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Journal Articles

Role of Genetic Evolution and Germline Mutations in SAMD9 and SAMD9L Genes

Jason R Schwartz, MD PhD, Marcin W. Wlodarski, MD PhD, Jeffery M. Klco, MD PhD
Journal: Blood
Blood (2019) 134 (Supplement_1): SCI-33.
https://doi.org/10.1182/blood-2019-121042
Published: 2019
Journal Articles

Novel V1551L Mutation in SAMD9L Inhibits Cell Cycle Progression and Results in Pancytopenia That Progresses to MDS with Monosomy 7

Rebecca Ortolano, MD, Dina S. Parekh, MD, Benjamin J Rosen, MD, Victoria Bryant, PhD MSc, Dong-Hui Chen, PhD, Jeffery M. Klco, MD PhD, Wendy Herlihy Raskind, MD PhD, Kenneth Lieuw, MD PhD
Journal: Blood
Blood (2018) 132 (Supplement 1): 3863.
https://doi.org/10.1182/blood-2018-99-120250
Published: 2018
Journal Articles

Clonal Evolution in the Setting of Germline Predisposition

Anna L Brown, PhD, Jane Churpek, MD, Christopher N Hahn, PhD, Hamish S Scott, BSc, PhD FFSc (RCPA), FAHMS
Journal: Blood
Blood (2017) 130 (Supplement 1): SCI-39.
https://doi.org/10.1182/blood.V130.Suppl_1.SCI-39.SCI-39
Published: 2017
Journal Articles

Constitutional SAMD9L Mutations Cause Familial Myelodisplastic Syndrome with Monosomy 7 and Stable Revertant Mosaicism

Victor Pastor Loyola, MSc, Sushree Sangita Sahoo, M.Sc., Jessica Boklan, MD, Georg Schwabe, PD Dr. MD, Brigitte Strahm, PD Dr., Dirk Lebrecht, PhD, Matthias Voss, PhD, Yenan T Bryceson, PhD, Miriam Erlacher, MD PhD, Gerhard Ehninger, Marena Niewisch, MD, Brigitte Schlegelberger, Prof. Dr., Irith Baumann, Dr. MD, John Achermann, MD PhD, Akiko Shimamura, MD, Jochen Hochrein, PhD, Ulf Tedgaard, MD PhD, Lars Nilsson, PhD, Henrik Hasle, MD PhD, Melanie Börries, PhD, Hauke Busch, PhD, Charlotte M. Niemeyer, MD, Marcin W. Wlodarski, MD PhD
Journal: Blood
Blood (2017) 130 (Supplement 1): 1672.
https://doi.org/10.1182/blood.V130.Suppl_1.1672.1672
Published: 2017
Journal Articles

Cytopenia, Predisposition to Myelodysplastic Syndrome, Immunodeficiency, and Neurological Disease Caused By Gain-of-Function SAMD9L Mutations Is Frequently Ameliorated By Hematopoietic Revertant Mosaicism

Bianca Tesi, Josef Davidsson, Matthias Voss, Timothy Holmes, Tim Ripperger, Samuel Chiang, Lars Nilsson, Magnus Nordenskjöld, Jan-Inge Henter, David Bryder, Thoas Fioretos, Johanna Uusimaa, Jonna Komulainen-Ebrahim, Merja Möttönen, Riitta Niinimäki, Jukka Moilanen, Elisa Rahikkala, Ulf Tedgård, Jörg Cammenga, Yenan Bryceson
Journal: Blood
Blood (2016) 128 (22): 4299.
https://doi.org/10.1182/blood.V128.22.4299.4299
Published: 2016