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Year Number of Results
2009 1
2010 3
2011 1
2012 2
2013 2
2014 1
2016 1
2017 2
2018 6
2019 3
2020 1
2021 7
2022 3
2023 1
2024 0

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27 results

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Page 1
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. Among authors: dreau h. 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.
Genomic and transcriptomic correlates of Richter transformation in chronic lymphocytic leukemia.
Klintman J, Appleby N, Stamatopoulos B, Ridout K, Eyre TA, Robbe P, Pascua LL, Knight SJL, Dreau H, Cabes M, Popitsch N, Ehinger M, Martín-Subero JI, Campo E, Månsson R, Rossi D, Taylor JC, Vavoulis DV, Schuh A. Klintman J, et al. Among authors: dreau h. Blood. 2021 May 20;137(20):2800-2816. doi: 10.1182/blood.2020005650. Blood. 2021. PMID: 33206936 Free PMC article. Clinical Trial.
Clinical utility of whole-genome sequencing in precision oncology.
Rosenquist R, Cuppen E, Buettner R, Caldas C, Dreau H, Elemento O, Frederix G, Grimmond S, Haferlach T, Jobanputra V, Meggendorfer M, Mullighan CG, Wordsworth S, Schuh A. Rosenquist R, et al. Among authors: dreau h. Semin Cancer Biol. 2022 Sep;84:32-39. doi: 10.1016/j.semcancer.2021.06.018. Epub 2021 Jun 25. Semin Cancer Biol. 2022. PMID: 34175442 Review.
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: dreau h. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
FOXN1 forms higher-order nuclear condensates displaced by mutations causing immunodeficiency.
Rota IA, Handel AE, Maio S, Klein F, Dhalla F, Deadman ME, Cheuk S, Newman JA, Michaels YS, Zuklys S, Prevot N, Hublitz P, Charles PD, Gkazi AS, Adamopoulou E, Qasim W, Davies EG, Hanson I, Pagnamenta AT, Camps C, Dreau HM, White A, James K, Fischer R, Gileadi O, Taylor JC, Fulga T, Lagerholm BC, Anderson G, Sezgin E, Holländer GA. Rota IA, et al. Among authors: dreau hm. Sci Adv. 2021 Dec 3;7(49):eabj9247. doi: 10.1126/sciadv.abj9247. Epub 2021 Dec 3. Sci Adv. 2021. PMID: 34860543 Free PMC article.
Provocation Testing and Therapeutic Response in a Newly Described Channelopathy: RyR2 Calcium Release Deficiency Syndrome.
Ormerod JOM, Ormondroyd E, Li Y, Taylor J, Wei J, Guo W, Wang R, Sarton CNS, McGuire K, Dreau HMP, Taylor JC, Ginks MR, Rajappan K, Chen SRW, Watkins H. Ormerod JOM, et al. Among authors: dreau hmp. Circ Genom Precis Med. 2022 Feb;15(1):e003589. doi: 10.1161/CIRCGEN.121.003589. Epub 2021 Dec 24. Circ Genom Precis Med. 2022. PMID: 34949103 Free article.
Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening.
Baxley RM, Leung W, Schmit MM, Matson JP, Yin L, Oram MK, Wang L, Taylor J, Hedberg J, Rogers CB, Harvey AJ, Basu D, Taylor JC, Pagnamenta AT, Dreau H, Craft J, Ormondroyd E, Watkins H, Hendrickson EA, Mace EM, Orange JS, Aihara H, Stewart GS, Blair E, Cook JG, Bielinsky AK. Baxley RM, et al. Among authors: dreau h. Nat Commun. 2021 Mar 12;12(1):1626. doi: 10.1038/s41467-021-21878-x. Nat Commun. 2021. PMID: 33712616 Free PMC article.
Validation of clinical-grade whole genome sequencing reproduces cytogenetic analysis and identifies mutational landscape in newly-diagnosed multiple myeloma patients: A pilot study from the 100,000 Genomes Project.
Lomas OC, Gooding S, Cabes M, Dreau H, Wilson E, Polzella P; Genomics England Research Consortium; Ramasamy K, Hamblin AD. Lomas OC, et al. Among authors: dreau h. EJHaem. 2021 Aug 26;2(4):809-812. doi: 10.1002/jha2.276. eCollection 2021 Nov. EJHaem. 2021. PMID: 35845211 Free PMC article.
Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma.
Roberts HE, Lopopolo M, Pagnamenta AT, Sharma E, Parkes D, Lonie L, Freeman C, Knight SJL, Lunter G, Dreau H, Lockstone H, Taylor JC, Schuh A, Bowden R, Buck D. Roberts HE, et al. Among authors: dreau h. Sci Rep. 2021 Mar 19;11(1):6408. doi: 10.1038/s41598-021-85354-8. Sci Rep. 2021. PMID: 33742045 Free PMC article.
27 results