Marine Guillaud-Bataille

Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas

Luis Jaime Castro‐Vega, Alexandre Buffet, Aguirre A. de Cubas et al. · Human Molecular Genetics · 2013 · 391 citations

Life Sciences, Genetics, Oncology +13

Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update

Anélia Horvath, Jérôme Bertherat, Lionel Groussin et al. · Human Mutation · 2010 · 173 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Frequent Phosphodiesterase 11A Gene (<i>PDE11A</i>) Defects in Patients with Carney Complex (CNC) Caused by<i>PRKAR1A</i>Mutations:<i>PDE11A</i>May Contribute to Adrenal and Testicular Tumors in CNC as a Modifier of the Phenotype

Rossella Libé, Anélia Horvath, Delphine Vezzosi et al. · The Journal of Clinical Endocrinology & Metabolism · 2010 · 116 citations · Full text

Medicine, Endocrinology, Genetics +16

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

Raphaël Leman, Pascaline Gaildrat, Gérald Le Gac et al. · Nucleic Acids Research · 2018 · 111 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

Pattern multiplicity and fumarate hydratase (FH)/S-(2-succino)-cysteine (2SC) staining but not eosinophilic nucleoli with perinucleolar halos differentiate hereditary leiomyomatosis and renal cell carcinoma-associated renal cell carcinomas from kidney tumors without FH gene alteration

Marie Müller, Marine Guillaud-Bataille, Julia Salleron et al. · Modern Pathology · 2018 · 103 citations · Full text

Medicine, Oncology, Pathology +17