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For: Knowles MR, Leigh MW, Carson JL, Davis SD, Dell SD, Ferkol TW, Olivier KN, Sagel SD, Rosenfeld M, Burns KA, Minnix SL, Armstrong MC, Lori A, Hazucha MJ, Loges NT, Olbrich H, Becker-Heck A, Schmidts M, Werner C, Omran H, Zariwala MA; Genetic Disorders of Mucociliary Clearance Consortium. Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. Thorax 2012;67:433-41. [PMID: 22184204 DOI: 10.1136/thoraxjnl-2011-200301] [Cited by in Crossref: 138] [Cited by in F6Publishing: 122] [Article Influence: 12.5] [Reference Citation Analysis]
Number Citing Articles
1 Daniels ML, Noone PG. Genetics, diagnosis, and future treatment strategies for primary ciliary dyskinesia. Expert Opin Orphan Drugs 2015;3:31-44. [PMID: 26998415 DOI: 10.1517/21678707.2015.989212] [Cited by in Crossref: 11] [Cited by in F6Publishing: 8] [Article Influence: 1.4] [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 Lucas JS, Walker WT. Nasal nitric oxide is an important test in the diagnostic pathway for primary ciliary dyskinesia. Ann Am Thorac Soc 2013;10:645-7. [PMID: 24364768 DOI: 10.1513/AnnalsATS.201309-328ED] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 0.9] [Reference Citation Analysis]
4 Pereira R, Oliveira J, Ferraz L, Barros A, Santos R, Sousa M. Mutation analysis in patients with total sperm immotility. J Assist Reprod Genet 2015;32:893-902. [PMID: 25877373 DOI: 10.1007/s10815-015-0474-6] [Cited by in Crossref: 17] [Cited by in F6Publishing: 16] [Article Influence: 2.4] [Reference Citation Analysis]
5 Sherman F, Wodrich M, Zampi JD, Lee J, McCaffery H, Saba TG. Phenotypic features of ciliary dyskinesia among patients with congenital cardiovascular malformations. Pediatr Pulmonol 2020;55:2674-82. [PMID: 32662935 DOI: 10.1002/ppul.24959] [Reference Citation Analysis]
6 Lucas JS, Barbato A, Collins SA, Goutaki M, Behan L, Caudri D, Dell S, Eber E, Escudier E, Hirst RA, Hogg C, Jorissen M, Latzin P, Legendre M, Leigh MW, Midulla F, Nielsen KG, Omran H, Papon JF, Pohunek P, Redfern B, Rigau D, Rindlisbacher B, Santamaria F, Shoemark A, Snijders D, Tonia T, Titieni A, Walker WT, Werner C, Bush A, Kuehni CE. European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia. Eur Respir J 2017;49:1601090. [PMID: 27836958 DOI: 10.1183/13993003.01090-2016] [Cited by in Crossref: 254] [Cited by in F6Publishing: 214] [Article Influence: 50.8] [Reference Citation Analysis]
7 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]
8 Abdelhamed Z, Lukacs M, Cindric S, Ali S, Omran H, Stottmann RW. A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice. Dis Model Mech 2020;13:dmm045344. [PMID: 32988999 DOI: 10.1242/dmm.045344] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
9 Tarkar A, Loges NT, Slagle CE, Francis R, Dougherty GW, Tamayo JV, Shook B, Cantino M, Schwartz D, Jahnke C, Olbrich H, Werner C, Raidt J, Pennekamp P, Abouhamed M, Hjeij R, Köhler G, Griese M, Li Y, Lemke K, Klena N, Liu X, Gabriel G, Tobita K, Jaspers M, Morgan LC, Shapiro AJ, Letteboer SJ, Mans DA, Carson JL, Leigh MW, Wolf WE, Chen S, Lucas JS, Onoufriadis A, Plagnol V, Schmidts M, Boldt K, Roepman R, Zariwala MA, Lo CW, Mitchison HM, Knowles MR, Burdine RD, Loturco JJ, Omran H; UK10K. DYX1C1 is required for axonemal dynein assembly and ciliary motility. Nat Genet 2013;45:995-1003. [PMID: 23872636 DOI: 10.1038/ng.2707] [Cited by in Crossref: 184] [Cited by in F6Publishing: 160] [Article Influence: 20.4] [Reference Citation Analysis]
10 Baker MA, Weinberg A, Hetherington L, Villaverde A, Velkov T, Baell J, Gordon CP. Defining the Mechanisms by Which the Reactive Oxygen Species By-Product, 4-Hydroxynonenal, Affects Human Sperm Cell Function1. Biology of Reproduction 2015;92. [DOI: 10.1095/biolreprod.114.126680] [Cited by in Crossref: 38] [Cited by in F6Publishing: 35] [Article Influence: 5.4] [Reference Citation Analysis]
