Associated Papers
Genomic Profiling of Highly Aggressive Musculoskeletal Sarcomas Identifies Potential Therapeutic Targets: A Single-Center Experience.
Parra A et al.
Cancers, 2025
In vivo and in vitro analysis of functional effects of the SDHD H50R variant.
Priya S et al.
Endocrine-related Cancer, 2025
Design and validation of a clinical whole genome sequencing-based assay for patient screening in a large healthcare system.
Wagner JT et al.
Frontiers in Molecular Biosciences, 2025
Childhood Multiple Endocrine Neoplasia (MEN) Syndromes: Genetics, Clinical Heterogeneity and Modifying Genes.
Lanzaro F et al.
Journal of Clinical Medicine, 2024
Origins of Second Malignancies in Children and Mutational Footprint of Chemotherapy in Normal Tissues.
Sánchez-Guixé M et al.
Cancer Discovery, 2024
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.
Vanni I et al.
Journal of Translational Medicine, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Preferential MGMT hypermethylation in SDH-deficient wild-type GIST.
Giger OT et al.
Journal of Clinical Pathology, 2023
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
Renal neuroendocrine tumors: clinical and molecular pathology with an emphasis on frequent association with ectopic Cushing syndrome.
Kasajima A et al.
Virchows Archiv : an International Journal of Pathology, 2023
Variant curation and interpretation in hereditary cancer genes: An institutional experience in Latin America.
Manotas MC et al.
Molecular Genetics & Genomic Medicine, 2023
Whole-Exome Sequencing and cfDNA Analysis Uncover Genetic Determinants of Melanoma Therapy Response in a Real-World Setting.
Vanni I et al.
International Journal of Molecular Sciences, 2023
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
Large scale genotype- and phenotype-driven machine learning in Von Hippel-Lindau disease.
Chiorean A et al.
Human Mutation, 2022
Germline mutations in mitochondrial complex I reveal genetic and targetable vulnerability in IDH1-mutant acute myeloid leukaemia.
Bassal MA et al.
Nature Communications, 2022
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.
Garrett A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.
Yu H et al.
Frontiers in Oncology, 2022
Clinical and genetic characteristics in patients under 30 years with sporadic pituitary adenomas.
Martínez de LaPiscina I et al.
European Journal of Endocrinology, 2021
Analytical Performance of NGS-Based Molecular Genetic Tests Used in the Diagnostic Workflow of Pheochromocytoma/Paraganglioma.
Sarkadi B et al.
Cancers, 2021
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.
Wagener R et al.
European Journal of Human Genetics : Ejhg, 2021
The emerging clinical relevance of genomic profiling in neuroendocrine tumours.
Burak GI et al.
Bmc Cancer, 2021
Deleterious variants in genes regulating mammalian reproduction in Neanderthals, Denisovans and extant humans.
Greer C et al.
Human Reproduction (oxford, England), 2021
Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer.
Moradian MM et al.
Human Genome Variation, 2021
A rare case of aggressive, hereditary paraganglioma associated with a pathogenic variant in SDHD.
Kurzyńska A et al.
Endokrynologia Polska, 2021
Molecular characterization of CNS paragangliomas identifies cauda equina paragangliomas as a distinct tumor entity.
Schweizer L et al.
Acta Neuropathologica, 2020
A review of the tumour spectrum of germline succinate dehydrogenase gene mutations: Beyond phaeochromocytoma and paraganglioma.
MacFarlane J et al.
Clinical Endocrinology, 2020
Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome.
Theis JL et al.
Elife, 2020
A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.
García-Cárdenas JM et al.
Journal of Medical Case Reports, 2020
Succinate Dehydrogenase-Deficient Gastrointestinal Stromal Tumors.
Ibrahim A et al.
Archives of Pathology & Laboratory Medicine, 2020
Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.
Van Marcke C et al.
Breast Cancer Research : Bcr, 2020
PTEN in Hereditary and Sporadic Cancer.
Ngeow J et al.
Cold Spring Harbor Perspectives in Medicine, 2020
Mutational profile and genotype/phenotype correlation of non-familial pheochromocytoma and paraganglioma.
Albattal S et al.
Oncotarget, 2019
Toward automation of germline variant curation in clinical cancer genetics.
Ravichandran V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice.
Casey RT et al.
Scientific Reports, 2019
Molecular Profiling of Hard-to-Treat Childhood and Adolescent Cancers.
Khater F et al.
Jama Network Open, 2019
Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.
Richter S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
PTEN-opathies: from biological insights to evidence-based precision medicine.
Yehia L et al.
The Journal of Clinical Investigation, 2019
65 YEARS OF THE DOUBLE HELIX: One gene, many endocrine and metabolic syndromes: PTEN-opathies and precision medicine.
Yehia L et al.
Endocrine-related Cancer, 2018
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.
Andrews KA et al.
Journal of Medical Genetics, 2018
The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.
Muscat AM et al.
Oncotarget, 2018
Micrometastatic gastric glomus tumour confirmed by next-generation sequencing.
Davis J et al.
Histopathology, 2018
Adrenocortical carcinoma and succinate dehydrogenase gene mutations: an observational case series.
Else T et al.
European Journal of Endocrinology, 2017
Succinate dehydrogenase deficiency in a PDGFRA mutated GIST.
Belinsky MG et al.
Bmc Cancer, 2017