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
Integrating epidemiology and genomics data to estimate the prevalence of acquired cysteine drug targets in the U.S. cancer patient population.
Arun AS et al.
The Pharmacogenomics Journal, 2025
Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach.
Rai A et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
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
Limitations of Nasal Nitric Oxide Measurement for Diagnosis of Primary Ciliary Dyskinesia with Normal Ultrastructure.
Raidt J et al.
Annals of the American Thoracic Society, 2022
Whole genome sequencing in the diagnosis of primary ciliary dyskinesia.
Wheway G et al.
Bmc Medical Genomics, 2021
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.
Shoemark A et al.
The European Respiratory Journal, 2021
Functional analysis of RPS27 mutations and expression in melanoma.
Floristán A et al.
Pigment Cell & Melanoma Research, 2020
A quantitative super-resolution imaging toolbox for diagnosis of motile ciliopathies.
Liu Z et al.
Science Translational Medicine, 2020
Randomization of Left-right Asymmetry and Congenital Heart Defects: The Role of DNAH5 in Humans and Mice.
Nöthe-Menchen T et al.
Circulation. Genomic and Precision Medicine, 2019
Structural and Functional Lung Impairment in Primary Ciliary Dyskinesia. Assessment with Magnetic Resonance Imaging and Multiple Breath Washout in Comparison to Spirometry.
Nyilas S et al.
Annals of the American Thoracic Society, 2018
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Jin SC et al.
Nature Genetics, 2017
Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma.
Krauthammer M et al.
Nature Genetics, 2012
Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.
Failly M et al.
Journal of Medical Genetics, 2009