Associated Papers
Clinicopathological and molecular features of so-called low-grade oncocytic fumarate hydratase-deficient renal cell carcinoma: a study of 5 cases.
Xie B et al.
Virchows Archiv : an International Journal of Pathology, 2025
Functional analysis of FH variants of uncertain significance using Caenorhabditis elegans model.
Ferris S et al.
Genetics in Medicine Open, 2025
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Haverfield EV et al.
Bmc Medicine, 2021
34404389 (PubMed )
Supplement: 12916_2021_1999_MOESM2_ESM.pdf
Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.
Popp B et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020
32612247 (PubMed )
Supplement: 41379_2020_596_MOESM2_ESM.xlsx › FH_BRAVO
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations
The functional landscape of the human phosphoproteome.
Ochoa D et al.
Nature Biotechnology, 2020
31819260 (PubMed )
Supplement: EMS84831-supplement-Table_S5.xlsx › clinvar_data
Bilateral ovarian steroid cell tumours and massive macronodular adrenocortical disease in a patient with hereditary leiomyomatosis and renal cell cancer syndrome.
Arora R et al.
Pathology, 2012
Structural basis of fumarate hydratase deficiency.
Picaud S et al.
Journal of Inherited Metabolic Disease, 2011
The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency.
Bayley JP et al.
Bmc Medical Genetics, 2008
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