Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 2026
Hidden splice variants in inborn errors of immunity: Uncovering diagnoses and therapeutic targets.
Ochoa S et al.
The Journal of Allergy and Clinical Immunology, 2025
Lets talk about ataxia-telangiectasia: Meeting report of the AT clinical research conference June 2025.
Coman D et al.
Dna Repair, 2025
PIK3CA Mutations and Co-Mutations in Operated Non-Small Cell Lung Carcinoma.
Cokpinar S et al.
Journal of Clinical Medicine, 2024
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
Practical Recommendations for the Selection of Patients for Individualized Splice-Switching ASO-Based Treatments.
Zardetto B et al.
Human Mutation, 2024
A framework for individualized splice-switching oligonucleotide therapy.
Kim J et al.
Nature, 2023
Breast Cancer Risk in Women from Ghana Carrying Rare Germline Pathogenic Mutations.
Ahearn TU et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2022
Targeting Alternative Splicing as a Potential Therapy for Episodic Ataxia Type 2.
Jaudon F et al.
Biomedicines, 2020
Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.
Yamamoto K et al.
Elife, 2016
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Arginine-rich cell-penetrating peptide dramatically enhances AMO-mediated ATM aberrant splicing correction and enables delivery to brain and cerebellum.
Du L et al.
Human Molecular Genetics, 2011
Current and potential therapeutic strategies for the treatment of ataxia-telangiectasia.
Lavin MF et al.
British Medical Bulletin, 2007
Exclusion/confirmation of ataxia-telangiectasia via cell-cycle testing.
Heinrich T et al.
European Journal of Pediatrics, 2006
Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengths.
Eng L et al.
Human Mutation, 2004
ATM mutations in sporadic lymphoid tumours.
Stankovic T et al.
Leukemia & Lymphoma, 2002
Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.
Teraoka SN et al.
American Journal of Human Genetics, 1999