11 Ryu D, Ryu J, Lee C. Genome-wide association study reveals sex-specific selection signals against autosomal nucleotide variants. J Hum Genet 2016;61:423-6. [PMID: 26763874 DOI: 10.1038/jhg.2015.169] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 1.2] [Reference Citation Analysis]
12 Wartchow EP, Jaffe R, Mierau GW. Ciliary inclusion disease: report of a new primary ciliary dyskinesia variant. Pediatr Dev Pathol 2014;17:465-9. [PMID: 25299134 DOI: 10.2350/14-06-1504-OA.1] [Cited by in Crossref: 6] [Cited by in F6Publishing: 3] [Article Influence: 0.8] [Reference Citation Analysis]
13 Xia H, Huang X, Deng S, Xu H, Yang Y, Liu X, Yuan L, Deng H. DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease. PLoS One 2021;16:e0252786. [PMID: 34133440 DOI: 10.1371/journal.pone.0252786] [Reference Citation Analysis]
14 Vece TJ, Sagel SD, Zariwala MA, Sullivan KM, Burns KA, Dutcher SK, Yusupov R, Leigh MW, Knowles MR. Cytoplasmic "ciliary inclusions" in isolation are not sufficient for the diagnosis of primary ciliary dyskinesia. Pediatr Pulmonol 2020;55:130-5. [PMID: 31549486 DOI: 10.1002/ppul.24528] [Cited by in Crossref: 1] [Article Influence: 0.3] [Reference Citation Analysis]
15 Solomon GM, Francis R, Chu KK, Birket SE, Gabriel G, Trombley JE, Lemke KL, Klena N, Turner B, Tearney GJ, Lo CW, Rowe SM. Assessment of ciliary phenotype in primary ciliary dyskinesia by micro-optical coherence tomography. JCI Insight 2017;2:e91702. [PMID: 28289722 DOI: 10.1172/jci.insight.91702] [Cited by in Crossref: 12] [Cited by in F6Publishing: 11] [Article Influence: 2.4] [Reference Citation Analysis]
16 Kempeneers C, Seaton C, Garcia Espinosa B, Chilvers MA. Ciliary functional analysis: Beating a path towards standardization. Pediatr Pulmonol 2019;54:1627-38. [PMID: 31313529 DOI: 10.1002/ppul.24439] [Cited by in Crossref: 9] [Cited by in F6Publishing: 9] [Article Influence: 3.0] [Reference Citation Analysis]
17 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]
18 Horani A, Brody SL, Ferkol TW. Picking up speed: advances in the genetics of primary ciliary dyskinesia. Pediatr Res 2014;75:158-64. [PMID: 24192704 DOI: 10.1038/pr.2013.200] [Cited by in Crossref: 50] [Cited by in F6Publishing: 43] [Article Influence: 5.6] [Reference Citation Analysis]
19 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]
20 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: 38] [Cited by in F6Publishing: 31] [Article Influence: 9.5] [Reference Citation Analysis]
21 Bustamante-Marin XM, Horani A, Stoyanova M, Charng WL, Bottier M, Sears PR, Yin WN, Daniels LA, Bowen H, Conrad DF, Knowles MR, Ostrowski LE, Zariwala MA, Dutcher SK. Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia. PLoS Genet 2020;16:e1008691. [PMID: 32764743 DOI: 10.1371/journal.pgen.1008691] [Cited by in Crossref: 12] [Cited by in F6Publishing: 10] [Article Influence: 6.0] [Reference Citation Analysis]
22 Dougherty GW, Loges NT, Klinkenbusch JA, Olbrich H, Pennekamp P, Menchen T, Raidt J, Wallmeier J, Werner C, Westermann C, Ruckert C, Mirra V, Hjeij R, Memari Y, Durbin R, Kolb-Kokocinski A, Praveen K, Kashef MA, Kashef S, Eghtedari F, Häffner K, Valmari P, Baktai G, Aviram M, Bentur L, Amirav I, Davis EE, Katsanis N, Brueckner M, Shaposhnykov A, Pigino G, Dworniczak B, Omran H. DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes. Am J Respir Cell Mol Biol 2016;55:213-24. [PMID: 26909801 DOI: 10.1165/rcmb.2015-0353OC] [Cited by in Crossref: 69] [Cited by in F6Publishing: 47] [Article Influence: 13.8] [Reference Citation Analysis]
23 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]
