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Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project.
Robbe P, Popitsch N, Knight SJL, Antoniou P, Becq J, He M, Kanapin A, Samsonova A, Vavoulis DV, Ross MT, Kingsbury Z, Cabes M, Ramos SDC, Page S, Dreau H, Ridout K, Jones LJ, Tuff-Lacey A, Henderson S, Mason J, Buffa FM, Verrill C, Maldonado-Perez D, Roxanis I, Collantes E, Browning L, Dhar S, Damato S, Davies S, Caulfield M, Bentley DR, Taylor JC, Turnbull C, Schuh A; 100,000 Genomes Project. Robbe P, et al. Among authors: dreau h. Genet Med. 2018 Oct;20(10):1196-1205. doi: 10.1038/gim.2017.241. Epub 2018 Feb 1. Genet Med. 2018. PMID: 29388947 Free PMC article.
Quantification of subclonal distributions of recurrent genomic aberrations in paired pre-treatment and relapse samples from patients with B-cell chronic lymphocytic leukemia.
Knight SJ, Yau C, Clifford R, Timbs AT, Sadighi Akha E, Dréau HM, Burns A, Ciria C, Oscier DG, Pettitt AR, Dutton S, Holmes CC, Taylor J, Cazier JB, Schuh A. Knight SJ, et al. Among authors: dreau hm. Leukemia. 2012 Jul;26(7):1564-75. doi: 10.1038/leu.2012.13. Epub 2012 Jan 19. Leukemia. 2012. PMID: 22258401 Free PMC article.
SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage.
Clifford R, Louis T, Robbe P, Ackroyd S, Burns A, Timbs AT, Wright Colopy G, Dreau H, Sigaux F, Judde JG, Rotger M, Telenti A, Lin YL, Pasero P, Maelfait J, Titsias M, Cohen DR, Henderson SJ, Ross MT, Bentley D, Hillmen P, Pettitt A, Rehwinkel J, Knight SJ, Taylor JC, Crow YJ, Benkirane M, Schuh A. Clifford R, et al. Among authors: dreau h. Blood. 2014 Feb 13;123(7):1021-31. doi: 10.1182/blood-2013-04-490847. Epub 2013 Dec 12. Blood. 2014. PMID: 24335234 Free PMC article.
A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias.
Roy NB, Wilson EA, Henderson S, Wray K, Babbs C, Okoli S, Atoyebi W, Mixon A, Cahill MR, Carey P, Cullis J, Curtin J, Dreau H, Ferguson DJ, Gibson B, Hall G, Mason J, Morgan M, Proven M, Qureshi A, Sanchez Garcia J, Sirachainan N, Teo J, Tedgård U, Higgs D, Roberts D, Roberts I, Schuh A. Roy NB, et al. Among authors: dreau h. Br J Haematol. 2016 Oct;175(2):318-330. doi: 10.1111/bjh.14221. Epub 2016 Jul 19. Br J Haematol. 2016. PMID: 27432187 Free PMC article.
Whole-genome sequencing identifies homozygous BRCA2 deletion guiding treatment in dedifferentiated prostate cancer.
Purshouse K, Schuh A, Fairfax BP, Knight S, Antoniou P, Dreau H, Popitsch N, Gatter K, Roberts I, Browning L, Traill Z, Kerr D, Verrill C, Tuthill M, Taylor JC, Protheroe A. Purshouse K, et al. Among authors: dreau h. Cold Spring Harb Mol Case Stud. 2017 May;3(3):a001362. doi: 10.1101/mcs.a001362. Cold Spring Harb Mol Case Stud. 2017. PMID: 28487881 Free PMC article.
41 results