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For: Djakow J, Kramná L, Dušátková L, Uhlík J, Pursiheimo JP, Svobodová T, Pohunek P, Cinek O. An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia. Pediatr Pulmonol 2016;51:498-509. [PMID: 26228299 DOI: 10.1002/ppul.23261] [Cited by in Crossref: 17] [Cited by in F6Publishing: 15] [Article Influence: 2.4] [Reference Citation Analysis]
Number Citing Articles
1 Birnkrant DJ, Black JB, Tapia IE, Nicolai T, Gower WA, Noah TL. Pediatric Pulmonology year in review 2016: Part 1. Pediatr Pulmonol 2017;52:1226-33. [PMID: 28440921 DOI: 10.1002/ppul.23720] [Reference Citation Analysis]
2 Paff T, Kooi IE, Moutaouakil Y, Riesebos E, Sistermans EA, Daniels HJMA, Weiss JMM, Niessen HHWM, Haarman EG, Pals G, Micha D. Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients. Hum Mutat 2018;39:653-65. [PMID: 29363216 DOI: 10.1002/humu.23403] [Cited by in Crossref: 20] [Cited by in F6Publishing: 17] [Article Influence: 5.0] [Reference Citation Analysis]
3 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]
4 Andjelkovic M, Minic P, Vreca M, Stojiljkovic M, Skakic A, Sovtic A, Rodic M, Skodric-Trifunovic V, Maric N, Visekruna J, Spasovski V, Pavlovic S. Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants. PLoS One 2018;13:e0205422. [PMID: 30300419 DOI: 10.1371/journal.pone.0205422] [Cited by in Crossref: 16] [Cited by in F6Publishing: 12] [Article Influence: 4.0] [Reference Citation Analysis]
5 Mabrouk I, Al-harthi N, Mani R, Montantin G, Tissier S, Lagha R, Ben Abdallah F, Hassan MM, Alhomrani M, Gaber A, Alsanie WF, Ouali H, Jambi FA, Almaghamsi TM, Alqarni NA, Alfarsi NA, Kashgari K, Al-zahrani HJ, Al-shamary ZA, Al-harbi A, Amselem S, Escudier E, Legendre M. Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients. J Hum Genet. [DOI: 10.1038/s10038-021-01006-9] [Reference Citation Analysis]
6 Baz-Redón N, Rovira-Amigo S, Paramonov I, Castillo-Corullón S, Cols Roig M, Antolín M, García Arumí E, Torrent-Vernetta A, de Mir Messa I, Gartner S, Iglesias Serrano I, Caballero-Rabasco MA, Asensio de la Cruz Ó, Vizmanos-Lamotte G, Martín de Vicente C, Martínez-Colls MDM, Reula A, Escribano A, Dasí F, Armengot-Carceller M, Polverino E, Amengual Pieras E, Amaro-Rodríguez R, Garrido-Pontnou M, Tizzano E, Camats-Tarruella N, Fernández-Cancio M, Moreno-Galdó A. Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia. Arch Bronconeumol (Engl Ed) 2021;57:186-94. [PMID: 32253119 DOI: 10.1016/j.arbres.2020.02.010] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
7 Takeuchi K, Kitano M, Kiyotoshi H, Ikegami K, Ogawa S, Ikejiri M, Nagao M, Fujisawa T, Nakatani K. A targeted next-generation sequencing panel reveals novel mutations in Japanese patients with primary ciliary dyskinesia. Auris Nasus Larynx 2018;45:585-91. [PMID: 28939216 DOI: 10.1016/j.anl.2017.09.007] [Cited by in Crossref: 18] [Cited by in F6Publishing: 16] [Article Influence: 3.6] [Reference Citation Analysis]
8 Yue Y, Huang Q, Zhu P, Zhao P, Tan X, Liu S, Li S, Han X, Cheng L, Li B, Fu Y. Identification of Pathogenic Mutations and Investigation of the NOTCH Pathway Activation in Kartagener Syndrome. Front Genet 2019;10:749. [PMID: 31507630 DOI: 10.3389/fgene.2019.00749] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 1.3] [Reference Citation Analysis]
