SDH Mutations Establish a Hypermethylator Phenotype in Paraganglioma

Éric Letouzé, Cosimo Martinelli, Céline Loriot, +15

Cancer Cell

Sdh Mutations EstablishTumor HeterogeneityPathologyCancer GeneticsMedicine +1

Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas

Luis Jaime Castro‐Vega, Alexandre Buffet, Aguirre A. de Cubas, +19

Human Molecular Genetics

Fh GeneTumor BiologySomatic VariantTumor HeterogeneityMedicine +11

Efficacy and safety of sparsentan versus irbesartan in patients with IgA nephropathy (PROTECT): 2-year results from a randomised, active-controlled, phase 3 trial

Brad H. Rovin, Jonathan Barratt, Hiddo J.L. Heerspink, +704

The Lancet

Sparsentan in patients with IgA nephropathy: a prespecified interim analysis from a randomised, double-blind, active-controlled clinical trial

Hiddo J.L. Heerspink, Jai Radhakrishnan, Charles E. Alpers, +724

The Lancet

GlomerulonephritisActive-controlled Clinical TrialRenal FunctionKidney FailureChronic Kidney Disease +7

Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas

Luis Jaime Castro‐Vega, Éric Letouzé, Nelly Burnichon, +19

Nature Communications

Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome

Éric Bieth, Sanaa Eddiry, Véronique Gaston, +10

European Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsPathogenesisPathology +8

Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma

Nelly Burnichon, Alexandre Buffet, Béatrice Parfait, +11

Human Molecular Genetics

Endocrine OncologyNf1 ExpressionSomatic VariantGliomaTumor Heterogeneity +12

Germline Mutations in the Mitochondrial 2-Oxoglutarate/Malate Carrier <i>SLC25A11</i> Gene Confer a Predisposition to Metastatic Paragangliomas

Alexandre Buffet, Aurélie Morin, Luis-Jaime Castro-Vega, +16

Cancer Research

Telomerase Activation and ATRX Mutations Are Independent Risk Factors for Metastatic Pheochromocytoma and Paraganglioma

Sylvie Job, Irena Drašković, Nelly Burnichon, +15

Clinical Cancer Research

Positive Impact of Genetic Test on the Management and Outcome of Patients With Paraganglioma and/or Pheochromocytoma

Alexandre Buffet, Laurène Ben Aim, Sophie Leboulleux, +30

The Journal of Clinical Endocrinology & Metabolism