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

Year Number of Results
1969 1
1971 1
1986 1
1994 1
1996 1
1997 1
1998 1
1999 2
2001 4
2002 1
2003 1
2004 2
2007 2
2008 3
2009 4
2010 3
2011 5
2012 5
2013 6
2014 5
2015 8
2016 8
2017 10
2018 22
2019 25
2020 21
2021 25
2022 14
2023 9
2024 4

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170 results

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Page 1
Erratum to: Utility of clinical comprehensive genomic characterization for diagnostic categorization in patients presenting with hypocellular bone marrow failure syndromes.
Blombery P, Fox L, Ryland GL, Thompson ER, Lickiss J, McBean M, Yerneni S, Trainer A, Hughes D, Greenway A, Mechinaud F, Wood EM, Lieschke GJ, Szer J, Barbaro P, Roy J, Wight J, Lynch E, Martyn M, Gaff C, Ritchie D. Blombery P, et al. Among authors: trainer a. Haematologica. 2024 Apr 1;109(4):1311. doi: 10.3324/haematol.2023.284760. Haematologica. 2024. PMID: 38562077 Free PMC article. No abstract available.
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.
Meester JAN, Hebert A, Bastiaansen M, Rabaut L, Bastianen J, Boeckx N, Ashcroft K, Atwal PS, Benichou A, Billon C, Blankensteijn JD, Brennan P, Bucks SA, Campbell IM, Conrad S, Curtis SL, Dasouki M, Dent CL, Eden J, Goel H, Hartill V, Houweling AC, Isidor B, Jackson N, Koopman P, Korpioja A, Kraatari-Tiri M, Kuulavainen L, Lee K, Low KJ, Lu AC, McManus ML, Oakley SP, Oliver J, Organ NM, Overwater E, Revencu N, Trainer AH, Trivedi B, Turner CLS, Whittington R, Zankl A, Zentner D, Van Laer L, Verstraeten A, Loeys BL. Meester JAN, et al. Among authors: trainer ah. NPJ Genom Med. 2024 Mar 26;9(1):22. doi: 10.1038/s41525-024-00413-z. NPJ Genom Med. 2024. PMID: 38531898 Free PMC article.
The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.
Davidson AL, Dressel U, Norris S, Canson DM, Glubb DM, Fortuno C, Hollway GE, Parsons MT, Vidgen ME, Holmes O, Koufariotis LT, Lakis V, Leonard C, Wood S, Xu Q, McCart Reed AE, Pickett HA, Al-Shinnag MK, Austin RL, Burke J, Cops EJ, Nichols CB, Goodwin A, Harris MT, Higgins MJ, Ip EL, Kiraly-Borri C, Lau C, Mansour JL, Millward MW, Monnik MJ, Pachter NS, Ragunathan A, Susman RD, Townshend SL, Trainer AH, Troth SL, Tucker KM, Wallis MJ, Walsh M, Williams RA, Winship IM, Newell F, Tudini E, Pearson JV, Poplawski NK, Mar Fan HG, James PA, Spurdle AB, Waddell N, Ward RL. Davidson AL, et al. Among authors: trainer ah. Genome Med. 2023 Sep 19;15(1):74. doi: 10.1186/s13073-023-01223-1. Genome Med. 2023. PMID: 37723522 Free PMC article.
Development of a person-centred digital platform for the long-term support of people living with an adult-onset genetic disease predisposition: a mixed-methods study protocol.
Best S, Al Mahmud A, Tyagi S, Wheeler JCW, Forkan ARM, Lewis A, Shuakat N, Kaul R, Ward A, Wickramasinghe N, Jayaraman PP, Trainer AH. Best S, et al. Among authors: trainer ah. BMJ Open. 2023 Jul 30;13(7):e071492. doi: 10.1136/bmjopen-2022-071492. BMJ Open. 2023. PMID: 37518079 Free PMC article.
Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival.
