@article{riley:hal-02118688, TITLE = {{The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2}}, AUTHOR = {Riley, Lisa and Heeney, Matthew and Rudinger-Thirion, Jo{\"e}lle and Frugier, Magali and Campagna, Dean and Zhou, Ronghao and Hale, Gregory A. and Hilliard, Lee and Kaplan, Joel and Kwiatkowski, Janet and Sieff, Colin and Steensma, David and Rennings, Alexander and Simons, Annet and Schaap, Nicolaas and Roodenburg, Richard and Kleefstra, Tjitske and Arenillas, Leonor and Fita-Torr{\'o}, Josep and Ahmed, Rasha and Abboud, Miguel and Bechara, Elie and Farah, Roula and Tamminga, Rienk and Bottomley, Sylvia and Sanchez, Mayka and Huls, Gerwin and Swinkels, Dorine and Christodoulou, John and Fleming, Mark}, URL = {https://cnrs.hal.science/hal-02118688}, JOURNAL = {{Haematologica}}, PUBLISHER = {{Ferrata Storti Foundation}}, VOLUME = {103}, NUMBER = {12}, PAGES = {2008-2015}, YEAR = {2018}, MONTH = Nov, DOI = {10.3324/haematol.2017.182659}, HAL_ID = {hal-02118688}, HAL_VERSION = {v1}, }