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Jonna Komulainen-Ebrahim
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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