24 Knowles MR, Daniels LA, Davis SD, Zariwala MA, Leigh MW. Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease. Am J Respir Crit Care Med. 2013;188:913-922. [PMID: 23796196 DOI: 10.1164/rccm.201301-0059ci] [Cited by in Crossref: 288] [Cited by in F6Publishing: 150] [Article Influence: 32.0] [Reference Citation Analysis]
25 Dunsky K, Menezes M, Ferkol TW. Advances in the Diagnosis and Treatment of Primary Ciliary Dyskinesia: A Review. JAMA Otolaryngol Head Neck Surg 2021. [PMID: 34137802 DOI: 10.1001/jamaoto.2021.0934] [Reference Citation Analysis]
26 Dai H, Wang D, Guang X, Zhang W. Pulmonary Hypertension in a Patient With Kartagener’s Syndrome and a Novel Homozygous Nonsense Mutation in CCDC40 Gene: A Case Report. Front Med 2022;9:860684. [DOI: 10.3389/fmed.2022.860684] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
27 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]
28 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]
29 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]
30 Hosie P, Fitzgerald DA, Jaffe A, Birman CS, Morgan L. Primary ciliary dyskinesia: overlooked and undertreated in children. J Paediatr Child Health 2014;50:952-8. [PMID: 24943508 DOI: 10.1111/jpc.12628] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 0.8] [Reference Citation Analysis]
31 Shoemark A, Frost E, Dixon M, Ollosson S, Kilpin K, Patel M, Scully J, Rogers AV, Mitchison HM, Bush A, Hogg C. Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia. Am J Respir Crit Care Med 2017;196:94-101. [PMID: 28199173 DOI: 10.1164/rccm.201607-1351OC] [Cited by in Crossref: 58] [Cited by in F6Publishing: 28] [Article Influence: 11.6] [Reference Citation Analysis]
32 Boon M, Jorissen M, Proesmans M, De Boeck K. Primary ciliary dyskinesia, an orphan disease. Eur J Pediatr. 2013;172:151-162. [PMID: 22777640 DOI: 10.1007/s00431-012-1785-6] [Cited by in Crossref: 55] [Cited by in F6Publishing: 55] [Article Influence: 5.5] [Reference Citation Analysis]
33 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]
34 Knowles MR, Ostrowski LE, Leigh MW, Sears PR, Davis SD, Wolf WE, Hazucha MJ, Carson JL, Olivier KN, Sagel SD. Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. Am J Respir Crit Care Med. 2014;189:707-717. [PMID: 24568568 DOI: 10.1164/rccm.201311-2047oc] [Cited by in Crossref: 131] [Cited by in F6Publishing: 69] [Article Influence: 16.4] [Reference Citation Analysis]
35 Mata M, Zurriaga J, Milian L, Reula A, Armengot M, Ruiz-Sauri A, Carda C. IFT46 Expression in the Nasal Mucosa of Primary Ciliary Dyskinesia Patients: Preliminary Study. Allergy Rhinol (Providence) 2021;12:2152656721989288. [PMID: 33628615 DOI: 10.1177/2152656721989288] [Reference Citation Analysis]
36 Wei X, Sha Y, Wei Z, Zhu X, He F, Zhang X, Liu W, Wang Y, Lu Z. Bi-allelic mutations in DNAH7 cause asthenozoospermia by impairing the integrality of axoneme structure. Acta Biochim Biophys Sin (Shanghai) 2021;53:1300-9. [PMID: 34476482 DOI: 10.1093/abbs/gmab113] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
37 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]
38 Schultz R, Elenius V, Lukkarinen H, Saarela T. Two novel mutations in the DNAH11 gene in primary ciliary dyskinesia (CILD7) with considerable variety in the clinical and beating cilia phenotype. BMC Med Genet 2020;21:237. [PMID: 33243178 DOI: 10.1186/s12881-020-01171-2] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
39 Horani A, Druley TE, Zariwala MA, Patel AC, Levinson BT, Van Arendonk LG, Thornton KC, Giacalone JC, Albee AJ, Wilson KS, Turner EH, Nickerson DA, Shendure J, Bayly PV, Leigh MW, Knowles MR, Brody SL, Dutcher SK, Ferkol TW. Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. Am J Hum Genet 2012;91:685-93. [PMID: 23040496 DOI: 10.1016/j.ajhg.2012.08.022] [Cited by in Crossref: 130] [Cited by in F6Publishing: 115] [Article Influence: 13.0] [Reference Citation Analysis]
