Clinical variability in ataxia–telangiectasia

Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer

Shaun P. Scott, Regina Bendix, Philip Chen et al. · Proceedings of the National Academy of Sciences · 2002 · 224 citations · Full text

Atm Gene, Dominant Interference, Genome Instability +14

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study

Mijke M.M. Verhagen, James I. Last, Frans B.L. Hogervorst et al. · Human Mutation · 2011 · 166 citations

Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype

Romain Micol, Lilia Ben Slama, Felipe Suárez et al. · Journal of Allergy and Clinical Immunology · 2011 · 156 citations

Disease Etiology, Genetic Disorder, Genetic Epidemiology +8

Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites

Rachel Saunders‐Pullman, Deborah Raymond, A. Jon Stoessl et al. · Neurology · 2012 · 92 citations · Full text

The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia

Aurélie Méneret, Yara Ahmar-Beaugendre, Guillaume Rieunier et al. · Neurology · 2014 · 76 citations