Associated Papers
Elucidating loss-of-function mechanisms of monoallelic EPAS1 mutations underlying congenital hypoplastic anaemia in a paediatric anaemia cohort.
Zhang J et al.
British Journal of Haematology, 2025
Real-World Impact of Deep Targeted Sequencing on Erythrocytosis and Thrombocytosis Diagnosis: A Reference Centre Experience.
Blanco-Sánchez A et al.
Cancers, 2024
Idiopathic erythrocytosis: a germline disease?
Elli EM et al.
Clinical and Experimental Medicine, 2024
Coexistence of Multiple Gene Variants in Some Patients with Erythrocytoses.
Benetti A et al.
Mediterranean Journal of Hematology and Infectious Diseases, 2024
Real-world performance analysis of a novel computational method in the precision oncology of pediatric tumors.
Vodicska B et al.
World Journal of Pediatrics : Wjp, 2023
Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis.
Karaghiannis V et al.
Haematologica, 2023
The connection between tricarboxylic acid cycle enzyme mutations and pseudohypoxic signaling in pheochromocytoma and paraganglioma.
Wang Y et al.
Frontiers in Endocrinology, 2023
Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.
D'Agostino Y et al.
Diagnostics (basel, Switzerland), 2022
Genomic characterization of lymphomas in patients with inborn errors of immunity.
Ye X et al.
Blood Advances, 2022
Hypoxia-inducible factor underlies von Hippel-Lindau disease stigmata.
Ohh M et al.
Elife, 2022
Erythrocytosis associated with EPAS1(HIF2A), EGLN1(PHD2), VHL, EPOR or BPGM mutations: The Mayo Clinic experience.
Gangat N et al.
Haematologica, 2022
Hypoxia-inducible Factor 2α: A Key Player in Tumorigenesis and Metastasis of Pheochromocytoma and Paraganglioma?
Bechmann N et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2022
Integration and Visualization of Regulatory Elements and Variations of the EPAS1 Gene in Human.
Kristan A et al.
Genes, 2021
The Mutational Landscape of Acute Myeloid Leukaemia Predicts Responses and Outcomes in Elderly Patients from the PETHEMA-FLUGAZA Phase 3 Clinical Trial.
Ayala R et al.
Cancers, 2021
Multiomics Characterization of Low-Grade Serous Ovarian Carcinoma Identifies Potential Biomarkers of MEK Inhibitor Sensitivity and Therapeutic Vulnerability.
Shrestha R et al.
Cancer Research, 2021
Functional significance of germline EPAS1 variants.
Dwight T et al.
Endocrine-related Cancer, 2021
Identification of Novel Mutations and Expressions of EPAS1 in Phaeochromocytomas and Paragangliomas.
Islam F et al.
Genes, 2020
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
A novel germline gain-of-function HIF2A mutation in hepatocellular carcinoma with polycythemia.
Yu J et al.
Aging, 2020
Genetic variability of hypoxia-inducible factor alpha (HIFA) genes in familial erythrocytosis: Analysis of the literature and genome databases.
Kristan A et al.
European Journal of Haematology, 2019
Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.
Glentis S et al.
Frontiers in Genetics, 2019
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S et al.
Cold Spring Harbor Molecular Case Studies, 2018
HIF-2α-pVHL complex reveals broad genotype-phenotype correlations in HIF-2α-driven disease.
Tarade D et al.
Nature Communications, 2018
Genotype-Phenotype Correlation of Hereditary Erythrocytosis Mutations, a single center experience.
Oliveira JL et al.
American Journal of Hematology, 2018
HIF2A germline-mutation-induced polycythemia in a patient with VHL-associated renal-cell carcinoma.
Liu Q et al.
Cancer Biology & Therapy, 2017
New HIF2α inhibitors: potential implications as therapeutics for advanced pheochromocytomas and paragangliomas.
Toledo RA
Endocrine-related Cancer, 2017
A Somatic HIF2α Mutation-Induced Multiple and Recurrent Pheochromocytoma/Paraganglioma with Polycythemia: Clinical Study with Literature Review.
Liu Q et al.
Endocrine Pathology, 2017
Somatic gain-of-function HIF2A mutations in sporadic central nervous system hemangioblastomas.
Taïeb D et al.
Journal of Neuro-oncology, 2016
Hypoxia Pathway Mutations in Pheochromocytomas and Paragangliomas.
Amorim-Pires D et al.
Cytogenetic and Genome Research, 2016
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
Frequent EPAS1/HIF2α exons 9 and 12 mutations in non-familial pheochromocytoma.
Welander J et al.
Endocrine-related Cancer, 2014
Hereditary erythrocytosis, thrombocytosis and neutrophilia.
Hong WJ et al.
Best Practice & Research. Clinical Haematology, 2014
Genetic basis of congenital erythrocytosis: mutation update and online databases.
Bento C et al.
Human Mutation, 2014
The role of PHD2 mutations in the pathogenesis of erythrocytosis.
Gardie B et al.
Hypoxia (auckland, N.z.), 2014
Congenital erythrocytosis associated with gain-of-function HIF2A gene mutations and erythropoietin levels in the normal range.
Perrotta S et al.
Haematologica, 2013
HIF2 and endocrine neoplasia: an evolving story.
Maher ER
Endocrine-related Cancer, 2013
First report of bilateral pheochromocytoma in the clinical spectrum of HIF2A-related polycythemia-paraganglioma syndrome.
Taïeb D et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma.
Lorenzo FR et al.
Journal of Molecular Medicine (berlin, Germany), 2013