Associated Papers
Recessive genetic contribution to congenital heart disease in 5,424 probands.
Dong W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
40030011 (PubMed )
Supplement: pnas.2419992122.sd02.xlsx › Dataset_S2_-_RGs
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
Analysis of Aberrant Splicing Events and Gene Expression Outliers in Primary Ciliary Dyskinesia.
Hijikata M et al.
American Journal of Respiratory Cell and Molecular Biology, 2023
37260176 (PubMed )
Supplement: hijikata_data_supplement.pdf
A Japanese Case of Primary Ciliary Dyskinesia with DNAH5 Mutations.
Orimo M et al.
Internal Medicine (tokyo, Japan), 2019
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Jin SC et al.
Nature Genetics, 2017
28991257 (PubMed )
Supplement: NIHMS906719-supplement-1.pdf
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