Thierry Frébourg

Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.

Laurence Faivre, Claude Bendavid, Alice Goldenberg, 2009, Archives of general psychiatry.

Multiple sequence variants of BRCA2 exon 7 alter splicing regulation

Etienne Rouleau, Dominique Vaur, Sophie Krieger, 2012, Journal of Medical Genetics.

The MDM2 285G–309G haplotype is associated with an earlier age of tumour onset in patients with Li-Fraumeni syndrome

Stéphanie Baert-Desurmont, T. Frebourg, S. Vasseur, 2013, Familial Cancer.

Contribution of the BOP1 gene, located on 8q24, to colorectal tumorigenesis

T. Frebourg, F. Blanchard, F. Le Pessot, 2006, Genes, chromosomes & cancer.

2009 version of the Chompret criteria for Li Fraumeni syndrome.

Catherine Bonaïti-Pellié, Dominique Stoppa-Lyonnet, Stéphanie Baert-Desurmont, 2009, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes

Dominique Vaur, Sophie Krieger, Marie-Pierre Buisine, 2011, European Journal of Human Genetics.

Copy number variations in DCC/18q and ERBB2/17q are associated with disease‐free survival in microsatellite stable colon cancer

Pierre Michel, Côme Lepage, Ludivine Beaussire, 2017, International journal of cancer.

Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.

Laetitia Huiart, Dominique Leroux, Bernard Bonaïti, 2011, JAMA.

Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients

Alain Calender, Laurence Faivre, E. Babin, 2006, Human mutation.

A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease

Claire Paquet, Jérémie Pariente, Bernard Croisile, 2011, European Journal of Human Genetics.

Pitfalls in the use of DGV for CNV interpretation

Pascal Chambon, Richard Redon, Françoise Charbonnier, 2011, American journal of medical genetics. Part A.