Associated Papers
Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly.
Ji L et al.
The Journal of Clinical Investigation, 2025
40608414 (PubMed )
Supplement: jci-135-186119-s227.pdf
Rapid change in red cell blood group systems after the main Out of Africa of Homo sapiens.
Mazières S et al.
Scientific Reports, 2025
39848961 (PubMed )
Supplement: 41598_2024_83023_MOESM1_ESM.xlsx › Table_S7
Audiologic Measures in an Indigenous Community with A2ML1- and FUT2-Related Otitis Media.
Santos-Cortez RLP et al.
Genetic Testing and Molecular Biomarkers, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms.
Luo H et al.
European Journal of Human Genetics : Ejhg, 2021
33867526 (PubMed )
Supplement: 41431_2021_886_MOESM2_ESM.xlsx › TableS4
Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants.
Frank DN et al.
Journal of Medical Genetics, 2021
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1
Chromosomal microarray and whole-exome sequence analysis in Taiwanese patients with autism spectrum disorder.
Chang YS et al.
Molecular Genetics & Genomic Medicine, 2019
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S5-Hom-PTVs
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
FUT2 Variants Confer Susceptibility to Familial Otitis Media.
Santos-Cortez RLP et al.
American Journal of Human Genetics, 2018
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
24448499 (PubMed )
Supplement: NIHMS551112-supplement-5.xlsx › S_Data_4
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