Associated Papers
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.
McCann EP et al.
Journal of Neuromuscular Diseases, 2023
37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list
Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors.
Tang CSM et al.
Jci Insight, 2022
34905512 (PubMed )
Supplement: jciinsight-7-152198-s012.xlsx › SupplTable8._Rec_PseudoCtCADD20
Genetic Diagnostic Yield and Novel Causal Genes of Congenital Heart Disease.
Tan M et al.
Frontiers in Genetics, 2022
35910219 (PubMed )
Supplement: DataSheet1.xlsx › Table_S7
A Novel CD3G Mutation in a Taiwanese Patient With Normal T Regulatory Function Presenting With the CVID Phenotype Free of Autoimmunity-Analysis of all Genotypes and Phenotypes.
Lee WI et al.
Frontiers in Immunology, 2019
31921117 (PubMed )
Supplement: Data_Sheet_1.pdf
[Screening of the SETX gene in sporadic amyotrophic lateral sclerosis patients of Chinese origin].
Zhang H et al.
Zhonghua Yi Xue Za Zhi, 2018
Screening for possible oligogenic pathogenesis in Chinese sporadic ALS patients.
Zhang H et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2018
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