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Items: 10

Select item 52919651.

Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel

Hartmut Döhner, Elihu Estey, David Grimwade, Sergio Amadori, Frederick R. Appelbaum, Thomas Büchner, Hervé Dombret, Benjamin L. Ebert, Pierre Fenaux, Richard A. Larson, Ross L. Levine, Francesco Lo-Coco, Tomoki Naoe, Dietger Niederwieser, Gert J. Ossenkoppele, Miguel Sanz, Jorge Sierra, Martin S. Tallman, Hwei-Fang Tien, Andrew H. Wei, Bob Löwenberg, Clara D. Bloomfield

Blood. 2017 Jan 26; 129(4): 424–447. Prepublished online 2016 Nov 28. doi: 10.1182/blood-2016-08-733196

PMCID:: PMC5291965

Abstract Article

Select item 50044642.

Whole exome sequencing reveals a C-terminal germline variant in CEBPA-associated acute myeloid leukemia: 45-year follow up of a large family

Anand Pathak, Katja Seipel, Alexander Pemov, Ramita Dewan, Christina Brown, Sarangan Ravichandran, Brian T. Luke, Michael Malasky, Shalabh Suman, Meredith Yeager, NCI DCEG Cancer Genomics Research Laboratory, NCI DCEG Cancer Sequencing Working Group, Richard A. Gatti, Neil E. Caporaso, John J. Mulvihill, Lynn R. Goldin, Thomas Pabst, Mary L. McMaster, Douglas R. Stewart

Haematologica. 2016 Jul; 101(7): 846–852. doi: 10.3324/haematol.2015.130799

PMCID:: PMC5004464

Abstract Article PDF–952K

Select item 47319253.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Abstract Article PDF–1.6M

Select item 45447534.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 37812135.

C/EBPa controls acquisition and maintenance of adult hematopoietic stem cell quiescence

Min Ye, Hong Zhang, Giovanni Amabile, Henry Yang, Philipp B. Staber, Pu Zhang, Elena Levantini, Meritxell Alberich-Jordà, Junyan Zhang, Akira Kawasaki, Daniel G. Tenen

Nat Cell Biol. Author manuscript; available in PMC 2013 Oct 1.

Published in final edited form as: Nat Cell Biol. 2013 Apr; 15(4): 385–394. Published online 2013 Mar 17. doi: 10.1038/ncb2698

PMCID:: PMC3781213

Abstract Article PDF–1.7M

Select item 37349016.

Recognizing familial myeloid leukemia in adults

Eric M. Nickels, Jesse Soodalter, Jane E. Churpek, Lucy A. Godley

Ther Adv Hematol. 2013 Aug; 4(4): 254–269. doi: 10.1177/2040620713487399

PMCID:: PMC3734901

Abstract Article PDF–749K

Select item 36965967.

Concordant acute myeloblastic leukemia in monozygotic twins with germline and shared somatic mutations in the gene for CCAAT-enhancer-binding protein α with 13 years difference at onset

Maruša Debeljak, Lidija Kitanovski, Tadej Pajič, Janez Jazbec

Haematologica. 2013 Jul; 98(7): e73–e74. doi: 10.3324/haematol.2012.082578

PMCID:: PMC3696596

Article PDF–595K

Select item 30462698.

Characterization of CEBPA mutations and promoter hypermethylation in pediatric acute myeloid leukemia

Iris H.I.M. Hollink, Marry M. van den Heuvel-Eibrink, Susan T.C.J.M. Arentsen-Peters, Martin Zimmermann, Justine K. Peeters, Peter J.M. Valk, Brian V. Balgobind, Edwin Sonneveld, Gertjan J.L. Kaspers, Eveline S.J.M. de Bont, Jan Trka, Andre Baruchel, Ursula Creutzig, Rob Pieters, Dirk Reinhardt, C. Michel Zwaan

Haematologica. 2011 Mar; 96(3): 384–392. Published online 2010 Dec 6. doi: 10.3324/haematol.2010.031336