Associated Papers
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
Whole-exome sequencing reveals genetic variants that may play a role in neurocytomas.
Khowal S et al.
Journal of Neuro-oncology, 2024
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.
Shoemark A et al.
The European Respiratory Journal, 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
DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease.
Xia H et al.
Plos One, 2021
Primary ciliary dyskinesia with normal ultrastructure: three-dimensional tomography detects absence of DNAH11.
Shoemark A et al.
The European Respiratory Journal, 2018
Clonal architectures and driver mutations in metastatic melanomas.
Ding L et al.
Plos One, 2014
25393105 (PubMed )
Supplement: pone.0111153.s002.zip › File_S2 › Table_S11.xls › Supp_Table_11
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