Associated Papers
Assessment of HIF2α mutational pathogenicity using microscale thermophoresis.
Ferens FG et al.
Biology Methods & Protocols, 2026
Diagnostic and prognostic genomic aberrations in upper tract urothelial carcinoma can be identified in focal barbotage samples.
Axelsson TA et al.
Bju International, 2025
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
Head and neck paraganglioma in Pacak-Zhuang syndrome.
Rosenblum JS et al.
Jnci Cancer Spectrum, 2025
Deficiency in PHD2-mediated hydroxylation of HIF2α underlies Pacak-Zhuang syndrome.
Ferens FG et al.
Communications Biology, 2024
Pacak-Zhuang syndrome: a model providing new insights into tumor syndromes.
Rosenblum JS et al.
Endocrine-related Cancer, 2023
Hypoxia-Inducible Factor-2-Altered Urothelial Carcinoma: Clinical and Genomic Features.
Vlachostergios PJ et al.
Current Oncology (toronto, Ont.), 2022
Single-nuclei and bulk-tissue gene-expression analysis of pheochromocytoma and paraganglioma links disease subtypes with tumor microenvironment.
Zethoven M et al.
Nature Communications, 2022
Somatic Mosaicism of EPAS1 Mutations in Pacak-Zhuang Syndrome.
Wang H et al.
Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 2022
Developmental vascular malformations in EPAS1 gain-of-function syndrome.
Rosenblum JS et al.
Jci Insight, 2021
Identification of Variants Associated With Rare Hematological Disorder Erythrocytosis Using Targeted Next-Generation Sequencing Analysis.
Kristan A et al.
Frontiers in Genetics, 2021
Neuraxial dysraphism in EPAS1-associated syndrome due to improper mesenchymal transition.
Rosenblum JS et al.
Neurology. Genetics, 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
Update on mutations in the HIF: EPO pathway and their role in erythrocytosis.
Lappin TR et al.
Blood Reviews, 2019
Chiari Malformation Type 1 in EPAS1-Associated Syndrome.
Rosenblum JS et al.
International Journal of Molecular Sciences, 2019
Nonmosaic somatic HIF2A mutations associated with late onset polycythemia-paraganglioma syndrome: Newly recognized subclass of polycythemia-paraganglioma syndrome.
Pang Y et al.
Cancer, 2019
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
New HIF2α inhibitors: potential implications as therapeutics for advanced pheochromocytomas and paragangliomas.
Toledo RA
Endocrine-related Cancer, 2017