Tatjana Kilo

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

Pia Østergaard, Michael A. Simpson, Fiona Connell et al. · Nature Genetics · 2011 · 494 citations

Hematological Malignancy, Genetic Disorder, Mixed-phenotype Acute Leukemia +8

Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1

Yiran Guo, Melissa Kartawinata, Jiankang Li et al. · Blood · 2014 · 114 citations · Full text

York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1

Thomas C. Markello, Dong Chen, Justin Kwan et al. · Molecular Genetics and Metabolism · 2014 · 106 citations · Full text

York Platelet Syndrome, Mendelian Disorder, Blood Platelet +7

Persistent <scp>MRD</scp> before and after allogeneic <scp>BMT</scp> predicts relapse in children with acute lymphoblastic leukaemia

Rosemary Sutton, Peter J. Shaw, Nicola C. Venn et al. · British Journal of Haematology · 2014 · 74 citations

Telomere Length Measurement by Molecular Combing

Vivian Francília Silva Kahl, Joshua A. M. Allen, Christopher B. Nelson et al. · Frontiers in Cell and Developmental Biology · 2020 · 62 citations · Full text