Associated Papers
Noncoding DNA Variants Increase the Genetic Diagnostic Yield in Primary Ciliary Dyskinesia.
Briggs L et al.
American Journal of Respiratory and Critical Care Medicine, 2025
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
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum.
Rumman N et al.
Erj Open Research, 2023
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S3-final_16052022.xlsx › Table_S3A
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
Identification of compound heterozygous DNAH11 variants in a Han-Chinese family with primary ciliary dyskinesia.
Xiong Y et al.
Journal of Cellular and Molecular Medicine, 2021
Implementation of multigene panel NGS diagnosis in the national primary ciliary dyskinesia cohort of Cyprus: An island with a high disease prevalence.
Yiallouros PK et al.
Human Mutation, 2021
Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.
Kobayashi Y et al.
Genome Medicine, 2017
28166811 (PubMed )
Supplement: 13073_2017_403_MOESM2_ESM.xlsx › Sheet1
Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants.
Griswold AJ et al.
Molecular Autism, 2015
26185613 (PubMed )
Supplement: 13229_2015_34_MOESM3_ESM.xlsx › Sheet1
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