spiridou Goncalves H, Kricke S, Klein F, Zhang F, Zinghirino F, Evans G, Keane TM, Lizot S, Kusters MAA, Iro MA, Patel SV, Morris EC, Burns SO, Radcliffe R, Vasudevan P, Price A, Gillham O, Valdebenito GE, Stewart GS, Worth A, Adams SP, Duchen M, André I, Adams DJ, Santili G, Gilmour KC, Holländer GA, Davies EG, Taylor JC, Griffiths GM, Thrasher AJ, Dhalla F, Kreins AY. Blanco E, et al. Among authors: camps c. J Exp Med. 2025 Jan 6;222(1):e20220979. doi: 10.1084/jem.20220979. Epub 2024 Nov 19. J Exp Med. 2025. PMID: 39560673 Free PMC article.
KRAS-mutant non-small cell lung cancer (NSCLC) therapy based on tepotinib and omeprazole combination.
Rosell R, Jantus-Lewintre E, Cao P, Cai X, Xing B, Ito M, Gomez-Vazquez JL, Marco-Jordán M, Calabuig-Fariñas S, Cardona AF, Codony-Servat J, Gonzalez J, València-Clua K, Aguilar A, Pedraz-Valdunciel C, Dantes Z, Jain A, Chandan S, Molina-Vila MA, Arrieta O, Ferrero M, Camps C, González-Cao M. Rosell R, et al. Among authors: camps c. Cell Commun Signal. 2024 Jun 12;22(1):324. doi: 10.1186/s12964-024-01667-x. Cell Commun Signal. 2024. PMID: 38867255 Free PMC article.
Pharmacogenomics and gemcitabine.
Rosell R, Cobo M, Isla D, Camps C, Massuti B. Rosell R, et al. Among authors: camps c. Ann Oncol. 2006 May;17 Suppl 5:v13-16. doi: 10.1093/annonc/mdj942. Ann Oncol. 2006. PMID: 16807441 Free article. Review.
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Pagnamenta AT, Yu J, Walker S, Noble AJ, Lord J, Dutta P, Hashim M, Camps C, Green H, Devaiah S, Nashef L, Parr J, Fratter C, Ibnouf Hussein R, Lindsay SJ, Lalloo F, Banos-Pinero B, Evans D, Mallin L, Waite A, Evans J, Newman A, Allen Z, Perez-Becerril C, Ryan G, Hart R, Taylor J, Bedenham T, Clement E, Blair E, Hay E, Forzano F, Higgs J, Canham N, Majumdar A, McEntagart M, Lahiri N, Stewart H, Smithson S, Calpena E, Jackson A, Banka S, Titheradge H, McGowan R, Rankin J, Shaw-Smith C, Evans DG, Burghel GJ, Smith MJ, Anderson E, Madhu R, Firth H, Ellard S, Brennan P, Anderson C, Taupin D, Rogers MT, Cook JA, Durkie M, East JE, Fowler D, Wilson L, Igbokwe R, Gardham A, Tomlinson I, Baralle D, Uhlig HH, Taylor JC. Pagnamenta AT, et al. Among authors: camps c. Am J Hum Genet. 2024 Jun 6;111(6):1140-1164. doi: 10.1016/j.ajhg.2024.04.018. Epub 2024 May 21. Am J Hum Genet. 2024. PMID: 38776926 Free PMC article.
BRAF mutational status is associated with survival outcomes in locally advanced resectable and metastatic NSCLC.
Provencio M, Robado de Lope L, Serna-Blasco R, Nadal E, Diz Tain P, Massuti B, González-Larriba JL, Insa A, Sánchez-Hernández A, Casal-Rubio J, García-Campelo R, Sequero López S, Rogado J, Martínez-Martí A, Bosch-Barrera J, Bernabé R, Vázquez Estévez S, Ponce S, de Castro J, Coves Sarto J, Reguart N, Dómine M, Aguilar A, Majem M, Estival A, Peña Cabia S, López Martín A, Sala González MÁ, Cobo M, Camps C, Barneto I, Calvo V, Collazo-Lorduy A, Cruz-Bermúdez A, Romero A. Provencio M, et al. Among authors: camps c. Lung Cancer. 2024 Aug;194:107865. doi: 10.1016/j.lungcan.2024.107865. Epub 2024 Jun 26. Lung Cancer. 2024. PMID: 38945004 Free article.
Dacarbazine-induced photosensitivity.
Serrano G, Aliaga A, Febrer I, Pujol C, Camps C, Godes M. Serrano G, et al. Among authors: camps c. Photodermatol. 1989 Jun;6(3):140-1. Photodermatol. 1989. PMID: 2762206 No abstract available.
282 results