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For: Castleman VH, Romio L, Chodhari R, Hirst RA, de Castro SC, Parker KA, Ybot-Gonzalez P, Emes RD, Wilson SW, Wallis C, Johnson CA, Herrera RJ, Rutman A, Dixon M, Shoemark A, Bush A, Hogg C, Gardiner RM, Reish O, Greene ND, O'Callaghan C, Purton S, Chung EM, Mitchison HM. Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. Am J Hum Genet 2009;84:197-209. [PMID: 19200523 DOI: 10.1016/j.ajhg.2009.01.011] [Cited by in Crossref: 219] [Cited by in F6Publishing: 197] [Article Influence: 16.8] [Reference Citation Analysis]
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10 Jeanson L, Copin B, Papon JF, Dastot-Le Moal F, Duquesnoy P, Montantin G, Cadranel J, Corvol H, Coste A, Désir J, Souayah A, Kott E, Collot N, Tissier S, Louis B, Tamalet A, de Blic J, Clement A, Escudier E, Amselem S, Legendre M. RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes. Am J Hum Genet 2015;97:153-62. [PMID: 26073779 DOI: 10.1016/j.ajhg.2015.05.004] [Cited by in Crossref: 45] [Cited by in F6Publishing: 37] [Article Influence: 6.4] [Reference Citation Analysis]
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13 Gould CM, Freeman AF, Olivier KN. Genetic Causes of Bronchiectasis. Clinics in Chest Medicine 2012;33:249-63. [DOI: 10.1016/j.ccm.2012.03.002] [Cited by in Crossref: 9] [Cited by in F6Publishing: 7] [Article Influence: 0.9] [Reference Citation Analysis]
14 Shoemark A. Models of Ciliary Dysfunction: Time to Expand. Am J Respir Cell Mol Biol 2018;59:285-6. [DOI: 10.1165/rcmb.2018-0072ed] [Cited by in Crossref: 1] [Article Influence: 0.3] [Reference Citation Analysis]
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18 Vasudevan KK, Song K, Alford LM, Sale WS, Dymek EE, Smith EF, Hennessey T, Joachimiak E, Urbanska P, Wloga D, Dentler W, Nicastro D, Gaertig J. FAP206 is a microtubule-docking adapter for ciliary radial spoke 2 and dynein c. Mol Biol Cell 2015;26:696-710. [PMID: 25540426 DOI: 10.1091/mbc.E14-11-1506] [Cited by in Crossref: 15] [Cited by in F6Publishing: 11] [Article Influence: 1.9] [Reference Citation Analysis]
19 Zhu X, Liu Y, Yang P. Radial Spokes-A Snapshot of the Motility Regulation, Assembly, and Evolution of Cilia and Flagella. Cold Spring Harb Perspect Biol 2017;9:a028126. [PMID: 27940518 DOI: 10.1101/cshperspect.a028126] [Cited by in Crossref: 19] [Cited by in F6Publishing: 20] [Article Influence: 3.8] [Reference Citation Analysis]
20 Bush A, Hogg C. Primary ciliary dyskinesia: recent advances in epidemiology, diagnosis, management and relationship with the expanding spectrum of ciliopathy. Expert Review of Respiratory Medicine 2014;6:663-82. [DOI: 10.1586/ers.12.60] [Cited by in Crossref: 32] [Cited by in F6Publishing: 30] [Article Influence: 4.0] [Reference Citation Analysis]
21 Ziętkiewicz E, Nitka B, Voelkel K, Skrzypczak U, Bukowy Z, Rutkiewicz E, Humińska K, Przystałowska H, Pogorzelski A, Witt M. Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD). Respir Res 2010;11:174. [PMID: 21143860 DOI: 10.1186/1465-9921-11-174] [Cited by in Crossref: 21] [Cited by in F6Publishing: 18] [Article Influence: 1.8] [Reference Citation Analysis]
