PMC Links for OMIM (Select 600618) - PMC

Select item 46316131.

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia

Leila Noetzli, Richard W. Lo, Alisa B. Lee-Sherick, Michael Callaghan, Patrizia Noris, Anna Savoia, Madhvi Rajpurkar, Kenneth Jones, Katherine Gowan, Carlo Balduini, Alessandro Pecci, Chiara Gnan, Daniela De Rocco, Michael Doubek, Ling Li, Lily Lu, Richard Leung, Carolina Landolt-Marticorena, Stephen Hunger, Paula Heller, Arthur Gutierrez-Hartmann, Liang Xiayuan, Fred G. Pluthero, Jesse W. Rowley, Andrew S. Weyrich, Walter H. A. Kahr, Christopher C. Porter, Jorge Di Paola

Nat Genet. Author manuscript; available in PMC 2015 Nov 3.

Published in final edited form as: Nat Genet. 2015 May; 47(5): 535–538. Published online 2015 Mar 25. doi: 10.1038/ng.3253

PMCID:: PMC4631613

Abstract Article PDF–700K

Select item 45403572.

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy

Michael Y Zhang, Jane E Churpek, Siobán B Keel, Tom Walsh, Ming K Lee, Keith R Loeb, Suleyman Gulsuner, Colin C Pritchard, Marilyn Sanchez-Bonilla, Jeffrey J Delrow, Ryan S Basom, Melissa Forouhar, Boglarka Gyurkocza, Bradford S Schwartz, Barbara Neistadt, Rafael Marquez, Christopher J Mariani, Scott A Coats, Inga Hofmann, R Coleman Lindsley, David A Williams, Janis L Abkowitz, Marshall S Horwitz, Mary-Claire King, Lucy A Godley, Akiko Shimamura

Nat Genet. Author manuscript; available in PMC 2015 Aug 18.

Published in final edited form as: Nat Genet. 2015 Feb; 47(2): 180–185. Published online 2015 Jan 12. doi: 10.1038/ng.3177

PMCID:: PMC4540357

Abstract Article PDF–878K

Select item 39606363.

RAG-mediated recombination is the predominant driver of oncogenic rearrangement in ETV6-RUNX1 acute lymphoblastic leukemia

Elli Papaemmanuil, Inmaculada Rapado, Yilong Li, Nicola E Potter, David C Wedge, Jose Tubio, Ludmil B Alexandrov, Peter Van Loo, Susanna L Cooke, John Marshall, Inigo Martincorena, Jonathan Hinton, Gunes Gundem, Frederik W van Delft, Serena Nik-Zainal, David R Jones, Manasa Ramakrishna, Ian Titley, Lucy Stebbings, Catherine Leroy, Andrew Menzies, John Gamble, Ben Robinson, Laura Mudie, Keiran Raine, Sarah O’Meara, Jon W Teague, Adam P Butler, Giovanni Cazzaniga, Andrea Biondi, Jan Zuna, Helena Kempski, Markus Muschen, Anthony M Ford, Michael R Stratton, Mel Greaves, Peter J Campbell

Nat Genet. Author manuscript; available in PMC 2014 Mar 20.

Published in final edited form as: Nat Genet. 2014 Feb; 46(2): 116–125. Published online 2014 Jan 12. doi: 10.1038/ng.2874