C. Garrec

发表

Performance of multiplicom's BRCA MASTR Dx kit on the detection of BRCA1 and BRCA2 mutations in fresh frozen ovarian and breast tumor samples

G. Ellison, E. Capoluongo, S. Bézieau, 2016, Oncotarget.

High HFE mutation incidence in idiopathic erythrocytosis

F. Girodon, B. Aral, S. Bézieau, 2018, British journal of haematology.

A de novo pathogenic variant in the MSH6 gene in a 52 years-old woman

S. Bézieau, C. Abadie, O. Kerdraon, 2021, Familial Cancer.

Absence of CALR Mutations in Idiopathic Erythrocytosis Patients with Low Serum Erythropoietin Levels

F. Girodon, N. Cross, M. McMullin, 2018, Acta Haematologica.

Unexpected frequency of Upshaw-Schulman syndrome in pregnancy-onset thrombotic thrombocytopenic purpura.

É. Azoulay, L. Galicier, S. Bézieau, 2012, Blood.

ADAMTS13 Gene Mutations Influence ADAMTS13 Conformation and Disease Age-Onset in the French Cohort of Upshaw–Schulman Syndrome

J. Hogan, P. Coppo, F. Provôt, 2018, Thrombosis and Haemostasis.

Diagnosis of exon 12‐positive polycythemia vera rescued by NGS

F. Girodon, B. Aral, S. Bézieau, 2020, Clinical case reports.

Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.

F. Révillion, R. Lidereau, N. Sevenet, 2021, American journal of human genetics.

New lessons from an old gene: complex splicing and a novel cryptic exon in VHL gene cause erythrocytosis and VHL disease Complex genetics in VHL disease and erythrocytosis

R. Redon, K. Schwarz, S. Knight, 2018 .

TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing

J. Lemonnier, N. Sevenet, D. Stoppa-Lyonnet, 2021, Cancers.

Low incidence of EPOR mutations in idiopathic erythrocytosis

E. Lippert, F. Girodon, A. Thiébaut, 2020, Haematologica.

BRCA Share: A Collection of Clinical BRCA Gene Variants

Christophe Béroud, Dominique Vaur, Izabela Karbassi, 2016, Human mutation.

Increased incidence of germline PIEZO1 mutations in individuals with idiopathic erythrocytosis.

G. Bouyer, L. D. Da Costa, F. Girodon, 2020, Blood.

Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.

R. Redon, K. Schwarz, S. Knight, 2018, Blood.

Evaluation of the colorectal cancer risk conferred by rare UNC5C alleles.

S. Küry, D. Bonneau, Shuo Jiao, 2014, World journal of gastroenterology.

Gene panel sequencing in idiopathic erythrocytosis

F. Girodon, S. Bézieau, B. Gardie, 2017, Haematologica.

Sensitive detection methods are key to identify secondary EGFR c.2369C>T p.(Thr790Met) in non-small cell lung cancer tissue samples

A. Marchetti, L. Bubendorf, E. Schuuring, 2020, BMC Cancer.

Germline JAK2 E846D Substitution as the Cause of Erythrocytosis?

F. Girodon, B. Aral, S. Bézieau, 2023, Genes.

Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis

F. Girodon, H. Cario, A. Gimenez-Roqueplo, 2022, Haematologica.

Deep Learning for Detecting BRCA Mutations in High-Grade Ovarian Cancer based on an Innovative Tumor Segmentation Method from Whole-Slide Images.

A. Lespagnol, T. Pécot, J. Mosnier, 2023, Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc.

Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis

T. Haferlach, N. Casadevall, F. Girodon, 2023, Haematologica.

Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.

R. Redon, K. Schwarz, S. Knight, 2018, Blood.