Catherine Dubois d’Enghien

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

F. Sigaux, J. Soulier, A. Baruchel, 2011, Blood.

Three new cases of ataxia‐telangiectasia‐like disorder: No impairment of the ATM pathway, but S‐phase checkpoint defect

M. Stern, A. Afenjar, D. Stoppa-Lyonnet, 2019, Human mutation.

Biallelic inactivation of REV7 is associated with Fanconi anemia.

J. Soulier, A. Baruchel, D. Bluteau, 2016, The Journal of clinical investigation.

Testicular Sertoli cell tumour and potentially testicular Leydig cell tumour are features of DICER1 syndrome

D. Stoppa-Lyonnet, D. Orbach, M. Miettinen, 2021, Journal of Medical Genetics.

The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia

M. Vidailhet, B. Gaymard, D. Grabli, 2014, Neurology.

Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: a report from the French national registry of primary immune deficiencies.

A. Fischer, J. Jais, N. Brousse, 2015, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

PROMIDIS&agr;: A T‐cell receptor &agr; signature associated with immunodeficiencies caused by V(D)J recombination defects

A. Fischer, C. Picard, É. Oksenhendler, 2019, The Journal of allergy and clinical immunology.

Mutiple DICER1‐related lesions associated with a germline deep intronic mutation

D. Stoppa-Lyonnet, C. Houdayer, C. Faure-Conter, 2018, Pediatric blood & cancer.

Spontaneous abrogation of the G₂DNA damage checkpoint has clinical benefits but promotes leukemogenesis in Fanconi anemia patients.

J. Soulier, Q. Waisfisz, D. Stoppa-Lyonnet, 2011, The Journal of clinical investigation.

Fertility defects revealing germline biallelic nonsense NBN mutations

D. Stoppa-Lyonnet, S. Christin‐Maitre, M. Portnoï, 2009, Human mutation.

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

N. Mahlaoui, J. Pedespan, B. Neven, 2011, The Journal of allergy and clinical immunology.