Associated Papers
Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing.
Ball M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients.
Miyake CY et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Cardiac crises: Cardiac arrhythmias and cardiomyopathy during TANGO2 deficiency related metabolic crises.
Miyake CY et al.
Heart Rhythm, 2022
Variable clinical severity in TANGO2 deficiency: Case series and literature review.
Schymick J et al.
American Journal of Medical Genetics. Part A, 2022
Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.
Bérat CM et al.
Journal of Inherited Metabolic Disease, 2021
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM5_ESM.xlsx › Table_S4
TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism.
Jennions E et al.
Journal of Inherited Metabolic Disease, 2019
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.
Dines JN et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Increasing the sensitivity of clinical exome sequencing through improved filtration strategy.
Shamseldin HE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
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