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Human Molecular Genetics|December 17, 2013
Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomasLuis Jaime Castro-Vega, Alexandre Buffet, Aguirre A De Cubas, et al.Haematologica|January 26, 2023
Comprehensive <i>in silico</i> and functional studies for classification of <i>EPAS1/HIF2A</i> genetic variants identified in patients with erythrocytosisValéna Karaghiannis, Darko Maric, Céline Garrec, et al.Journal of Medical Genetics|January 31, 2020
Germline mutations in the new E1' cryptic exon of the <i>VHL</i> gene in patients with tumours of von Hippel-Lindau disease spectrum or with paragangliomaAlexandre Buffet, Bruna Calsina, Shahida Flores, et al.The Journal of Clinical Endocrinology and Metabolism|January 31, 2019
Positive Impact of Genetic Test on the Management and Outcome of Patients With Paraganglioma and/or PheochromocytomaAlexandre Buffet, Laurène Ben Aim, Sophie Leboulleux, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHDAlice Garrett, Chey Loveday, Laura King, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 17, 2018
Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patientsBruna Calsina, Maria Currás-Freixes, Alexandre Buffet, et al.Nature Reviews. Endocrinology|May 22, 2021
International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriersLaurence Amar, Karel Pacak, Olivier Steichen, et al.Blood|June 13, 2018
Identification of a new <i>VHL</i> exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau diseaseMarion Lenglet, Florence Robriquet, Klaus Schwarz, et al.Best Practice & Research. Clinical Endocrinology & Metabolism|September 1, 2024
MAML3-fusions modulate vascular and immune tumour microenvironment and confer high metastatic risk in pheochromocytoma and paragangliomaMaría Monteagudo, Bruna Calsina, Milton E Salazar-Hidalgo, et al.Cancer Discovery|April 8, 2025
Convergent Genetic Adaptation in Human Tumors Developed Under Systemic Hypoxia and in Populations Living at High AltitudesCarlota Arenillas, Lucía Celada, José Ruiz-Cantador, et al.Pageof 6