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Blood|January 21, 2014
Mutations in Kruppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expressionVip Viprakasit, Supachai Ekwattanakit, Suchada Riolueang, et al.
BMJ Open|March 23, 2023
The Pyruvate Kinase Deficiency Global Longitudinal (Peak) Registry: rationale and study designRachael F Grace, Eduard J van Beers, Joan-Lluis Vives Corrons, et al.
International Journal of Hematology|March 15, 2016
PIEZO1 gene mutation in a Japanese family with hereditary high phosphatidylcholine hemolytic anemia and hemochromatosis-induced diabetes mellitusShinsaku Imashuku, Hideki Muramatsu, Takashi Sugihara, et al.
Ejhaem|July 18, 2022
Dyserythropoietic anaemia with an intronic <i>GATA1</i> splicing mutation in patients suspected to have Diamond-Blackfan anaemiaAkie Kobayashi, Ryusei Ohtaka, Tsutomu Toki, et al.
American Journal of Hematology|October 26, 2018
Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiencyPaola Bianchi, Elisa Fermo, Bertil Glader, et al.
Blood|January 21, 2012
Extensive gene deletions in Japanese patients with Diamond-Blackfan anemiaMadoka Kuramitsu, Aiko Sato-Otsubo, Tomohiro Morio, et al.
Human Genome Variation|March 2, 2023
Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosisErina Nakahara, Keiko Shimojima Yamamoto, Hiromi Ogura, et al.
Experimental Hematology|March 17, 2019
KLF1 mutation E325K induces cell cycle arrest in erythroid cells differentiated from congenital dyserythropoietic anemia patient-specific induced pluripotent stem cellsHiroshi Kohara, Taiju Utsugisawa, Chika Sakamoto, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 20, 2017
Clinical utility of next-generation sequencing for inherited bone marrow failure syndromesHideki Muramatsu, Yusuke Okuno, Kenichi Yoshida, et al.
British Journal of Haematology|November 27, 2014
Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemiaRuNan Wang, Kenichi Yoshida, Tsutomu Toki, et al.
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