- A germline chromothripsis event stably segregating in 11 individuals through three generations.
- A new ataxia-telangiectasia mutation in an 11-year-old female.
- Ataxia telangiectasia: why should the ERS care?
- Ataxia-telangiectasia: recommendations for multidisciplinary treatment.
- Causative mechanisms and clinical impact of immunoglobulin deficiencies in ataxia telangiectasia
- Chromosome instability syndromes.
- Genomic profiling of Acute lymphoblastic leukemia in ataxia telangiectasia patients reveals tight link between ATM mutations and chromothripsis.
- Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations.
- Genotype, extrapyramidal features and severity of variant Ataxia-Telangiectasia.
- Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline.
- Inactive Atm abrogates DSB repair in mouse cerebellum more than does Atm loss, without causing a neurological phenotype.
- Nicotinamide Riboside Improves Ataxia Scores and Immunoglobulin Levels in Ataxia Telangiectasia
- Recognition of genetic predisposition in pediatric cancer patients: An easy-to-use selection tool
- Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.
- Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia
- Telangiectasias in Ataxia Telangiectasia: Clinical significance, role of ATM deficiency and potential pathophysiological mechanisms.
- Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia.
- Treatment of acute leukemia in children with ataxia telangiectasia (A-T).
- Twan Foundation