40 Knowles MR, Zariwala M, Leigh M. Primary Ciliary Dyskinesia. Clin Chest Med 2016;37:449-61. [PMID: 27514592 DOI: 10.1016/j.ccm.2016.04.008] [Cited by in Crossref: 92] [Cited by in F6Publishing: 71] [Article Influence: 15.3] [Reference Citation Analysis]
41 Horani A, Ferkol TW. Advances in the Genetics of Primary Ciliary Dyskinesia: Clinical Implications. Chest 2018;154:645-52. [PMID: 29800551 DOI: 10.1016/j.chest.2018.05.007] [Cited by in Crossref: 52] [Cited by in F6Publishing: 40] [Article Influence: 13.0] [Reference Citation Analysis]
42 Schroeder JA. Application of laboratory and digital techniques for visual enhancement during the ultrastructural assessment of cilia. Ultrastructural Pathology 2017;41:399-407. [DOI: 10.1080/01913123.2017.1363335] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.2] [Reference Citation Analysis]
43 Jackson CL, Behan L, Collins SA, Goggin PM, Adam EC, Coles JL, Evans HJ, Harris A, Lackie P, Packham S, Page A, Thompson J, Walker WT, Kuehni C, Lucas JS. Accuracy of diagnostic testing in primary ciliary dyskinesia. Eur Respir J 2016;47:837-48. [PMID: 26647444 DOI: 10.1183/13993003.00749-2015] [Cited by in Crossref: 54] [Cited by in F6Publishing: 50] [Article Influence: 7.7] [Reference Citation Analysis]
44 Bustamante-Marin XM, Ostrowski LE. Cilia and Mucociliary Clearance. Cold Spring Harb Perspect Biol. 2017;9. [PMID: 27864314 DOI: 10.1101/cshperspect.a028241] [Cited by in Crossref: 183] [Cited by in F6Publishing: 156] [Article Influence: 36.6] [Reference Citation Analysis]
45 Sasaki K, Shiba K, Nakamura A, Kawano N, Satouh Y, Yamaguchi H, Morikawa M, Shibata D, Yanase R, Jokura K, Nomura M, Miyado M, Takada S, Ueno H, Nonaka S, Baba T, Ikawa M, Kikkawa M, Miyado K, Inaba K. Calaxin is required for cilia-driven determination of vertebrate laterality. Commun Biol 2019;2:226. [PMID: 31240264 DOI: 10.1038/s42003-019-0462-y] [Cited by in Crossref: 8] [Cited by in F6Publishing: 9] [Article Influence: 2.7] [Reference Citation Analysis]
46 Horani A, Brody SL, Ferkol TW. Response to Snijders et al. Pediatr Res 2014;76:322. [PMID: 24933009 DOI: 10.1038/pr.2014.80] [Cited by in Crossref: 1] [Article Influence: 0.1] [Reference Citation Analysis]
47 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]
48 Jorissen M, Jaspers M. Cilia, Ciliary Movement, and Mucociliary Transport. In: Önerci TM, editor. Nasal Physiology and Pathophysiology of Nasal Disorders. Berlin: Springer Berlin Heidelberg; 2013. pp. 15-25. [DOI: 10.1007/978-3-642-37250-6_2] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
49 Guan Y, Yang H, Yao X, Xu H, Liu H, Tang X, Hao C, Zhang X, Zhao S, Ge W, Ni X. Clinical and Genetic Spectrum of Children With Primary Ciliary Dyskinesia in China. Chest 2021;159:1768-81. [PMID: 33577779 DOI: 10.1016/j.chest.2021.02.006] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 3.0] [Reference Citation Analysis]
50 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]
51 Horani A, Ferkol TW. Primary ciliary dyskinesia and associated sensory ciliopathies. Expert Rev Respir Med 2016;10:569-76. [PMID: 26967669 DOI: 10.1586/17476348.2016.1165612] [Cited by in Crossref: 17] [Cited by in F6Publishing: 11] [Article Influence: 2.8] [Reference Citation Analysis]
52 Calender A, Rollat Farnier PA, Buisson A, Pinson S, Bentaher A, Lebecque S, Corvol H, Abou Taam R, Houdouin V, Bardel C, Roy P, Devouassoux G, Cottin V, Seve P, Bernaudin JF, Lim CX, Weichhart T, Valeyre D, Pacheco Y, Clement A, Nathan N; in the frame of GSF (Groupe Sarcoïdose France). Whole exome sequencing in three families segregating a pediatric case of sarcoidosis. BMC Med Genomics 2018;11:23. [PMID: 29510755 DOI: 10.1186/s12920-018-0338-x] [Cited by in Crossref: 14] [Cited by in F6Publishing: 15] [Article Influence: 3.5] [Reference Citation Analysis]
