Associated Papers
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM8_ESM.xlsx › Validated_mutations
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
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Supplement: sj-xlsx-2-pkn-10.3233_jpd-212658.xlsx › Sheet1
Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort.
Cecchi AC et al.
Molecular Genetics & Genomic Medicine, 2019
31293106 (PubMed )
Supplement: MGG3-7-e836-s002.xlsx › Table_S5._Ethnicity-specific_va
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