Late-Onset Combined Immunodeficiency with a Novel IL2RG Mutation and Probable Revertant Somatic Mosaicism

Frequent pathway mutations of splicing machinery in myelodysplasia

Kenichi Yoshida, Masashi Sanada, Yuichi Shiraishi et al. · Nature · 2011 · 2K citations

Genetics, Molecular Genetics, Frequent Pathway Mutations +4

Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States

Antonia Kwan, Roshini S. Abraham, Robert J. Currier et al. · JAMA · 2014 · 657 citations

Crystal structure of the IL-2 signaling complex: Paradigm for a heterotrimeric cytokine receptor

Deborah J. Stauber, Erik Debler, Patricia A. Horton et al. · Proceedings of the National Academy of Sciences · 2006 · 275 citations · Full text

Atypical X-Linked Severe Combined Immunodeficiency Due to Possible Spontaneous Reversion of the Genetic Defect in T Cells

Volker Stephan, V. Wahn, Françoise Le Deist et al. · New England Journal of Medicine · 1996 · 271 citations

Clinical Immunology, Immunohematology, Immunodeficiencies +28

ACTN1 Mutations Cause Congenital Macrothrombocytopenia

Shinji Kunishima, Yusuke Okuno, Kenichi Yoshida et al. · The American Journal of Human Genetics · 2013 · 202 citations · Full text

Genetic Disorder, Hematology, Pathology +4