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
About Rare Diseases PHGKB
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 01, 2023
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