22 Höben IM, Hjeij R, Olbrich H, Dougherty GW, Nöthe-Menchen T, Aprea I, Frank D, Pennekamp P, Dworniczak B, Wallmeier J, Raidt J, Nielsen KG, Philipsen MC, Santamaria F, Venditto L, Amirav I, Mussaffi H, Prenzel F, Wu K, Bakey Z, Schmidts M, Loges NT, Omran H. Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms. Am J Hum Genet 2018;102:973-84. [PMID: 29727693 DOI: 10.1016/j.ajhg.2018.03.025] [Cited by in Crossref: 32] [Cited by in F6Publishing: 28] [Article Influence: 8.0] [Reference Citation Analysis]
23 Patel M, Patel S, Mangukia N, Patel S, Mankad A, Pandya H, Rawal R. Ocimum basilicum miRNOME revisited: A cross kingdom approach. Genomics 2019;111:772-85. [PMID: 29775783 DOI: 10.1016/j.ygeno.2018.04.016] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 0.8] [Reference Citation Analysis]
24 Savarese M, Grandone A, Perone L, Blanco Fdel V, De Luca G, Di Fruscio G, Fogu G, Piluso G, Perrone L, del Giudice EM, Nigro V. Familial trisomy 6p in mother and daughter. Am J Med Genet A 2013;161A:1675-81. [PMID: 23687068 DOI: 10.1002/ajmg.a.35928] [Cited by in Crossref: 3] [Article Influence: 0.3] [Reference Citation Analysis]
25 Geremek M, Bruinenberg M, Ziętkiewicz E, Pogorzelski A, Witt M, Wijmenga C. Gene expression studies in cells from primary ciliary dyskinesia patients identify 208 potential ciliary genes. Hum Genet 2011;129:283-93. [PMID: 21136274 DOI: 10.1007/s00439-010-0922-4] [Cited by in Crossref: 25] [Cited by in F6Publishing: 21] [Article Influence: 2.1] [Reference Citation Analysis]
26 Brennan SK, Ferkol TW, Davis SD. Emerging Genotype-Phenotype Relationships in Primary Ciliary Dyskinesia. Int J Mol Sci 2021;22:8272. [PMID: 34361034 DOI: 10.3390/ijms22158272] [Reference Citation Analysis]
27 Beydon N, Chambellan A, Alberti C, de Blic J, Clément A, Escudier E, Le Bourgeois M. Technical and practical issues for tidal breathing measurements of nasal nitric oxide in children: Nasal Nitric Oxide During Tidal Breathing. Pediatr Pulmonol 2015;50:1374-82. [DOI: 10.1002/ppul.23167] [Cited by in Crossref: 25] [Cited by in F6Publishing: 26] [Article Influence: 3.6] [Reference Citation Analysis]
28 Burgoyne T, Lewis A, Dewar A, Luther P, Hogg C, Shoemark A, Dixon M. Characterizing the ultrastructure of primary ciliary dyskinesia transposition defect using electron tomography: 3D Insight into the Ciliary Transposition Defect. Cytoskeleton 2014;71:294-301. [DOI: 10.1002/cm.21171] [Cited by in Crossref: 26] [Cited by in F6Publishing: 24] [Article Influence: 3.3] [Reference Citation Analysis]
29 De Jesús-Rojas W, Reyes-De Jesús D, Mosquera RA. Primary Ciliary Dyskinesia Diagnostic Challenges: Understanding the Clinical Phenotype of the Puerto Rican RSPH4A Founder Mutation. Diagnostics (Basel) 2021;11:281. [PMID: 33670432 DOI: 10.3390/diagnostics11020281] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 3.0] [Reference Citation Analysis]
30 Horani A, Brody SL, Ferkol TW, Shoseyov D, Wasserman MG, Ta-shma A, Wilson KS, Bayly PV, Amirav I, Cohen-Cymberknoh M, Dutcher SK, Elpeleg O, Kerem E. CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia. PLoS One 2013;8:e72299. [PMID: 23991085 DOI: 10.1371/journal.pone.0072299] [Cited by in Crossref: 77] [Cited by in F6Publishing: 69] [Article Influence: 8.6] [Reference Citation Analysis]
31 Lai CK, Gupta N, Wen X, Rangell L, Chih B, Peterson AS, Bazan JF, Li L, Scales SJ. Functional characterization of putative cilia genes by high-content analysis. Mol Biol Cell 2011;22:1104-19. [PMID: 21289087 DOI: 10.1091/mbc.E10-07-0596] [Cited by in Crossref: 52] [Cited by in F6Publishing: 46] [Article Influence: 4.7] [Reference Citation Analysis]
