Last Posted: Oct 02, 2021
- 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
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
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