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Matthias Voss
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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

Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms

Bianca Tesi, Josef Davidsson, Matthias Voss, Elisa Rahikkala, Tim D. Holmes, Samuel C. C. Chiang, Jonna Komulainen-Ebrahim, Sorina Gorcenco, Alexandra Rundberg Nilsson, Tim Ripperger, Hannaleena Kokkonen, David Bryder, Thoas Fioretos, Jan-Inge Henter, Merja Möttönen, Riitta Niinimäki, Lars Nilsson, Cornelis Jan Pronk, Andreas Puschmann, Hong Qian, Johanna Uusimaa, Jukka Moilanen, Ulf Tedgård, Jörg Cammenga, Yenan T. Bryceson
Journal: Blood
Blood (2017) 129 (16): 2266–2279.
https://doi.org/10.1182/blood-2016-10-743302
Published: 2017
Includes: Supplemental data
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