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Last Posted: Nov 10, 2022

• Rare Germline ATM Variants Influence the Development of Chronic Lymphocytic Leukemia.
  Lampson Benjamin L et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2022 JCO2200269
• Newborn screening for severe combined immunodeficiency: The results of the first pilot TREC and KREC study in Ukraine with involving of 10,350 neonates.
  Boyarchuk Oksana et al. Frontiers in immunology 2022 13999664
• Genetics of ataxia telangiectasia in a highly consanguineous population.
  Al-Muhaizea Mohammed A et al. Annals of human genetics 2021
• Spectrum of Hematological Malignancies, Clonal Evolution and Outcomes in 144 Mayo Clinic Patients with Germline Predisposition Syndromes.
  St Martin Emma et al. American journal of hematology 2021
• DNA Damage-Induced Neurodegeneration in Accelerated Ageing and Alzheimer's Disease.
  Wang Heling et al. International journal of molecular sciences 2021 22(13)
• Germline pathogenic variants in the Ataxia Telangiectasia Mutated (ATM) gene are associated with high and moderate risks for multiple cancers.
  Hall Michael J et al. Cancer prevention research (Philadelphia, Pa.) 2021 Jan
• [Challenges of screening germline predispositions in children].
  Manabe Atsushi et al. [Rinsho ketsueki] The Japanese journal of clinical hematology 2020 61(6) 682-686
• Hereditary Predisposition to Hematopoietic Neoplasms: When Bloodline Matters for Blood Cancers.
  Mangaonkar Abhishek A et al. Mayo Clinic proceedings 2020 Jun
• Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years' Experience.
  Mandola Amarilla B et al. Frontiers in immunology 2019 102940
• Dilemma of Reporting Incidental Findings in Newborn Screening Programs for SCID: Parents' Perspective on Ataxia Telangiectasia.
  Blom Maartje et al. Frontiers in immunology 2019 102438
• Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents' perspective.
  Schoenaker M H D et al. European journal of pediatrics 2019 Nov
• Chromosome instability syndromes.
  Taylor A Malcolm R et al. Nature reviews. Disease primers 2019 Sep 5(1) 64
• Association of Tumor Protein p53 and Ataxia-Telangiectasia Mutated Comutation With Response to Immune Checkpoint Inhibitors and Mortality in Patients With Non–Small Cell Lung Cancer
  Y Chen et al, JAMA Network Open, September 20, 2019
• Association of Tumor Protein p53 and Ataxia-Telangiectasia Mutated Comutation With Response to Immune Checkpoint Inhibitors and Mortality in Patients With Non-Small Cell Lung Cancer.
  Chen Yu, et al. JAMA network open 2019 9 0. (9) e1911895
• Current Approaches to Pancreatic Cancer Screening.
  Chhoda Ankit et al. The American journal of pathology 2019 Jan 189(1) 22-35
• Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders.
  Kashimada Ayako et al. Brain & development 2018 Oct
• CLINGEN Actionability Report for Breast Cancer - ATM, CHEK2
  ClinGen Actionability Working Group
• Newborn screening using TREC/KREC assay for severe T and B cell lymphopenia in Iran.
  Nourizadeh Maryam et al. Scandinavian journal of immunology 2018 Jun e12699
• Ataxia-telangiectasia gene ( ATM ) mutation heterozygosity in breast cancer: a narrative review.
  Jerzak K J et al. Current oncology (Toronto, Ont.) 2018 Apr 25(2) e176-e180
• Genetic testing for hereditary prostate cancer: Current status and limitations.
  Zhen Jun Tu et al. Cancer 2018 Apr

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