Ploidy and Large-Scale Genomic Instability Consistently Identify Basal-like Breast Carcinomas with <i>BRCA1/2</i> Inactivation

Tatiana Popova, Élodie Manié, Guillaume Rieunier, +12

Cancer Research

The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia

Aurélie Méneret, Yara Ahmar-Beaugendre, Guillaume Rieunier, +17

Neurology

Nuclear IGF1R Interacts with Regulatory Regions of Chromatin to Promote RNA Polymerase II Recruitment and Gene Expression Associated with Advanced Tumor Stage

Tamara Aleksic, Nicki Gray, Xiaoning Wu, +15

Cancer Research

Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations

Virginie Jacquemin, Guillaume Rieunier, Sandrine Jacob, +5

European Journal of Human Genetics

Mendelian DisorderGenetic DisorderMedicineGeneticsGenetic Epidemiology +4

Functional classification of <i>ATM</i> variants in ataxia‐telangiectasia patients

Alice Fiévet, Dorine Bellanger, Guillaume Rieunier, +43

Human Mutation

Progressive AtaxiaAutoimmune DiseaseGenetic DisorderMedicineGenetics +13

Increased EZH2 expression in prostate cancer is associated with metastatic recurrence following external beam radiotherapy

Xiaoning Wu, Helen E. Scott, Sigrid Carlsson, +13

The Prostate

Mutation in <i>TTI2</i> Reveals a Role for Triple T Complex in Human Brain Development

Maéva Langouët, Abdelkrim Saadi, Guillaume Rieunier, +8

Human Mutation

Developmental Cognitive NeuroscienceBrain DevelopmentGeneticsGenetic EpidemiologyGenomic Mechanism +21

Type 1 IGF receptor associates with adverse outcome and cellular radioresistance in paediatric high-grade glioma

Aaron D. Simpson, Ying Wei Jenetta Soo, Guillaume Rieunier, +4

British Journal of Cancer

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

Alice Fiévet, Dorine Bellanger, Stéphanie Valence, +12

Human Mutation

S‐phase Checkpoint DefectGeneticsPathologyMolecular BiologyMolecular Genetics +14

DNA repair functional analyses of NBN hypomorphic variants associated with NBN‐related infertility

Alice Fiévet, Dorine Bellanger, Laïla Zahed, +9

Human Mutation