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33 Olm MA, Kögler JE Jr, Macchione M, Shoemark A, Saldiva PH, Rodrigues JC. Primary ciliary dyskinesia: evaluation using cilia beat frequency assessment via spectral analysis of digital microscopy images. J Appl Physiol (1985) 2011;111:295-302. [PMID: 21551013 DOI: 10.1152/japplphysiol.00629.2010] [Cited by in Crossref: 26] [Cited by in F6Publishing: 24] [Article Influence: 2.4] [Reference Citation Analysis]
34 Rimmer J, Patel M, Agarwal K, Hogg C, Arshad Q, Harcourt J. Peripheral Vestibular Dysfunction in Patients With Primary Ciliary Dyskinesia: Abnormal Otoconial Development? Otology & Neurotology 2015;36:662-9. [DOI: 10.1097/mao.0000000000000592] [Cited by in Crossref: 3] [Article Influence: 0.4] [Reference Citation Analysis]
35 Kott E, Legendre M, Copin B, Papon JF, Dastot-Le Moal F, Montantin G, Duquesnoy P, Piterboth W, Amram D, Bassinet L, Beucher J, Beydon N, Deneuville E, Houdouin V, Journel H, Just J, Nathan N, Tamalet A, Collot N, Jeanson L, Le Gouez M, Vallette B, Vojtek AM, Epaud R, Coste A, Clement A, Housset B, Louis B, Escudier E, Amselem S. Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. Am J Hum Genet 2013;93:561-70. [PMID: 23993197 DOI: 10.1016/j.ajhg.2013.07.013] [Cited by in Crossref: 108] [Cited by in F6Publishing: 95] [Article Influence: 12.0] [Reference Citation Analysis]
36 Duong Phu M, Bross S, Burkhalter MD, Philipp M. Limitations and opportunities in the pharmacotherapy of ciliopathies. Pharmacol Ther 2021;225:107841. [PMID: 33771583 DOI: 10.1016/j.pharmthera.2021.107841] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
37 Narasimhan V, Hjeij R, Vij S, Loges NT, Wallmeier J, Koerner-rettberg C, Werner C, Thamilselvam SK, Boey A, Choksi SP, Pennekamp P, Roy S, Omran H. Mutations in CCDC11 , which Encodes a Coiled-Coil Containing Ciliary Protein, Causes Situs Inversus Due to Dysmotility of Monocilia in the Left-Right Organizer. Human Mutation 2015;36:307-18. [DOI: 10.1002/humu.22738] [Cited by in Crossref: 21] [Cited by in F6Publishing: 18] [Article Influence: 3.0] [Reference Citation Analysis]
38 Diggle CP, Moore DJ, Mali G, zur Lage P, Ait-Lounis A, Schmidts M, Shoemark A, Garcia Munoz A, Halachev MR, Gautier P, Yeyati PL, Bonthron DT, Carr IM, Hayward B, Markham AF, Hope JE, von Kriegsheim A, Mitchison HM, Jackson IJ, Durand B, Reith W, Sheridan E, Jarman AP, Mill P. HEATR2 plays a conserved role in assembly of the ciliary motile apparatus. PLoS Genet 2014;10:e1004577. [PMID: 25232951 DOI: 10.1371/journal.pgen.1004577] [Cited by in Crossref: 44] [Cited by in F6Publishing: 37] [Article Influence: 5.5] [Reference Citation Analysis]
39 Adivitiya, Kaushik MS, Chakraborty S, Veleri S, Kateriya S. Mucociliary Respiratory Epithelium Integrity in Molecular Defense and Susceptibility to Pulmonary Viral Infections. Biology (Basel) 2021;10:95. [PMID: 33572760 DOI: 10.3390/biology10020095] [Cited by in Crossref: 2] [Article Influence: 2.0] [Reference Citation Analysis]