Morra A, Schreurs MAC, Andrulis IL, Anton-Culver H, Augustinsson A, Beckmann MW, Behrens S, Bojesen SE, Bolla MK, Brauch H, Broeks A, Buys SS, Camp NJ, Castelao JE, Cessna MH, Chang-Claude J, Chung WK; NBCS Collaborators; Colonna SV, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Dennis J, Devilee P, Dörk T, Dunning AM, Dwek M, Easton DF, Eccles DM, Eriksson M, Evans DG, Fasching PA, Fehm TN, Figueroa JD, Flyger H, Gabrielson M, Gago-Dominguez M, García-Closas M, García-Sáenz JA, Genkinger J, Grassmann F, Gündert M, Hahnen E, Haiman CA, Hamann U, Harrington PA, Hartikainen JM, Hoppe R, Hopper JL, Houlston RS, Howell A; ABCTB Investigators; kConFab Investigators; Jakubowska A, Janni W, Jernström H, John EM, Johnson N, Jones ME, Kristensen VN, Kurian AW, Lambrechts D, Le Marchand L, Lindblom A, Lubiński J, Lux MP, Mannermaa A, Mavroudis D, Mulligan AM, Muranen TA, Nevanlinna H, Nevelsteen I, Neven P, Newman WG, Obi N, Offit K, Olshan AF, Park-Simon TW, Patel AV, Peterlongo P, Phillips KA, Plaseska-Karanfilska D, Polley EC, Presneau N, Pylkäs K, Rack B, Radice P, Rashid MU, Rhenius V, Robson M, Romero A, Saloustros E, Sawyer EJ, Schmutzler RK, Schuetze S, Scott C, Shah M, Smichkoska S,… See abstract for full author list ➔ Morra A, et al. Cancer Med. 2023 Aug;12(15):16142-16162. doi: 10.1002/cam4.6272. Epub 2023 Jul 3. Cancer Med. 2023. PMID: 37401034 Free PMC article.
Niraparib and Abiraterone Acetate for Metastatic Castration-Resistant Prostate Cancer.
Chi KN, Rathkopf D, Smith MR, Efstathiou E, Attard G, Olmos D, Lee JY, Small EJ, Pereira de Santana Gomes AJ, Roubaud G, Saad M, Zurawski B, Sakalo V, Mason GE, Francis P, Wang G, Wu D, Diorio B, Lopez-Gitlitz A, Sandhu S; MAGNITUDE Principal Investigators. Chi KN, et al. J Clin Oncol. 2023 Jun 20;41(18):3339-3351. doi: 10.1200/JCO.22.01649. Epub 2023 Mar 23. J Clin Oncol. 2023. PMID: 36952634 Free PMC article. Clinical Trial.
The impact of coding germline variants on contralateral breast cancer risk and survival.
Morra A, Mavaddat N, Muranen TA, Ahearn TU, Allen J, Andrulis IL, Auvinen P, Becher H, Behrens S, Blomqvist C, Bojesen SE, Bolla MK, Brauch H, Camp NJ, Carvalho S, Castelao JE, Cessna MH, Chang-Claude J, Chenevix-Trench G; NBCS Collaborators; Czene K, Decker B, Dennis J, Dörk T, Dorling L, Dunning AM, Ekici AB, Eriksson M, Evans DG, Fasching PA, Figueroa JD, Flyger H, Gago-Dominguez M, García-Closas M, Geurts-Giele WRR, Giles GG, Guénel P, Gündert M, Hahnen E, Hall P, Hamann U, Harrington PA, He W, Heikkilä P, Hooning MJ, Hoppe R, Howell A, Humphreys K; kConFab Investigators; Jakubowska A, Jung AY, Keeman R, Kristensen VN, Lubiński J, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Mavroudis D, Milne RL, Mulligan AM, Newman WG, Park-Simon TW, Peterlongo P, Pharoah PDP, Rhenius V, Saloustros E, Sawyer EJ, Schmutzler RK, Shah M, Spurdle AB, Tomlinson I, Truong T, van Veen EM, Vreeswijk MPG, Wang Q, Wendt C, Yang XR, Nevanlinna H, Devilee P, Easton DF, Schmidt MK. Morra A, et al. Am J Hum Genet. 2023 Mar 2;110(3):475-486. doi: 10.1016/j.ajhg.2023.02.003. Epub 2023 Feb 23. Am J Hum Genet. 2023. PMID: 36827971 Free PMC article.
170 results