Associated Papers
Germline Variant Burden Warrants Universal Genetic Testing in Pediatric Myeloid Leukemia.
Harmon LM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40766138 (PubMed )
Supplement: media-1.pdf
Novel compound heterozygous mutation in DNAH9 causes complex congenital heart disease.
Liu X et al.
Molecular Medicine Reports, 2025
40376972 (PubMed )
Supplement: Supplementary_Data2.pdf
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
Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.
Raidt J et al.
The European Respiratory Journal, 2024
38871375 (PubMed )
Supplement: ERJ-01769-2023.Table_E2.xlsx › AlleleFrequenciesgnomAD_22.03.2
Biallelic DNAH9 mutations are identified in Chinese patients with defective left-right patterning and cilia-related complex congenital heart disease.
Chen W et al.
Human Genetics, 2022
Differential Mutation Detection Capability Through Capture-Based Targeted Sequencing in Plasma Samples in Hepatocellular Carcinoma.
Gao J et al.
Frontiers in Oncology, 2021
33996539 (PubMed )
Supplement: DataSheet_8.xlsx › Table_S3
CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.
Dougherty GW et al.
Nature Communications, 2020
33139725 (PubMed )
Supplement: 41467_2020_19113_MOESM1_ESM.pdf
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