Associated Papers
Experimental Mis-Splicing Assessment and ACMG/AMP-Guided Classification of 47 ATM Splice-Site Variants.
Llinares-Burguet I et al.
International Journal of Molecular Sciences, 2026
Complex Relationships Between Homologous Recombination Deficiency (HRD) Score and Mutational Status of Homologous Recombination Repair (HRR) Genes in Prostate Carcinomas.
Iyevleva AG et al.
International Journal of Molecular Sciences, 2025
41465280 (PubMed )
Supplement: ijms-26-11851-s001.zip › Supplementary_Table_1.xlsx › Supplementary_table_S1
Prevalence and Associations of Co-occurrence of NFE2L2 Mutations and Chromosome 3q26 Amplification in Lung Cancer.
Liu J et al.
Global Medical Genetics, 2024
38628662 (PubMed )
Supplement: 10-1055-s-0044-1786004-s2400018.pdf
Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.
Moeini Shad T et al.
Frontiers in Immunology, 2021
35095854 (PubMed )
Supplement: DataSheet_1.pdf
Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.
Schon K et al.
Annals of Neurology, 2019
30549301 (PubMed )
Supplement: ANA-85-170-s001.pdf
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.
Momozawa Y et al.
Nature Communications, 2018
30287823 (PubMed )
Supplement: 41467_2018_6581_MOESM4_ESM.xlsx › SD1
Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity.
Driessen GJ et al.
The Journal of Allergy and Clinical Immunology, 2013
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.
Verhagen MM et al.
Human Mutation, 2012
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