A Model for ATM Heterozygote Identification in a Large Population: Four Founder-Effect ATM Mutations Identify Most of Costa Rican Patients with Ataxia Telangiectasia

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

Masato Orita, Hiroyuki Iwahana, Hiroshi Kanazawa et al. · Proceedings of the National Academy of Sciences · 1989 · 3.6K citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

A Single Ataxia Telangiectasia Gene with a Product Similar to PI-3 Kinase

Kinneret Savitsky, Anat Bar‐Shira, Shlomit Gilad et al. · Science · 1995 · 2.8K citations

Life Sciences, Genetics, Molecular Genetics +11

Atm-Deficient Mice: A Paradigm of Ataxia Telangiectasia

Carrolee Barlow, Shinji Hirotsune, Richard Paylor et al. · Cell · 1996 · 1.5K citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Incidence of Cancer in 161 Families Affected by Ataxia–Telangiectasia

Michael Swift, Daphne Morrell, Ruby B. Massey et al. · New England Journal of Medicine · 1991 · 947 citations · Full text

Life Sciences, Genetics, Oncology +14

Targeted disruption of ATM leads to growth retardation, chromosomal fragmentation during meiosis, immune defects, and thymic lymphoma.

Yang Xu, Terry Ashley, E E Brainerd et al. · Genes & Development · 1996 · 838 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15