Associated Papers
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.
Shoemark A et al.
The European Respiratory Journal, 2021
APOBEC Mutagenesis and Copy-Number Alterations Are Drivers of Proteogenomic Tumor Evolution and Heterogeneity in Metastatic Thoracic Tumors.
Roper N et al.
Cell Reports, 2019
30840888 (PubMed )
Supplement: NIHMS1523294-supplement-6.xlsx › RA006
Genetic basis of human left-right asymmetry disorders.
Deng H et al.
Expert Reviews in Molecular Medicine, 2015
Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.
Raidt J et al.
The European Respiratory Journal, 2014
Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.
Onoufriadis A et al.
Journal of Medical Genetics, 2014
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.
Hjeij R et al.
American Journal of Human Genetics, 2013
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