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bone marrow diseases

  • Novel germline TP53 variant (p.(Phe109Ile)) confers high risk of cancer
    Anna Byrjalsen, Ulrik Kristoffer Stoltze, Charlotte Lautrup, Lise Lotte Christensen, Torben Mikkelsen, Lisa Hjalgrim, Jesper Sune Brok, Christine Dahl, Kjeld Schmiegelow, Lotte Borgwardt, Birgitte Rode Diness, Thomas Van Overeem Hansen, Karin A W Wadt
    Journal of Medical Genetics Nov 2024, 61 (11) 1023-1025; DOI: 10.1136/jmg-2024-110255
  • Congenital anaemia associated with loss-of-function variants in DNA polymerase epsilon 1
    Ichiro Takeuchi, Kanako Tanase-Nakao, Ayame Ogawa, Tohru Sugawara, Osuke Migita, Makoto Kashima, Touko Yamazaki, Akihiro Iguchi, Yasuhiro Naiki, Toru Uchiyama, Junya Tamaoki, Hiroki Maeda, Hirotaka Shimizu, Toshinao Kawai, Kosuke Taniguchi, Hiromi Hirata, Makoto Kobayashi, Kimikazu Matsumoto, Kiyoshi Naruse, Kenichiro Hata, Hidenori Akutsu, Takashi Kato, Satoshi Narumi, Katsuhiro Arai, Akira Ishiguro
    Journal of Medical Genetics Mar 2024, 61 (3) 239-243; DOI: 10.1136/jmg-2023-109444
  • Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysis
    Gaurav Joshi, Nancy Beryl Janet Arthur, Thenral S Geetha, Phaneendra Venkateswara Rao Datari, Kirti Modak, Debanjan Roy, Anurag Dutta Chaudhury, Prasanth Sundaraganesan, Sweety Priyanka, Fouzia NA, Vedam Ramprasad, Aby Abraham, Vivi M Srivastava, Alok Srivastava, Uday Prakash Kulkarni, Biju George, Shaji R Velayudhan
    Journal of Medical Genetics Aug 2023, 60 (8) 801-809; DOI: 10.1136/jmg-2022-108714