Thierry Frebourg

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A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations.

Jean-François Deleuze, Gaël Nicolas, Anne Boland, 2019, Clinical chemistry.

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Thierry Frebourg, Hubert Freyburger, 2005 .

[The revolution of the new generation sequencing].

Thierry Frebourg, 2012, Annales de pathologie.

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

Rodney J Scott, John-Paul Plazzer, Finlay Macrae, 2013, Nature Genetics.

Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma

Gudrun Schleiermacher, Isabelle Janoueix-Lerosey, Olivier Delattre, 2008, Nature.

Genetic Association Studies of Suicidal Behavior: A Review of the Past 10 Years, Progress, Limitations, and Future Directions

David Cohen, Thierry Frebourg, Claudine Laurent, 2016, Front. Psychiatry.

The Challenge for the Next Generation of Medical Geneticists

Thierry Frebourg, T. Frebourg, 2014, Human mutation.

Rapid detection of novel BRCA1 rearrangements in high‐risk breast‐ovarian cancer families using multiplex PCR of short fluorescent fragments

Dominique Stoppa-Lyonnet, Thierry Frebourg, D. Stoppa-Lyonnet, 2002, Human mutation.

OutLyzer: software for extracting low-allele-frequency tumor mutations from sequencing background noise in clinical practice

Dominique Vaur, Sophie Krieger, Baptiste Brault, 2016, Oncotarget.

Phenotype associated with APP duplication in five families.

Florence Pasquier, Didier Hannequin, Thierry Frebourg, 2006, Brain : a journal of neurology.

A risk for early-onset Alzheimer's disease associated with the APBB1 gene (FE65) intron 13 polymorphism

Jean-François Deleuze, Bruno Dubois, Didier Hannequin, 2003, Neuroscience Letters.

Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions

Predrag Radivojac, Biao Li, Alun Thomas, 2013, Human mutation.