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For: Kim RH, A Hall D, Cutz E, Knowles MR, Nelligan KA, Nykamp K, Zariwala MA, Dell SD. The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. Ann Am Thorac Soc 2014;11:351-9. [PMID: 24498942 DOI: 10.1513/AnnalsATS.201306-194OC] [Cited by in Crossref: 38] [Cited by in F6Publishing: 18] [Article Influence: 4.8] [Reference Citation Analysis]
Number Citing Articles
1 Xiong Y, Xia H, Yuan L, Deng S, Ding Z, Deng H. Identification of compound heterozygous DNAH11 variants in a Han-Chinese family with primary ciliary dyskinesia. J Cell Mol Med 2021;25:9028-37. [PMID: 34405951 DOI: 10.1111/jcmm.16866] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
2 Hannah WB, Seifert BA, Truty R, Zariwala MA, Ameel K, Zhao Y, Nykamp K, Gaston B. The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis. The Lancet Respiratory Medicine 2022;10:459-68. [DOI: 10.1016/s2213-2600(21)00453-7] [Cited by in Crossref: 4] [Cited by in F6Publishing: 1] [Article Influence: 4.0] [Reference Citation Analysis]
3 Yaghi A, Dolovich MB. Airway Epithelial Cell Cilia and Obstructive Lung Disease. Cells 2016;5:E40. [PMID: 27845721 DOI: 10.3390/cells5040040] [Cited by in Crossref: 72] [Cited by in F6Publishing: 57] [Article Influence: 12.0] [Reference Citation Analysis]
4 Deng S, Wu S, Xia H, Xiong W, Deng X, Liao J, Deng H, Yuan L. Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome. Biosci Rep 2020;40:BSR20192510. [PMID: 32490514 DOI: 10.1042/BSR20192510] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 4.0] [Reference Citation Analysis]
5 Pereira R, Barbosa T, Alves Â, Santos R, Oliveira J, Sousa M. Unveiling the genetic etiology of primary ciliary dyskinesia: When standard genetic approach is not enough. Adv Med Sci 2020;65:1-11. [PMID: 31835165 DOI: 10.1016/j.advms.2019.10.003] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
6 Lu C, Yang D, Lei C, Wang R, Guo T, Luo H. Identification of Two Novel DNAAF2 Variants in Two Consanguineous Families with Primary Ciliary Dyskinesia. Pharmgenomics Pers Med 2021;14:1415-23. [PMID: 34785929 DOI: 10.2147/PGPM.S338981] [Reference Citation Analysis]
7 Kilinc AA, Cebi MN, Ocak Z, Cokugras HC. The Relationship between Genotype and Phenotype in Primary Ciliary Dyskinesia Patients. Sisli Etfal Hastan Tip Bul 2021;55:188-92. [PMID: 34349594 DOI: 10.14744/SEMB.2020.22567] [Reference Citation Analysis]
8 Marshall CR, Scherer SW, Zariwala MA, Lau L, Paton TA, Stockley T, Jobling RK, Ray PN, Knowles MR, Hall DA, Dell SD, Kim RH; FORGE Canada Consortium. Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. G3 (Bethesda) 2015;5:1775-81. [PMID: 26139845 DOI: 10.1534/g3.115.019851] [Cited by in Crossref: 38] [Cited by in F6Publishing: 39] [Article Influence: 5.4] [Reference Citation Analysis]
9 Johnson B, Ouyang K, Frank L, Truty R, Rojahn S, Morales A, Aradhya S, Nykamp K. Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significance. Am J Med Genet A 2022. [PMID: 35570716 DOI: 10.1002/ajmg.a.62779] [Reference Citation Analysis]
10 Young LR, Trapnell BC, Mandl KD, Swarr DT, Wambach JA, Blaisdell CJ. Accelerating Scientific Advancement for Pediatric Rare Lung Disease Research. Report from a National Institutes of Health-NHLBI Workshop, September 3 and 4, 2015. Ann Am Thorac Soc 2016;13:385-93. [PMID: 27925785 DOI: 10.1513/AnnalsATS.201605-402OT] [Cited by in Crossref: 7] [Cited by in F6Publishing: 3] [Article Influence: 1.8] [Reference Citation Analysis]
11 Kouis P, Papatheodorou SI, Yiallouros PK. Diagnostic accuracy of nasal nitric oxide for establishing diagnosis of primary ciliary dyskinesia: a meta-analysis. BMC Pulm Med 2015;15:153. [PMID: 26634346 DOI: 10.1186/s12890-015-0147-3] [Cited by in Crossref: 18] [Cited by in F6Publishing: 17] [Article Influence: 2.6] [Reference Citation Analysis]
12 Leigh MW, Horani A, Kinghorn B, O'Connor MG, Zariwala MA, Knowles MR. Primary Ciliary Dyskinesia (PCD): A genetic disorder of motile cilia. Transl Sci Rare Dis 2019;4:51-75. [PMID: 31572664 DOI: 10.3233/TRD-190036] [Cited by in Crossref: 12] [Cited by in F6Publishing: 11] [Article Influence: 4.0] [Reference Citation Analysis]
13 Kouis P, Papatheodorou SI, Middleton N, Giallouros G, Kyriacou K, Cohen JT, Evans JS, Yiallouros PK. Cost-effectiveness analysis of three algorithms for diagnosing primary ciliary dyskinesia: a simulation study. Orphanet J Rare Dis 2019;14:142. [PMID: 31196140 DOI: 10.1186/s13023-019-1116-3] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
