Associated Papers
TANGO-2: A Rare Genetic Condition With Severe Clinical Presentation of Encephalopathy, Rhabdomyolysis, and Cardiac Rhythm Disorders in 2 Children.
Mukhtiar K et al.
Journal of Child Neurology, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Molecular insight into CREBBP and TANGO2 variants causing intellectual disability.
Hussain SI et al.
The Journal of Gene Medicine, 2024
TANGO2 Deficiency Disorder: Two Cases of Developmental Delay Preceding Metabolic Crisis.
Dias JV et al.
Pediatric Neurology, 2023
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
The TANGO2 disease and the therapeutic challenge of acute arrhythmia management: a case report.
Gomes SA et al.
European Heart Journal. Case Reports, 2023
Mitochondrial dysfunction associated with TANGO2 deficiency.
Heiman P et al.
Scientific Reports, 2022
Variable clinical severity in TANGO2 deficiency: Case series and literature review.
Schymick J et al.
American Journal of Medical Genetics. Part A, 2022
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
De La Vega FM et al.
Genome Medicine, 2021
Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU.
Sanford EF et al.
Pediatric Critical Care Medicine : a Journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies, 2019
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
Homozygous TANGO2 Single Nucleotide Variants Presenting with Additional Manifestations Resembling Alternating Hemiplegia of Childhood-Expanding the Phenotype of a Recently Reported Condition.
Sen K et al.
Neuropediatrics, 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
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
Lalani SR et al.
American Journal of Human Genetics, 2016