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41 Vallet C, Escudier E, Roudot-thoraval F, Blanchon S, Fauroux B, Beydon N, Boulé M, Vojtek AM, Amselem S, Clément A, Tamalet A. Primary ciliary dyskinesia presentation in 60 children according to ciliary ultrastructure. Eur J Pediatr 2013;172:1053-60. [DOI: 10.1007/s00431-013-1996-5] [Cited by in Crossref: 22] [Cited by in F6Publishing: 19] [Article Influence: 2.4] [Reference Citation Analysis]
42 Alsafwani RS, Nasser KK, Shinawi T, Banaganapalli B, ElSokary HA, Zaher ZF, Shaik NA, Abdelmohsen G, Al-Aama JY, Shapiro AJ, O Al-Radi O, Elango R, Alahmadi T. Novel MYO1D Missense Variant Identified Through Whole Exome Sequencing and Computational Biology Analysis Expands the Spectrum of Causal Genes of Laterality Defects. Front Med (Lausanne) 2021;8:724826. [PMID: 34589502 DOI: 10.3389/fmed.2021.724826] [Reference Citation Analysis]
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44 Shoemark A, Boon M, Brochhausen C, Bukowy-Bieryllo Z, De Santi MM, Goggin P, Griffin P, Hegele RG, Hirst RA, Leigh MW, Lupton A, MacKenney K, Omran H, Pache JC, Pinto A, Reinholt FP, Schroeder J, Yiallouros P, Escudier E; representing the BEAT-PCD Network Guideline Development Group. International consensus guideline for reporting transmission electron microscopy results in the diagnosis of primary ciliary dyskinesia (BEAT PCD TEM Criteria). Eur Respir J 2020;55:1900725. [PMID: 32060067 DOI: 10.1183/13993003.00725-2019] [Cited by in Crossref: 19] [Cited by in F6Publishing: 21] [Article Influence: 9.5] [Reference Citation Analysis]
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47 Teves ME, Zhang Z, Costanzo RM, Henderson SC, Corwin FD, Zweit J, Sundaresan G, Subler M, Salloum FN, Rubin BK, Strauss JF 3rd. Sperm-associated antigen-17 gene is essential for motile cilia function and neonatal survival. Am J Respir Cell Mol Biol 2013;48:765-72. [PMID: 23418344 DOI: 10.1165/rcmb.2012-0362OC] [Cited by in Crossref: 31] [Cited by in F6Publishing: 27] [Article Influence: 3.4] [Reference Citation Analysis]
48 Werner C, Lablans M, Ataian M, Raidt J, Wallmeier J, Große-Onnebrink J, Kuehni CE, Haarman EG, Leigh MW, Quittner AL, Lucas JS, Hogg C, Witt M, Priftis KN, Yiallouros P, Nielsen KG, Santamaria F, Ückert F, Omran H. An international registry for primary ciliary dyskinesia. Eur Respir J 2016;47:849-59. [PMID: 26659107 DOI: 10.1183/13993003.00776-2015] [Cited by in Crossref: 55] [Cited by in F6Publishing: 41] [Article Influence: 7.9] [Reference Citation Analysis]
49 Reish O, Slatkin M, Chapman-Shimshoni D, Elizur A, Chioza B, Castleman V, Mitchison HM. Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families. Ann Hum Genet 2010;74:117-25. [PMID: 20070851 DOI: 10.1111/j.1469-1809.2009.00559.x] [Cited by in Crossref: 12] [Cited by in F6Publishing: 10] [Article Influence: 1.0] [Reference Citation Analysis]
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51 Onoufriadis A, Shoemark A, Schmidts M, Patel M, Jimenez G, Liu H, Thomas B, Dixon M, Hirst RA, Rutman A, Burgoyne T, Williams C, Scully J, Bolard F, Lafitte JJ, Beales PL, Hogg C, Yang P, Chung EM, Emes RD, O'Callaghan C, Bouvagnet P, Mitchison HM; UK10K. Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects. Hum Mol Genet 2014;23:3362-74. [PMID: 24518672 DOI: 10.1093/hmg/ddu046] [Cited by in Crossref: 61] [Cited by in F6Publishing: 62] [Article Influence: 7.6] [Reference Citation Analysis]
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