Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39399040 (PubMed )
Supplement: media-1.xlsx › TableS2
Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia.
Raslan IR et al.
Neurology. Genetics, 2024
Compound heterozygous variants of THG1L result in autosomal recessive cerebellar ataxia.
Han R et al.
Journal of Human Genetics, 2023
Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish population.
Rabin R et al.
American Journal of Medical Genetics. Part A, 2021
Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study.
Almontashiri NAM et al.
Scientific Reports, 2020
32523032 (PubMed )
Supplement: 41598_2020_66401_MOESM4_ESM.xlsx › Table_S3
Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia.
Walker MA et al.
American Journal of Medical Genetics. Part A, 2019
A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay.
Edvardson S et al.
Neurogenetics, 2016
[Association study of Trp2 allele polymorphism with degenerative disc disease in a Chinese Han nationality].
Song HF et al.
Zhonghua Yi Xue Za Zhi, 2010
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