Florence Coulet

A Specific Methylation Class Identifies BAP1‐Deficient Meningiomas, Including Meningeal Tumours With Poorly Differentiated Nonrhabdoid Histology

Pulmonary vascular phenotype identified in patients with<i>GDF2</i>(<i>BMP9</i>) or<i>BMP10</i>variants: an international multicentre study

Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes

First estimates of diffuse gastric cancer risks for carriers of <i>CTNNA1</i> germline pathogenic variants

Standardisation of pathogenicity classification for somatic alterations in solid tumours and haematologic malignancies

Low-Coverage Whole Genome Sequencing of Cell-Free DNA From Immunosuppressed Cancer Patients Enables Tumor Fraction Determination and Reveals Relevant Copy Number Alterations

Mechanisms and therapeutic implications of hypermutation in gliomas

Association of Human iPSC Gene Signatures and X Chromosome Dosage with Two Distinct Cardiac Differentiation Trajectories

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

Widening the landscape of heritable pulmonary hypertension mutations in paediatric and adult cases

Genetic counselling in a national referral centre for pulmonary hypertension

Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents

Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants