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Journal Articles

Expanded Phenotypic and Genetic Heterogeneity in the Clinical Spectrum of FPD-AML: Lymphoid Malignancies and Skin Disorders Are Common Features in Carriers of Germline RUNX1 Mutations

Anna L Brown, PhD, Christopher N Hahn, PhD, Catherine Carmichael, Ella Wilkins, Milena Babic, BMPharBio (Hons), Chan-Eng Chong, PhD, Xiao-Chun Li, Joelle Michaud, Ping Cannon, Nicola Poplawski, MBChB, DipPaed, FRACP, MD, Meryl Altree, Kerry Phillips, Louise Jaensch, Miriam Fine, Andreas W Schreiber, PhD, Jinghua Feng, PhD, Lesley Rawlings, PhD, Cassandra Vakulin, Carolyn Butcher, Richard D'Andrea, PhD, Ian D Lewis, MBBS, PhD FRACP, FRCPA, Nigel Patton, Cecily Forsyth, MBBS, FRACP, FRCPA, Sally Mapp, PhD MD, Helen Mar Fan, Rachel Susman, Sue Morgan, FRACP, FRCPA, MBBS, Julian Cooney, MD, Mark S Currie, MD, Uday R. Popat, MD, Kenneth Bradstock, MBBS, PhD, April D. Sorrell, MD, Carolyn J. Owen, MD MDes(UK), FRCPC, Marshall S Horwitz, MD PhD, Devendra Hiwase, MBBS, FRACP, FRCPA, MD PhD, Alwin Krämer, MD, Stefan Fröhling, MD, Lucy A Godley, MD PhD, Jane E Churpek, MD, Hamish S Scott, BSc, PhD FFSc (RCPA), FAHMS
Journal: Blood
Blood (2016) 128 (22): 1212.
https://doi.org/10.1182/blood.V128.22.1212.1212
Published: 2016
Journal Articles

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

Brief Report
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
Journal: Blood
Blood (2016) 127 (8): 1017–1023.
https://doi.org/10.1182/blood-2015-10-676098
Published: 2016
Includes: Supplemental data
Journal Articles

GATA2 is a New Predisposition Gene for Familial Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia (AML)

Hamish S Scott, PhD, Christopher N Hahn, PhD, Catherine L Carmichael, PhD, Ella J Wilkins, BSc(Hon), Chan-Eng Chong, MSc, Peter J Brautigan, BSc(Hon), Xiao-Chun Li, MSc, Milena Stankovic, BSc(Hon), Ming Lin, BSc(Hon), Amandine Carmagnac, BSc, Carolyn M Butcher, MMedSc(Hon), Kathryn L Friend, PhD, Paul G Ekert, MBBS, PhD, Chung H Kok, BSc(Hon), Anna L Brown, PhD, Ian D Lewis, MBBS, PhD, L. Bik To, MD, Andrew E Timms, PhD, Jan Storek, MD, PhD, Sarah Moore, BSc(Hon), Meryl Altree, BNg, Robert Escher, MD, Peter G Bardy, MBBS, Graeme K Suthers, MBBS, PhD, Richard J D'Andrea, PhD, Marshall S Horwitz, MD, PhD
Journal: Blood
Blood (2010) 116 (21): LBA-3.
https://doi.org/10.1182/blood.V116.21.LBA-3.LBA-3
Published: 2010
Journal Articles

Novel Heritable Mutation of the Transcription Factor RUNX1 as a Cause of Autosomal Dominant Familial Platelet Disorder with Predisposition to Acute Myeloid Leukemia (FPD/AML).

William N. Patton, MD, Graeme Suthers, PhD, Meryl Altree, Catherine Carmichael, BSc(Hons), Ella Wilkins, BSc(Hons), Jacqueline Carroll, MSc, Lesley Rawlings, PhD, Hamish Scott, PhD
Journal: Blood
Blood (2007) 110 (11): 4244.
https://doi.org/10.1182/blood.V110.11.4244.4244
Published: 2007