53 Hyland RM, Brody SL. Impact of Motile Ciliopathies on Human Development and Clinical Consequences in the Newborn. Cells 2021;11:125. [PMID: 35011687 DOI: 10.3390/cells11010125] [Reference Citation Analysis]
54 Vali R, Ghandourah H, Charron M, Nezhad KV, Omarkhail Y, Khazaee A, Shammas A, Dell SD. Evaluation of the pulmonary radioaerosol mucociliary clearance scan as an adjunctive test for the diagnosis of primary ciliary dyskinesia in children. Pediatr Pulmonol 2019;54:2021-7. [PMID: 31512814 DOI: 10.1002/ppul.24509] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
55 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]
56 Namavarian A, Eid A, Goh ES, Thakur V. A novel DNAH11 variant segregating in a sibship with heterotaxy and implications for genetic counseling. Mol Genet Genomic Med 2020;8:e1358. [PMID: 32633470 DOI: 10.1002/mgg3.1358] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
57 Shoemark A, Burgoyne T, Kwan R, Dixon M, Patel M, Rogers AV, Onoufriadis A, Scully J, Daudvohra F, Cullup T, Loebinger MR, Wilson R, Chung EM, Bush A, Mitchison HM, Hogg C. Primary ciliary dyskinesia with normal ultrastructure: three-dimensional tomography detects absence of DNAH11. Eur Respir J 2018;51:1701809. [DOI: 10.1183/13993003.01809-2017] [Cited by in Crossref: 22] [Cited by in F6Publishing: 20] [Article Influence: 5.5] [Reference Citation Analysis]
58 Dougherty GW, Mizuno K, Nöthe-Menchen T, Ikawa Y, Boldt K, Ta-Shma A, Aprea I, Minegishi K, Pang YP, Pennekamp P, Loges NT, Raidt J, Hjeij R, Wallmeier J, Mussaffi H, Perles Z, Elpeleg O, Rabert F, Shiratori H, Letteboer SJ, Horn N, Young S, Strünker T, Stumme F, Werner C, Olbrich H, Takaoka K, Ide T, Twan WK, Biebach L, Große-Onnebrink J, Klinkenbusch JA, Praveen K, Bracht DC, Höben IM, Junger K, Gützlaff J, Cindrić S, Aviram M, Kaiser T, Memari Y, Dzeja PP, Dworniczak B, Ueffing M, Roepman R, Bartscherer K, Katsanis N, Davis EE, Amirav I, Hamada H, Omran H. CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module. Nat Commun 2020;11:5520. [PMID: 33139725 DOI: 10.1038/s41467-020-19113-0] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
59 Zhang B, Ma H, Khan T, Ma A, Li T, Zhang H, Gao J, Zhou J, Li Y, Yu C, Bao J, Ali A, Murtaza G, Yin H, Gao Q, Jiang X, Zhang F, Liu C, Khan I, Zubair M, Hussain HMJ, Khan R, Yousaf A, Yuan L, Lu Y, Xu X, Wang Y, Tao Q, Hao Q, Fang H, Cheng H, Zhang Y, Shi Q. A DNAH17 missense variant causes flagella destabilization and asthenozoospermia. J Exp Med 2020;217:e20182365. [PMID: 31658987 DOI: 10.1084/jem.20182365] [Cited by in Crossref: 26] [Cited by in F6Publishing: 25] [Article Influence: 13.0] [Reference Citation Analysis]
60 Whitfield M, Thomas L, Bequignon E, Schmitt A, Stouvenel L, Montantin G, Tissier S, Duquesnoy P, Copin B, Chantot S, Dastot F, Faucon C, Barbotin AL, Loyens A, Siffroi JP, Papon JF, Escudier E, Amselem S, Mitchell V, Touré A, Legendre M. Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia. Am J Hum Genet 2019;105:198-212. [PMID: 31178125 DOI: 10.1016/j.ajhg.2019.04.015] [Cited by in Crossref: 75] [Cited by in F6Publishing: 65] [Article Influence: 25.0] [Reference Citation Analysis]
61 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]
62 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]
63 Kristof AS, Petrof BJ, Hamid Q, Kolb M, Landry JS, MacKenzie A, McCormack FX, Murawski IJ, Moss J, Rauch F, Rosas IO, Shapiro AJ, Smith BM, Thomas DY, Trapnell BC, Young LR, Zariwala MA; ATS Assembly on Respiratory Cell and Molecular Biology. An Official American Thoracic Society Workshop Report: Translational Research in Rare Respiratory Diseases. Ann Am Thorac Soc 2017;14:1239-47. [PMID: 28763267 DOI: 10.1513/AnnalsATS.201705-406WS] [Cited by in Crossref: 2] [Article Influence: 0.5] [Reference Citation Analysis]
