Associated Papers
Clinical and molecular characterization of Krabbe disease in Iranian patients: case report and literature review.
Asgari P et al.
Bmc Neurology, 2026
Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort.
Bylstra Y et al.
European Journal of Human Genetics : Ejhg, 2026
Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.
Kim J et al.
Human Genomics, 2025
Genetic and Clinical Characteristics of Chinese Adult Patients With Krabbe Disease.
Zhang Y et al.
Cns Neuroscience & Therapeutics, 2025
Serum Proteomics Reveals Diagnostic Biomarkers and Molecular Pathways in Cerebral Palsy.
Xu Y et al.
Nature Communications, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes.
Jackson A et al.
Nature Genetics, 2025
Late-Onset Krabbe Disease: Case Report of Two Patients in a Chinese Family and Literature Review.
Sun Y et al.
Molecular Genetics & Genomic Medicine, 2025
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
Splicing mutations of GALC in adult patient with adult-onset Krabbe disease: case report and review of literature.
Su Y et al.
Neurocase, 2024
Genetic assessment of pathogenic germline alterations in lysosomal genes among Asian patients with pancreatic ductal adenocarcinoma.
Koh Y et al.
Journal of Translational Medicine, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review.
Iacono S et al.
Neurogenetics, 2022
Establishment of Cutoff Values for Newborn Screening of Six Lysosomal Storage Disorders by Tandem Mass Spectrometry.
Li R et al.
Frontiers in Pediatrics, 2022
A neglected neurodegenerative disease: Adult-onset globoid cell leukodystrophy.
Wu G et al.
Frontiers in Neuroscience, 2022
Adult-onset Krabbe disease presenting with progressive myoclonic epilepsy and asymmetric occipital lesions: A case report.
Wang Y et al.
Frontiers in Neurology, 2022
Two Cases of Female Chinese Adult-Onset Krabbe Disease with One Novel Mutation and a Review of Literature.
Zhang C et al.
Journal of Molecular Neuroscience : Mn, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Molecular dynamics simulations to decipher the structural and functional consequences of pathogenic missense mutations in the galactosylceramidase (GALC) protein causing Krabbe's disease.
D TK et al.
Journal of Biomolecular Structure & Dynamics, 2021
Rare Variants Analysis of Lysosomal Related Genes in Early-Onset and Familial Parkinson's Disease in a Chinese Cohort.
Chen YP et al.
Journal of Parkinson's Disease, 2021
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW et al.
Frontiers in Aging Neuroscience, 2021
New clinical characteristics and novel pathogenic variants of patients with hereditary leukodystrophies.
Xie JJ et al.
Cns Neuroscience & Therapeutics, 2020
Pathogenic Variants in GALC Gene Correlate With Late Onset Krabbe Disease and Vision Loss: Case Series and Review of Literature.
Bascou NA et al.
Frontiers in Neurology, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Four novel GALC gene mutations in two Chinese patients with Krabbe disease.
Yang Y et al.
Gene, 2013