Research map: Genetic tests used in modern diagnosis of inborn errors of immunity and hematological diseases

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  1. DNA sequencing with chain-terminating inhibitors · Frederick Sanger · 1977 · 69500 citations · Cited by this paper
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  17. Primary Immunodeficiency Diseases Worldwide: More Common than Generally Thought · Ahmed Aziz Bousfiha · 2012 · 323 citations · Cited by this paper
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  24. Rare disease emerging as a global public health priority · Claudia Ching Yan Chung · 2022 · 177 citations · Cited by this paper
  25. Incidence and Temporal Trends of Primary Immunodeficiency: A Population-Based Cohort Study · Avni Y. Joshi · 2009 · 164 citations · Cited by this paper
  26. Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome · Kennichi Dowdell · 2010 · 159 citations · Cited by this paper
  27. The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions · Christopher C. Dvorak · 2022 · 133 citations · Cited by this paper
  28. Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D · Marie Meeths · 2011 · 126 citations · Cited by this paper
  29. Applications of Single-Cell DNA Sequencing · Gilad D. Evrony · 2021 · 126 citations · Cited by this paper
  30. Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology · Ivan Kingyue Chinn · 2019 · 104 citations · Cited by this paper
  31. Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options – a Retrospective Analysis · on behalf of the Inborn Errors Working Party of the Society for European Blood and Marrow Transplantation and the European Society for Immune Deficiencies · 2015 · 97 citations · Cited by this paper
  32. Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2) · Simone Schuffenhauer · 1998 · 90 citations · Cited by this paper
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  37. Application of Fluorescence In Situ Hybridization (FISH) Technique for the Detection of Genetic Aberration in Medical Science · Zubair Ahmed Ratan · 2017 · 69 citations · Cited by this paper
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