Catherine Dubois d’Enghien

Incidence, Presentation, and Prognosis of Malignancies in Ataxia-Telangiectasia: A Report From the French National Registry of Primary Immune Deficiencies

Felipe Suárez, Nizar Mahlaoui, Danielle Canioni et al. · Journal of Clinical Oncology · 2014 · 251 citations · Full text

Medicine, Hematology, Oncology +17

Myelodysplasia and leukemia of Fanconi anemia are associated with a specific pattern of genomic abnormalities that includes cryptic RUNX1/AML1 lesions

Samuel Quentin, Wendy Cuccuini, Raphaël Ceccaldi et al. · Blood · 2011 · 182 citations · Full text

Medicine, Genetics, Molecular Genetics +17

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 · 162 citations

Life Sciences, Genetics, Neurology +12

Evaluation of in silico splice tools for decision-making in molecular diagnosis

Claude Houdayer, Catherine Dehainault, Christophe Mattler et al. · Human Mutation · 2008 · 161 citations

Life Sciences, Bioinformatics, Genetics +17

Biallelic inactivation of REV7 is associated with Fanconi anemia

Dominique Bluteau, Julien Masliah-Planchon, Connor S. Clairmont et al. · Journal of Clinical Investigation · 2016 · 130 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16