Associated Papers
ACMG-Recommended Actionable Secondary Findings from 1600 Clinical Exomes in the South Marmara Region in Turkiye.
Temel SG et al.
International Journal of Molecular Sciences, 2026
Functional Characterization of SDHB Variants Clarifies Hereditary Pheochromocytoma and Paraganglioma Risk and Genotype-Phenotype Relationships.
Lee S et al.
The Journal of Clinical Investigation, 2025
In-silico identification and functional analysis of high-risk oncogenic nsSNPs in the human SDHB gene and their implications for cancer susceptibility.
Siddiqui AJ et al.
3 Biotech, 2025
Specification of frequency criteria for secondary findings genes to improve variant classification concordance.
Johnston JJ et al.
Biorxiv : the Preprint Server for Biology, 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
High Succinate peak in Magnetic Resonance Spectroscopy: A Diagnostic Clue for the Leukoencephalopathy Result from Succinate Dehydrogenase Deficiencies.
Koc Ucar H et al.
Iranian Journal of Child Neurology, 2025
Multi-Gene Panel Testing for Hereditary Cancer Predisposition Among Patients Sixty-Five Years and Above Diagnosed With Breast Cancer.
Abdel-Razeq H et al.
World Journal of Oncology, 2024
A comprehensive study of mutation and phenotypic heterogeneity of childhood mitochondrial leukodystrophies.
Hosseinpour S et al.
Brain & Development, 2024
High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry.
Ashrafi M et al.
Neurogenetics, 2023
Interplay of Mendelian and polygenic risk factors in Arab breast cancer patients.
Al-Jumaan M et al.
Genome Medicine, 2023
258th ENMC international workshop Leigh syndrome spectrum: genetic causes, natural history and preparing for clinical trials 25-27 March 2022, Hoofddorp, Amsterdam, The Netherlands.
Diodato D et al.
Neuromuscular Disorders : Nmd, 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
Mitochondrial protein dysfunction in pathogenesis of neurological diseases.
Wang L et al.
Frontiers in Molecular Neuroscience, 2022
Actionable genomic variants in 6045 participants from the Qatar Genome Program.
Elfatih A et al.
Human Mutation, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Novel variant p.(Ala102Thr) in SDHB causes mitochondrial complex II deficiency: Case report and review of the literature.
Kaur P et al.
Annals of Human Genetics, 2020
Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.
Mukherjee S et al.
Mitochondrion, 2020
Succinate Dehydrogenase Deficiency: A Treatable Neurometabolic Disorder.
Karimzadeh P et al.
Iranian Journal of Child Neurology, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Homozygous TMEM127 mutations in 2 patients with bilateral pheochromocytomas.
Eijkelenkamp K et al.
Clinical Genetics, 2018
Iron-sulfur cluster biosynthesis and trafficking - impact on human disease conditions.
Wachnowsky C et al.
Metallomics : Integrated Biometal Science, 2018
Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling.
Grønborg S et al.
Jimd Reports, 2017
New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.
Legati A et al.
Biochimica Et Biophysica Acta, 2016
Whole exome sequencing in patients with white matter abnormalities.
Vanderver A et al.
Annals of Neurology, 2016
Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance.
Ardissone A et al.
Molecular Genetics and Metabolism Reports, 2015
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