PMC Links for Books (Select 5170152) - PMC

Select item 75566631.

First description of revertant mosaicism in familial platelet disorder with predisposition to acute myelogenous leukemia: correlation with the clinical phenotype

Ana C. Glembotsky, Cecilia P. Marin Oyarzún, Geraldine De Luca, Christophe Marzac, Nathalie Auger, Nora P. Goette, Rosana F. Marta, Hana Raslova, Paula G. Heller

Haematologica. 2020 Oct 1; 105(10): e535–e539. Published online 2020 Jul 16. doi: 10.3324/haematol.2020.253070

PMCID:: PMC7556663

Article PDF–1.1M

Select item 70940072.

RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML

Anna L. Brown, Peer Arts, Catherine L. Carmichael, Milena Babic, Julia Dobbins, Chan-Eng Chong, Andreas W. Schreiber, Jinghua Feng, Kerry Phillips, Paul P. S. Wang, Thuong Ha, Claire C. Homan, Sarah L. King-Smith, Lesley Rawlings, Cassandra Vakulin, Andrew Dubowsky, Jessica Burdett, Sarah Moore, Grace McKavanagh, Denae Henry, Amanda Wells, Belinda Mercorella, Mario Nicola, Jeffrey Suttle, Ella Wilkins, Xiao-Chun Li, Joelle Michaud, Peter Brautigan, Ping Cannon, Meryl Altree, Louise Jaensch, Miriam Fine, Carolyn Butcher, Richard J. D’Andrea, Ian D. Lewis, Devendra K. Hiwase, Elli Papaemmanuil, Marshall S. Horwitz, Georges Natsoulis, Hugh Y. Rienhoff, Jr, Nigel Patton, Sally Mapp, Rachel Susman, Susan Morgan, Julian Cooney, Mark Currie, Uday Popat, Tilmann Bochtler, Shai Izraeli, Kenneth Bradstock, Lucy A. Godley, Alwin Krämer, Stefan Fröhling, Andrew H. Wei, Cecily Forsyth, Helen Mar Fan, Nicola K. Poplawski, Christopher N. Hahn, Hamish S. Scott

Blood Adv. 2020 Mar 24; 4(6): 1131–1144. Published online 2020 Mar 24. doi: 10.1182/bloodadvances.2019000901

PMCID:: PMC7094007

Abstract Article PDF–1.1M

Select item 68499453.

ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants

Xi Luo, Simone Feurstein, Shruthi Mohan, Christopher C. Porter, Sarah A. Jackson, Sioban Keel, Michael Chicka, Anna L. Brown, Chimene Kesserwan, Anupriya Agarwal, Minjie Luo, Zejuan Li, Justyne E. Ross, Panagiotis Baliakas, Daniel Pineda-Alvarez, Courtney D. DiNardo, Alison A. Bertuch, Nikita Mehta, Tom Vulliamy, Ying Wang, Kim E. Nichols, Luca Malcovati, Michael F. Walsh, Lesley H. Rawlings, Shannon K. McWeeney, Jean Soulier, Anna Raimbault, Mark J. Routbort, Liying Zhang, Gabriella Ryan, Nancy A. Speck, Sharon E. Plon, David Wu, Lucy A. Godley

Blood Adv. 2019 Oct 22; 3(20): 2962–2979. Published online 2019 Oct 16. doi: 10.1182/bloodadvances.2019000644

PMCID:: PMC6849945

Abstract Article PDF–1.0M

Select item 57702364.

The RUNX family in breast cancer: relationships with estrogen signaling

N-O Chimge, B Frenkel

Oncogene. Author manuscript; available in PMC 2018 Jan 16.

Published in final edited form as: Oncogene. 2013 Apr 25; 32(17): 2121–2130. Published online 2012 Oct 8. doi: 10.1038/onc.2012.328

PMCID:: PMC5770236

Abstract Article PDF–600K

Select item 57424245.

RUNX1 Mutations in Inherited and Sporadic Leukemia

Dana C. Bellissimo, Nancy A. Speck

Front Cell Dev Biol. 2017; 5: 111. Published online 2017 Dec 20. doi: 10.3389/fcell.2017.00111

PMCID:: PMC5742424

Abstract Article PDF–1.0M

Select item 53916186.

Role of RUNX1 in hematological malignancies

Raman Sood, Yasuhiko Kamikubo, Paul Liu

Blood. 2017 Apr 13; 129(15): 2070–2082. Prepublished online 2017 Feb 8. doi: 10.1182/blood-2016-10-687830

Correction in:: Blood. 2018 Jan 18; 131(3): 373.

PMCID:: PMC5391618

Abstract Article

Select item 49683417.

Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies

Maya Lewinsohn, Anna L. Brown, Luke M. Weinel, Connie Phung, George Rafidi, Ming K. Lee, Andreas W. Schreiber, Jinghua Feng, Milena Babic, Chan-Eng Chong, Young Lee, Agnes Yong, Graeme K. Suthers, Nicola Poplawski, Meryl Altree, Kerry Phillips, Louise Jaensch, Miriam Fine, Richard J. D’Andrea, Ian D. Lewis, Bruno C. Medeiros, Daniel A. Pollyea, Mary-Claire King, Tom Walsh, Siobán Keel, Akiko Shimamura, Lucy A. Godley, Christopher N. Hahn, Jane E. Churpek, Hamish S. Scott

Blood. 2016 Feb 25; 127(8): 1017–1023. Prepublished online 2015 Dec 28. doi: 10.1182/blood-2015-10-676098

PMCID:: PMC4968341

Abstract Article

Select item 47319258.

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 45447539.

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 318631610.

Familial myelodysplastic syndromes: a review of the literature

Elena Liew, Carolyn Owen

Haematologica. 2011 Oct; 96(10): 1536–1542. Published online 2011 May 23. doi: 10.3324/haematol.2011.043422

PMCID:: PMC3186316

Abstract Article PDF–285K

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