14 Damseh N, Quercia N, Rumman N, Dell SD, Kim RH. Primary ciliary dyskinesia: mechanisms and management. Appl Clin Genet 2017;10:67-74. [PMID: 29033599 DOI: 10.2147/TACG.S127129] [Cited by in Crossref: 35] [Cited by in F6Publishing: 17] [Article Influence: 7.0] [Reference Citation Analysis]
15 Amirav I, Roduta Roberts M, Mussaffi H, Mandelberg A, Roth Y, Abitbul R, Luder A, Blau H, Alkrinawi S, Aviram M, Ben-ami M, Rotschild M, Bentur L, Shoseyov D, Cohen-cymberknoh M, Kerem E, Avital A, Springer C, Hevroni A, Dabbah H, Elizur A, Picard E, Goldberg S, Rivlin J, Livnat G, Lavie M, Alias N, Soferman R, Olbrich H, Raidt J, Wallmeier J, Werner C, Loges NT, Omran H. Collecting clinical data in primary ciliary dyskinesia- challenges and opportunities. F1000Res 2016;5:2031. [DOI: 10.12688/f1000research.9323.1] [Cited by in Crossref: 4] [Cited by in F6Publishing: 1] [Article Influence: 0.7] [Reference Citation Analysis]
16 Wang L, Zhao X, Liang H, Zhang L, Li C, Li D, Meng X, Meng F, Gao M. Novel compound heterozygous mutations of DNAH5 identified in a pediatric patient with Kartagener syndrome: case report and literature review. BMC Pulm Med 2021;21:263. [PMID: 34391405 DOI: 10.1186/s12890-021-01586-4] [Reference Citation Analysis]
17 Shapiro AJ, Davis SD, Polineni D, Manion M, Rosenfeld M, Dell SD, Chilvers MA, Ferkol TW, Zariwala MA, Sagel SD, Josephson M, Morgan L, Yilmaz O, Olivier KN, Milla C, Pittman JE, Daniels MLA, Jones MH, Janahi IA, Ware SM, Daniel SJ, Cooper ML, Nogee LM, Anton B, Eastvold T, Ehrne L, Guadagno E, Knowles MR, Leigh MW, Lavergne V; American Thoracic Society Assembly on Pediatrics. Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline. Am J Respir Crit Care Med 2018;197:e24-39. [PMID: 29905515 DOI: 10.1164/rccm.201805-0819ST] [Cited by in Crossref: 124] [Cited by in F6Publishing: 58] [Article Influence: 41.3] [Reference Citation Analysis]
18 Stevanovic N, Skakic A, Minic P, Sovtic A, Stojiljkovic M, Pavlovic S, Andjelkovic M. Identification and Classification of Novel Genetic Variants: En Route to the Diagnosis of Primary Ciliary Dyskinesia. Int J Mol Sci 2021;22:8821. [PMID: 34445527 DOI: 10.3390/ijms22168821] [Reference Citation Analysis]
19 Ing A, Wlodaver A, Kirschmann D, Toledo E, McCabe C, Kadri S, McIntyre MK, Salazar J, Firestein K, Charrow J, Sanders V, Laguna T, Yap KL. Transcript analysis for variant classification resolution in a child with primary ciliary dyskinesia. Cold Spring Harb Mol Case Stud 2021;7:a005363. [PMID: 33608380 DOI: 10.1101/mcs.a005363] [Reference Citation Analysis]
20 Milla CE. The evolving spectrum of ciliopathies and respiratory disease. Curr Opin Pediatr 2016;28:339-47. [PMID: 27070443 DOI: 10.1097/MOP.0000000000000358] [Cited by in Crossref: 8] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
21 Dabrowski M, Bukowy-Bieryllo Z, Jackson CL, Zietkiewicz E. Properties of Non-Aminoglycoside Compounds Used to Stimulate Translational Readthrough of PTC Mutations in Primary Ciliary Dyskinesia. Int J Mol Sci 2021;22:4923. [PMID: 34066907 DOI: 10.3390/ijms22094923] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
22 Amirav I, Roduta Roberts M, Mussaffi H, Mandelberg A, Roth Y, Abitbul R, Luder A, Blau H, Alkrinawi S, Aviram M, Ben-Ami M, Rotschild M, Bentur L, Shoseyov D, Cohen-Cymberknoh M, Kerem E, Avital A, Springer C, Hevroni A, Dabbah H, Elizur A, Picard E, Goldberg S, Rivlin J, Livnat G, Lavie M, Alias N, Soferman R, Olbrich H, Raidt J, Wallmeier J, Werner C, Loges NT, Omran H. Collecting clinical data in primary ciliary dyskinesia- challenges and opportunities. F1000Res 2016;5:2031. [PMID: 27781089 DOI: 10.12688/f1000research.9323.2] [Cited by in F6Publishing: 2] [Reference Citation Analysis]
23 Rocca MS, Piatti G, Michelucci A, Guazzo R, Bertini V, Vinanzi C, Caligo MA, Valetto A, Foresta C. A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report. BMC Med Genet 2020;21:220. [PMID: 33167880 DOI: 10.1186/s12881-020-01160-5] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
24 Shapiro AJ, Zariwala MA, Ferkol T, Davis SD, Sagel SD, Dell SD, Rosenfeld M, Olivier KN, Milla C, Daniel SJ, Kimple AJ, Manion M, Knowles MR, Leigh MW; Genetic Disorders of Mucociliary Clearance Consortium. Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review. Pediatr Pulmonol 2016;51:115-32. [PMID: 26418604 DOI: 10.1002/ppul.23304] [Cited by in Crossref: 170] [Cited by in F6Publishing: 138] [Article Influence: 24.3] [Reference Citation Analysis]