Associated Papers
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
A Novel Human SDHA-Knockout Cell Line Model for the Functional Analysis of Clinically Relevant SDHA Variants.
Kent JD et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
Advancing Precision Oncology in Hereditary Paraganglioma-Pheochromocytoma Syndromes: Integrated Interpretation and Data Sharing of the Germline and Tumor Genomes.
Rana HQ et al.
Cancers, 2024
Assembly of mitochondrial succinate dehydrogenase in human health and disease.
Cao K et al.
Free Radical Biology & Medicine, 2023
Structure of the human respiratory complex II.
Du Z et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Variant curation and interpretation in hereditary cancer genes: An institutional experience in Latin America.
Manotas MC et al.
Molecular Genetics & Genomic Medicine, 2023
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.
Sturrock BRH et al.
Molecular Genetics & Genomic Medicine, 2021
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan J et al.
Ebiomedicine, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Interaction of germline variants in a family with a history of early-onset clear cell renal cell carcinoma.
Nicolas E et al.
Molecular Genetics & Genomic Medicine, 2019
Retrospective genotype-phenotype analysis in a 305 patient cohort referred for testing of a targeted epilepsy panel.
Hesse AN et al.
Epilepsy Research, 2018
Biochemical, Molecular, and Clinical Characterization of Succinate Dehydrogenase Subunit A Variants of Unknown Significance.
Bannon AE et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017
SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.
Casey RT et al.
Molecular Genetics & Genomic Medicine, 2017
The role of complex II in disease.
Hoekstra AS et al.
Biochimica Et Biophysica Acta, 2013
Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.
Alston CL et al.
Journal of Medical Genetics, 2012
The genetic basis of isolated mitochondrial complex II deficiency.
Fullerton M et al.
Molecular Genetics and Metabolism, 0