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Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms.
Tapper W, Jones AV, Kralovics R, Harutyunyan AS, Zoi K, Leung W, Godfrey AL, Guglielmelli P, Callaway A, Ward D, Aranaz P, White HE, Waghorn K, Lin F, Chase A, Baxter EJ, Maclean C, Nangalia J, Chen E, Evans P, Short M, Jack A, Wallis L, Oscier D, Duncombe AS, Schuh A, Mead AJ, Griffiths M, Ewing J, Gale RE, Schnittger S, Haferlach T, Stegelmann F, Döhner K, Grallert H, Strauch K, Tanaka T, Bandinelli S, Giannopoulos A, Pieri L, Mannarelli C, Gisslinger H, Barosi G, Cazzola M, Reiter A, Harrison C, Campbell P, Green AR, Vannucchi A, Cross NC. Tapper W, et al. Among authors: schuh a. Nat Commun. 2015 Apr 7;6:6691. doi: 10.1038/ncomms7691. Nat Commun. 2015. PMID: 25849990 Free PMC article.
Impact of isolated germline JAK2V617I mutation on human hematopoiesis.
Mead AJ, Chowdhury O, Pecquet C, Dusa A, Woll P, Atkinson D, Burns A, Score J, Rugless M, Clifford R, Moule S, Bienz N, Vyas P, Cross N, Gale RE, Henderson S, Constantinescu SN, Schuh A, Jacobsen SE. Mead AJ, et al. Among authors: schuh a. Blood. 2013 May 16;121(20):4156-65. doi: 10.1182/blood-2012-05-430926. Epub 2013 Mar 27. Blood. 2013. PMID: 23535062 Free article.
Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression.
Fernandez-Mercado M, Pellagatti A, Di Genua C, Larrayoz MJ, Winkelmann N, Aranaz P, Burns A, Schuh A, Calasanz MJ, Cross NC, Boultwood J. Fernandez-Mercado M, et al. Among authors: schuh a. Br J Haematol. 2013 Oct;163(2):235-9. doi: 10.1111/bjh.12491. Epub 2013 Jul 24. Br J Haematol. 2013. PMID: 23889083 Free article.
Guidelines for the measurement of BCR-ABL1 transcripts in chronic myeloid leukaemia.
Foroni L, Wilson G, Gerrard G, Mason J, Grimwade D, White HE, de Castro DG, Austin S, Awan A, Burt E, Clench T, Farruggia J, Hancock J, Irvine AE, Kizilors A, Langabeer S, Milner BJ, Nickless G, Schuh A, Sproul A, Wang L, Wickham C, Cross NC. Foroni L, et al. Among authors: schuh a. Br J Haematol. 2011 Apr;153(2):179-90. doi: 10.1111/j.1365-2141.2011.08603.x. Epub 2011 Mar 8. Br J Haematol. 2011. PMID: 21382019 Free article.
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.
Taylor JC, Martin HC, Lise S, Broxholme J, Cazier JB, Rimmer A, Kanapin A, Lunter G, Fiddy S, Allan C, Aricescu AR, Attar M, Babbs C, Becq J, Beeson D, Bento C, Bignell P, Blair E, Buckle VJ, Bull K, Cais O, Cario H, Chapel H, Copley RR, Cornall R, Craft J, Dahan K, Davenport EE, Dendrou C, Devuyst O, Fenwick AL, Flint J, Fugger L, Gilbert RD, Goriely A, Green A, Greger IH, Grocock R, Gruszczyk AV, Hastings R, Hatton E, Higgs D, Hill A, Holmes C, Howard M, Hughes L, Humburg P, Johnson D, Karpe F, Kingsbury Z, Kini U, Knight JC, Krohn J, Lamble S, Langman C, Lonie L, Luck J, McCarthy D, McGowan SJ, McMullin MF, Miller KA, Murray L, Németh AH, Nesbit MA, Nutt D, Ormondroyd E, Oturai AB, Pagnamenta A, Patel SY, Percy M, Petousi N, Piazza P, Piret SE, Polanco-Echeverry G, Popitsch N, Powrie F, Pugh C, Quek L, Robbins PA, Robson K, Russo A, Sahgal N, van Schouwenburg PA, Schuh A, Silverman E, Simmons A, Sørensen PS, Sweeney E, Taylor J, Thakker RV, Tomlinson I, Trebes A, Twigg SR, Uhlig HH, Vyas P, Vyse T, Wall SA, Watkins H, Whyte MP, Witty L, Wright B, Yau C, Buck D, Humphray S, Ratcliffe PJ, Bell JI, Wilkie AO, Bentley D, Donnelly P, McVean G. Taylor JC, et al. Among authors: schuh a. Nat Genet. 2015 Jul;47(7):717-726. doi: 10.1038/ng.3304. Epub 2015 May 18. Nat Genet. 2015. PMID: 25985138 Free PMC article.
TP53 Mutations Identified Using NGS Comprise the Overwhelming Majority of TP53 Disruptions in CLL: Results From a Multicentre Study.
Catherwood MA, Wren D, Chiecchio L, Cavalieri D, Donaldson D, Lawless S, ElHassadi E, Hayat A, Cahill MR, O'Shea D, Sargent J, Stewart P, Maurya M, Quinn J, Murphy P, de Castro DG, Mills K, Cross NCP, Forconi F, Iyengar S, Schuh A, Thornton P. Catherwood MA, et al. Among authors: schuh a. Front Oncol. 2022 Jun 28;12:909615. doi: 10.3389/fonc.2022.909615. eCollection 2022. Front Oncol. 2022. PMID: 35837095 Free PMC article.
Monitoring chronic lymphocytic leukemia progression by whole genome sequencing reveals heterogeneous clonal evolution patterns.
Schuh A, Becq J, Humphray S, Alexa A, Burns A, Clifford R, Feller SM, Grocock R, Henderson S, Khrebtukova I, Kingsbury Z, Luo S, McBride D, Murray L, Menju T, Timbs A, Ross M, Taylor J, Bentley D. Schuh A, et al. Blood. 2012 Nov 15;120(20):4191-6. doi: 10.1182/blood-2012-05-433540. Epub 2012 Aug 22. Blood. 2012. PMID: 22915640 Free article.
888 results