Associated Papers
Frequency and clinical features of germline pathogenic variants in sarcoma: a case-control study.
Rodriguez-Hernandez A et al.
Journal of the National Cancer Institute, 2026
Estimated global prevalence of genetic carriers of hereditary pheochromocytoma-paraganglioma syndrome in a large multiethnic genomic database.
Charoenngam N et al.
European Journal of Endocrinology, 2025
Genetic correlates of malignancy in TFE3-rearranged PEComa: a series of 14 cases.
Papke DJ et al.
Histopathology, 2025
FH Variant Pathogenicity Promotes Purine Salvage Pathway Dependence in Kidney Cancer.
Wilde BR et al.
Cancer Discovery, 2023
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
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
Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.
Cobain EF et al.
Jama Oncology, 2021
Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the Literature.
Peetsold M et al.
Journal of Child Neurology, 2021
Hereditary Leiomyomatosis and Renal Cell Cancer: Clinical, Molecular, and Screening Features in a Cohort of 185 Affected Individuals.
Forde C et al.
European Urology Oncology, 2020
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
TAPES: A tool for assessment and prioritisation in exome studies.
Xavier A et al.
Plos Computational Biology, 2019
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
Whitworth J et al.
American Journal of Human Genetics, 2018
Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet.
Ryder B et al.
Jimd Reports, 2018
Mild fumarase deficiency and a trial of low protein diet.
Kimonis VE et al.
Molecular Genetics and Metabolism, 2012
Detection of a novel FH whole gene deletion in the propositus leading to subsequent prenatal diagnosis in a sibship with fumarase deficiency.
Mroch AR et al.
American Journal of Medical Genetics. Part A, 2012
Fumaric aciduria: an overview and the first Brazilian case report.
Allegri G et al.
Journal of Inherited Metabolic Disease, 2010
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
Fumarase Deficiency and Its Effect on Infertility: A Case Series.
Schwartz JW et al.
Journal of Reproduction & Infertility, 0