9 Yang L, Banerjee S, Cao J, Bai X, Peng Z, Chen H, Huang H, Han P, Feng S, Yi N, Song X, Wu J. Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family with Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastructure. Front Genet 2018;9:23. [PMID: 29456554 DOI: 10.3389/fgene.2018.00023] [Cited by in Crossref: 9] [Cited by in F6Publishing: 8] [Article Influence: 2.3] [Reference Citation Analysis]
10 Oud MM, Lamers IJ, Arts HH. Ciliopathies: Genetics in Pediatric Medicine. J Pediatr Genet 2017;6:18-29. [PMID: 28180024 DOI: 10.1055/s-0036-1593841] [Cited by in Crossref: 23] [Cited by in F6Publishing: 22] [Article Influence: 3.8] [Reference Citation Analysis]
11 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]
12 Guo T, Tan ZP, Chen HM, Zheng DY, Liu L, Huang XG, Chen P, Luo H, Yang YF. An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families. Sci Rep 2017;7:7905. [PMID: 28801648 DOI: 10.1038/s41598-017-08510-z] [Cited by in Crossref: 16] [Cited by in F6Publishing: 15] [Article Influence: 3.2] [Reference Citation Analysis]
13 Liu L, Luo H. Whole-Exome Sequencing Identified a Novel Compound Heterozygous Mutation of LRRC6 in a Chinese Primary Ciliary Dyskinesia Patient. Biomed Res Int 2018;2018:1854269. [PMID: 29511670 DOI: 10.1155/2018/1854269] [Cited by in Crossref: 4] [Cited by in F6Publishing: 8] [Article Influence: 1.0] [Reference Citation Analysis]
14 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]
15 Antony D, Gulec Yilmaz E, Gezdirici A, Slagter L, Bakey Z, Bornaun H, Tanidir IC, Van Dinh T, Brunner HG, Walentek P, Arnold SJ, Backofen R, Schmidts M. Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases. Front Genet 2022;13:861236. [DOI: 10.3389/fgene.2022.861236] [Reference Citation Analysis]
16 Fassad MR, Patel MP, Shoemark A, Cullup T, Hayward J, Dixon M, Rogers AV, Ollosson S, Jackson C, Goggin P, Hirst RA, Rutman A, Thompson J, Jenkins L, Aurora P, Moya E, Chetcuti P, O'Callaghan C, Morris-Rosendahl DJ, Watson CM, Wilson R, Carr S, Walker W, Pitno A, Lopes S, Morsy H, Shoman W, Pereira L, Constant C, Loebinger MR, Chung EMK, Kenia P, Rumman N, Fasseeh N, Lucas JS, Hogg C, Mitchison HM. Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort. J Med Genet 2020;57:322-30. [PMID: 31879361 DOI: 10.1136/jmedgenet-2019-106501] [Cited by in Crossref: 14] [Cited by in F6Publishing: 14] [Article Influence: 4.7] [Reference Citation Analysis]
17 Fassad MR, Shoman WI, Morsy H, Patel MP, Radwan N, Jenkins L, Cullup T, Fouda E, Mitchison HM, Fasseeh N. Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia. Clin Genet 2020;97:509-15. [PMID: 31650533 DOI: 10.1111/cge.13661] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 2.0] [Reference Citation Analysis]
18 Liu L, Zhou K, Song Y, Liu X. CCDC40 mutation as a cause of infertility in a Chinese family with primary ciliary dyskinesia. Medicine (Baltimore) 2021;100:e28275. [PMID: 34941110 DOI: 10.1097/MD.0000000000028275] [Reference Citation Analysis]
19 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]
20 Boaretto F, Snijders D, Salvoro C, Spalletta A, Mostacciuolo ML, Collura M, Cazzato S, Girosi D, Silvestri M, Rossi GA, Barbato A, Vazza G. Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients. J Mol Diagn 2016;18:912-22. [PMID: 27637300 DOI: 10.1016/j.jmoldx.2016.07.002] [Cited by in Crossref: 27] [Cited by in F6Publishing: 25] [Article Influence: 4.5] [Reference Citation Analysis]