64 Zhao X, Bian C, Liu K, Xu W, Liu Y, Tian X, Bai J, Xu KF, Zhang X. Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia. Orphanet J Rare Dis 2021;16:293. [PMID: 34210339 DOI: 10.1186/s13023-021-01840-2] [Reference Citation Analysis]
65 Precone V, Cannarella R, Paolacci S, Busetto GM, Beccari T, Stuppia L, Tonini G, Zulian A, Marceddu G, Calogero AE, Bertelli M. Male Infertility Diagnosis: Improvement of Genetic Analysis Performance by the Introduction of Pre-Diagnostic Genes in a Next-Generation Sequencing Custom-Made Panel. Front Endocrinol (Lausanne) 2020;11:605237. [PMID: 33574797 DOI: 10.3389/fendo.2020.605237] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
66 Tamalet A, Blanchon S. [Congenital ciliary dyskinesia. Focus]. Rev Pneumol Clin 2013;69:217-24. [PMID: 23871404 DOI: 10.1016/j.pneumo.2013.05.007] [Reference Citation Analysis]
67 Jackson CL, Goggin PM, Lucas JS. Ciliary beat pattern analysis below 37°C may increase risk of primary ciliary dyskinesia misdiagnosis. Chest 2012;142:543-4. [PMID: 22871779 DOI: 10.1378/chest.11-3253] [Cited by in Crossref: 16] [Cited by in F6Publishing: 12] [Article Influence: 1.6] [Reference Citation Analysis]
68 Agarwal A, Sharma R, Durairajanayagam D, Ayaz A, Cui Z, Willard B, Gopalan B, Sabanegh E. Major protein alterations in spermatozoa from infertile men with unilateral varicocele. Reprod Biol Endocrinol 2015;13:8. [PMID: 25890347 DOI: 10.1186/s12958-015-0007-2] [Cited by in Crossref: 47] [Cited by in F6Publishing: 44] [Article Influence: 6.7] [Reference Citation Analysis]
69 Pifferi M, Di Cicco M, Piras M, Cangiotti AM, Saggese G. Up to date on primary ciliary dyskinesia in children. Early Human Development 2013;89:S45-8. [DOI: 10.1016/j.earlhumdev.2013.07.022] [Cited by in Crossref: 7] [Cited by in F6Publishing: 5] [Article Influence: 0.8] [Reference Citation Analysis]
70 Liu Z, Nguyen QPH, Nanjundappa R, Delgehyr N, Megherbi A, Doherty R, Thompson J, Jackson C, Albulescu A, Heng YM, Lucas JS, Dell SD, Meunier A, Czymmek K, Mahjoub MR, Mennella V. Super-Resolution Microscopy and FIB-SEM Imaging Reveal Parental Centriole-Derived, Hybrid Cilium in Mammalian Multiciliated Cells. Dev Cell 2020;55:224-236.e6. [PMID: 33038333 DOI: 10.1016/j.devcel.2020.09.016] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 2.5] [Reference Citation Analysis]
71 Hausman-kedem M, Ben-shachar S, Menascu S, Geva K, Sagie L, Fattal-valevski A. VPS53 gene is associated with a new phenotype of complicated hereditary spastic paraparesis. Neurogenetics 2019;20:187-95. [DOI: 10.1007/s10048-019-00586-1] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 1.3] [Reference Citation Analysis]
72 Bieder A, Einarsdottir E, Matsson H, Nilsson HE, Eisfeldt J, Dragomir A, Paucar M, Granberg T, Li TQ, Lindstrand A, Kere J, Tapia-Páez I. Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report. BMC Med Genet 2020;21:87. [PMID: 32357925 DOI: 10.1186/s12881-020-01020-2] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
73 Coutton C, Escoffier J, Martinez G, Arnoult C, Ray PF. Teratozoospermia: spotlight on the main genetic actors in the human. Hum Reprod Update 2015;21:455-85. [PMID: 25888788 DOI: 10.1093/humupd/dmv020] [Cited by in Crossref: 140] [Cited by in F6Publishing: 128] [Article Influence: 20.0] [Reference Citation Analysis]
74 Kurkowiak M, Ziętkiewicz E, Witt M. Recent advances in primary ciliary dyskinesia genetics. J Med Genet 2015;52:1-9. [PMID: 25351953 DOI: 10.1136/jmedgenet-2014-102755] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
75 Chen W, Zhang Y, Shen L, Zhu J, Cai K, Lu Z, Zeng W, Zhao J, Zhou X. Biallelic DNAH9 mutations are identified in Chinese patients with defective left-right patterning and cilia-related complex congenital heart disease. Hum Genet 2022. [PMID: 35050399 DOI: 10.1007/s00439-021-02426-5] [Reference Citation Analysis]
