Whole-genome Sequencing Reveals a Novel Structural Variant of CCDC39 in a Term Neonate with Primary Ciliary Dyskinesia

참고문헌 (10)

1. Mullowney T, "Primary ciliary dyskinesia and neonatal respiratory distress", Pediatrics, 134, pp.1160~1166 (2014)
2. Coren ME, "Primary ciliary dyskinesia : age at diagnosis and symptom history", Acta Paediatr, 91, pp.667~669 (2002)
3. Kuehni CE, "Factors influencing age at diagnosis of primary ciliary dyskinesia in European children", Eur Respir J, 36, pp.1248~1258 (2010)
4. Shapiro AJ, "Diagnosis of primary ciliary dyskinesia. An official American Thoracic Society clinical practice guideline", Am J Respir Crit Care Med, 197, pp.e24~39 (2018)
5. Richards S, "Standards and guidelines for the interpretation of sequence variants : a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology", Genet Med, 17, pp.405~423 (2015)
6. Kano G, "Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia", Mol Med Rep, 14, pp.5077~5083 (2016)
7. Wheway G, "Whole genome sequencing in the diagnosis of primary ciliary dyskinesia", BMC Med Genomics, 14, pp.234~ (2021)
8. Zhao X, "Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia", Orphanet J Rare Dis, 16, pp.293~ (2021)
9. Merveille AC, "CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs", Nat Genet, 43, pp.72~78 (2011)
10. Riggs ER, "Technical standards for the interpretation and reporting of constitutional copy-number variants : a joint consensus recommendation of the American College of Medical Genetics and Genomics(ACMG)and the Clinical Genome Resource(ClinGen)", Genet Med, 22, pp.245~257 (2020)

관련 논문AI추천