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Page 1
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: schuh ah. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
Genomic Stratification of Hematological Malignancies.
Robbe P, Schuh A. Robbe P, et al. Hemasphere. 2023 May 25;7(6):e902. doi: 10.1097/HS9.0000000000000902. eCollection 2023 Jun. Hemasphere. 2023. PMID: 37251914 Free PMC article. No abstract available.
Guideline for the treatment of chronic lymphocytic leukaemia.
Walewska R, Parry-Jones N, Eyre TA, Follows G, Martinez-Calle N, McCarthy H, Parry H, Patten PEM, Riches JC, Hillmen P, Schuh AH. Walewska R, et al. Among authors: schuh ah. Br J Haematol. 2022 Jun;197(5):544-557. doi: 10.1111/bjh.18075. Epub 2022 Mar 21. Br J Haematol. 2022. PMID: 35313007 No abstract available.
Comparative analysis of targeted novel therapies in relapsed, refractory chronic lymphocytic leukaemia.
Eyre TA, Lamanna N, Roeker LE, Ujjani CS, Hill BT, Barr PM, Lansigan E, Cheson BD, Yazdy M, Allan JN, Rhodes J, Schuster SJ, Nabhan C, Skarbnik A, Leslie L, Islam P, Whitaker K, Coombs CC, Tuncer HH, Pagel JM, Jacobs R, Winter AM, Bailey N, Sitlinger A, Schuh AH, Follows G, Fox CP, Brander DM, Shadman M, Mato AR. Eyre TA, et al. Among authors: schuh ah. Haematologica. 2021 Jan 1;106(1):284-287. doi: 10.3324/haematol.2019.241539. Haematologica. 2021. PMID: 32079693 Free PMC article. No abstract available.
Dual dependence on BCL2 and MCL1 in T-cell prolymphocytic leukemia.
Smith VM, Lomas O, Constantine D, Palmer L, Schuh AH, Bruce D, Gonchar O, Macip S, Jayne S, Dyer MJS, Eyre TA. Smith VM, et al. Among authors: schuh ah. Blood Adv. 2020 Feb 11;4(3):525-529. doi: 10.1182/bloodadvances.2019000917. Blood Adv. 2020. PMID: 32040552 Free PMC article.
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