76 Davis SD, Ferkol TW, Rosenfeld M, Lee HS, Dell SD, Sagel SD, Milla C, Zariwala MA, Pittman JE, Shapiro AJ, Carson JL, Krischer JP, Hazucha MJ, Cooper ML, Knowles MR, Leigh MW. Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype. Am J Respir Crit Care Med 2015;191:316-24. [PMID: 25493340 DOI: 10.1164/rccm.201409-1672OC] [Cited by in Crossref: 142] [Cited by in F6Publishing: 67] [Article Influence: 20.3] [Reference Citation Analysis]
77 Werner C, Onnebrink JG, Omran H. Diagnosis and management of primary ciliary dyskinesia. Cilia 2015;4:2. [PMID: 25610612 DOI: 10.1186/s13630-014-0011-8] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
78 Rubbo B, Lucas JS. Clinical care for primary ciliary dyskinesia: current challenges and future directions. Eur Respir Rev 2017;26:170023. [PMID: 28877972 DOI: 10.1183/16000617.0023-2017] [Cited by in Crossref: 23] [Cited by in F6Publishing: 16] [Article Influence: 4.6] [Reference Citation Analysis]
79 Mata M, Milian L, Armengot M, Carda C. Gene mutations in primary ciliary dyskinesia related to otitis media. Curr Allergy Asthma Rep 2014;14:420. [PMID: 24459089 DOI: 10.1007/s11882-014-0420-1] [Cited by in Crossref: 10] [Cited by in F6Publishing: 10] [Article Influence: 1.3] [Reference Citation Analysis]
80 Tate G. Whole-exome sequencing reveals a combination of extremely rare single-nucleotide polymorphism of DNAH9 and RSPH1 genes in a Japanese fetus with situs viscerum inversus. Med Mol Morphol 2021;54:275-80. [PMID: 34008076 DOI: 10.1007/s00795-021-00287-5] [Reference Citation Analysis]
81 Shoemark A, Harman K. Primary Ciliary Dyskinesia. Semin Respir Crit Care Med 2021;42:537-48. [PMID: 34261178 DOI: 10.1055/s-0041-1730919] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
82 Haarman EG, Schmidts M. Accuracy of diagnostic testing in primary ciliary dyskinesia: are we there yet? Eur Respir J 2016;47:699-701. [DOI: 10.1183/13993003.01914-2015] [Cited by in Crossref: 5] [Cited by in F6Publishing: 6] [Article Influence: 0.8] [Reference Citation Analysis]
83 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]
84 Leigh MW, Hazucha MJ, Chawla KK, Baker BR, Shapiro AJ, Brown DE, Lavange LM, Horton BJ, Qaqish B, Carson JL, Davis SD, Dell SD, Ferkol TW, Atkinson JJ, Olivier KN, Sagel SD, Rosenfeld M, Milla C, Lee HS, Krischer J, Zariwala MA, Knowles MR. Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia. Ann Am Thorac Soc 2013;10:574-81. [PMID: 24024753 DOI: 10.1513/AnnalsATS.201305-110OC] [Cited by in Crossref: 167] [Cited by in F6Publishing: 91] [Article Influence: 20.9] [Reference Citation Analysis]
85 Poprzeczko M, Bicka M, Farahat H, Bazan R, Osinka A, Fabczak H, Joachimiak E, Wloga D. Rare Human Diseases: Model Organisms in Deciphering the Molecular Basis of Primary Ciliary Dyskinesia. Cells 2019;8:E1614. [PMID: 31835861 DOI: 10.3390/cells8121614] [Cited by in Crossref: 11] [Cited by in F6Publishing: 8] [Article Influence: 3.7] [Reference Citation Analysis]
86 Horani A, Ferkol TW, Shoseyov D, Wasserman MG, Oren YS, Kerem B, Amirav I, Cohen-Cymberknoh M, Dutcher SK, Brody SL, Elpeleg O, Kerem E. LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects. PLoS One 2013;8:e59436. [PMID: 23527195 DOI: 10.1371/journal.pone.0059436] [Cited by in Crossref: 60] [Cited by in F6Publishing: 55] [Article Influence: 6.7] [Reference Citation Analysis]
87 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]
88 Horani A, Ferkol TW, Dutcher SK, Brody SL. Genetics and biology of primary ciliary dyskinesia. Paediatr Respir Rev 2016;18:18-24. [PMID: 26476603 DOI: 10.1016/j.prrv.2015.09.001] [Cited by in Crossref: 48] [Cited by in F6Publishing: 68] [Article Influence: 6.9] [Reference Citation Analysis]
