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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Last data update: May 18, 2024
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Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines.
Mavraki Eleni et al. European journal of human genetics : EJHG 2022
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Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.
Macken William L et al. Nature communications 2022 13(1) 6324
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Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon Katherine R et al. BMJ (Clinical research ed.) 2021 375e066288
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The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum.
Kose Melis et al. Journal of pediatric endocrinology & metabolism : JPEM 2021
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Safety of Intravitreal Gene Therapy for Treatment of Subjects with Leber Hereditary Optic Neuropathy due to Mutations in the Mitochondrial ND4 Gene: The REVEAL Study.
Vignal-Clermont Catherine et al. BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy 2021 Feb
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Genetics of mitochondrial diseases: Identifying mutations to help diagnosis.
Stenton Sarah L et al. EBioMedicine 2020 May 56102784
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Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease.
Shen Lishuang et al. Clinics in laboratory medicine 2020 Jun 40(2) 149-161
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Resolving complexity in mitochondrial disease: Towards precision medicine.
Boggan Róisín M et al. Molecular genetics and metabolism 128(1-2) 19-29
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The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.
Riley Lisa G et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Apr
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Mitochondrial disease in children.
Rahman Shamima et al. Journal of internal medicine 2020 Mar
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Strategies for fighting mitochondrial diseases.
Viscomi Carlo et al. Journal of internal medicine 2020 Feb
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Diagnostic and clinical utility of whole genome sequencing in a cohort of undiagnosed Chinese families with rare diseases.
Liu Hong-Yan et al. Scientific reports 2019 Dec 9(1) 19365
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What the Cardiologist Should Know About Mitochondrial Cardiomyopathy?
St-Pierre Guillaume et al. The Canadian journal of cardiology 2019 35(2) 221-224
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Individual dietary intervention in adult patients with mitochondrial disease due to the m.3243 A>G mutation.
Zweers Heidi et al. Nutrition (Burbank, Los Angeles County, Calif.) 2019 Jul 69110544
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When You Don?t Know, You Feel Alone in the World? The odyssey of the undiagnosed.
DE Bechard, Stanford Magazine, Summer 2019
Mitochondrial disease genetics update: recent insights into the molecular diagnosis and expanding phenotype of primary mitochondrial disease.
McCormick Elizabeth M et al. Current opinion in pediatrics 2018 30(6) 714-724
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Mitochondrial DNA mutation analysis from exome sequencing - a more holistic approach in diagnostics of suspected mitochondrial disease.
Wagner Matias et al. Journal of inherited metabolic disease 2019 May
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Electron Microscopy Can Still Have a Role in the Diagnosis of Selected Inborn Errors of Metabolism.
Taweevisit Mana et al. Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 22(1) 22-29
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Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based method.
Abicht Angela et al. Molecular genetics & genomic medicine 2018 6(6) 1188-1198
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Diagnosis of 'possible' mitochondrial disease: an existential crisis.
Parikh Sumit et al. Journal of medical genetics 2019 Jan
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The Usefulness of Muscle Biopsy in Initial Diagnostic Evaluation of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes.
Baek Min Seong et al. Yonsei medical journal 2019 Jan 60(1) 98-105
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Overcoming bioethical, legal, and hereditary barriers to mitochondrial replacement therapy in the USA.
Pompei Marybeth et al. Journal of assisted reproduction and genetics 2018 Dec
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Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia.
Puusepp Sanna et al. Molecular genetics and metabolism reports 2018 Jun 1580-89
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Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.
Nambot S et al. Clinical genetics 2017 Aug 92(2) 188-198
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Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases.
Plutino Morgane et al. BMC medical genetics 2018 Apr 19(1) 57
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Mitochondrial diseases.
Davis Ryan L et al. Handbook of clinical neurology 2018 147125-141
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New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
Pronicka Ewa et al. Journal of translational medicine 2016 Jun 14(1) 174
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International Consensus Statement on the Clinical and Therapeutic Management of Leber's Hereditary Optic Neuropathy.
Carelli Valerio et al. Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2017 Oct
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Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.
Parikh Sumit et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jul
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Novel reproductive technologies to prevent mitochondrial disease.
Craven Lyndsey et al. Human reproduction update 2017 Jun 1-19
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 18, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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