Ohsumi, Toshiro K.

Top Publications

Top Publications Authored or Co-Authored by "Ohsumi, Toshiro K."

• A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency

  Nature Genetics, Volume 48, No. 1, Year 2015, Citations 173
• Inherited DOCK2 deficiency in patients with early-onset invasive infections

  New England Journal of Medicine, Volume 372, No. 25, Year 2015, Citations 156
• Sensitive, specific polymorphism discovery in bacteria using massively parallel sequencing

  Nature Methods, Volume 6, No. 1, Year 2009, Citations 72
• Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity

  Journal of Clinical Investigation, Volume 126, No. 11, Year 2016, Citations 56
• A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency

  Journal of Allergy and Clinical Immunology, Volume 132, No. 1, Year 2013, Citations 19