89 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]
90 Takeuchi K, Kitano M, Ishinaga H, Kobayashi M, Ogawa S, Nakatani K, Masuda S, Nagao M, Fujisawa T. Recent advances in primary ciliary dyskinesia. Auris Nasus Larynx 2016;43:229-36. [PMID: 26527516 DOI: 10.1016/j.anl.2015.09.012] [Cited by in Crossref: 14] [Cited by in F6Publishing: 10] [Article Influence: 2.0] [Reference Citation Analysis]
91 Zhu D, Zhang H, Wang R, Liu X, Jiang Y, Feng T, Liu R, Zhang G. Association of DNAH11 gene polymorphisms with asthenozoospermia in Northeast Chinese patients. Biosci Rep 2019;39:BSR20181450. [PMID: 31160482 DOI: 10.1042/BSR20181450] [Cited by in Crossref: 4] [Cited by in F6Publishing: 1] [Article Influence: 1.3] [Reference Citation Analysis]
92 Paff T, Loges NT, Aprea I, Wu K, Bakey Z, Haarman EG, Daniels JMA, Sistermans EA, Bogunovic N, Dougherty GW, Höben IM, Große-Onnebrink J, Matter A, Olbrich H, Werner C, Pals G, Schmidts M, Omran H, Micha D. Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects. Am J Hum Genet 2017;100:160-8. [PMID: 28041644 DOI: 10.1016/j.ajhg.2016.11.019] [Cited by in Crossref: 101] [Cited by in F6Publishing: 82] [Article Influence: 20.2] [Reference Citation Analysis]
93 Sarkar S, Sujit KM, Singh V, Pandey R, Trivedi S, Singh K, Gupta G, Rajender S. Array-based DNA methylation profiling reveals peripheral blood differential methylation in male infertility. Fertility and Sterility 2019;112:61-72.e1. [DOI: 10.1016/j.fertnstert.2019.03.020] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 1.3] [Reference Citation Analysis]
94 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]
95 Blanchon S, Legendre M, Bottier M, Tamalet A, Montantin G, Collot N, Faucon C, Dastot F, Copin B, Clement A, Filoche M, Coste A, Amselem S, Escudier E, Papon J, Louis B. Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia. J Med Genet 2020;57:237-44. [DOI: 10.1136/jmedgenet-2019-106424] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 1.7] [Reference Citation Analysis]
96 Lucas JS, Davis SD, Omran H, Shoemark A. Primary ciliary dyskinesia in the genomics age. Lancet Respir Med 2020;8:202-16. [PMID: 31624012 DOI: 10.1016/S2213-2600(19)30374-1] [Cited by in Crossref: 45] [Cited by in F6Publishing: 21] [Article Influence: 15.0] [Reference Citation Analysis]
97 Reula A, Lucas J, Moreno-galdó A, Romero T, Milara X, Carda C, Mata-roig M, Escribano A, Dasi F, Armengot-carceller M. New insights in primary ciliary dyskinesia. Expert Opinion on Orphan Drugs 2017;5:537-48. [DOI: 10.1080/21678707.2017.1324780] [Cited by in Crossref: 11] [Cited by in F6Publishing: 3] [Article Influence: 2.2] [Reference Citation Analysis]
98 Deng H, Xia H, Deng S. Genetic basis of human left-right asymmetry disorders. Expert Rev Mol Med 2015;16:e19. [PMID: 26258520 DOI: 10.1017/erm.2014.22] [Cited by in Crossref: 33] [Cited by in F6Publishing: 27] [Article Influence: 4.7] [Reference Citation Analysis]
99 Funkhouser WK 3rd, Niethammer M, Carson JL, Burns KA, Knowles MR, Leigh MW, Zariwala MA, Funkhouser WK Jr. A new tool improves diagnostic test performance for transmission em evaluation of axonemal dynein arms. Ultrastruct Pathol 2014;38:248-55. [PMID: 23957500 DOI: 10.3109/01913123.2013.815081] [Cited by in Crossref: 8] [Cited by in F6Publishing: 7] [Article Influence: 0.9] [Reference Citation Analysis]
100 Catana A, Apostu AP. The determination factors of left-right asymmetry disorders- a short review. Clujul Med 2017;90:139-46. [PMID: 28559696 DOI: 10.15386/cjmed-701] [Cited by in Crossref: 2] [Cited by in F6Publishing: 4] [Article Influence: 0.4] [Reference Citation Analysis]
101 Raidt J, Wallmeier J, Hjeij R, Onnebrink JG, Pennekamp P, Loges NT, Olbrich H, Häffner K, Dougherty GW, Omran H, Werner C. Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. Eur Respir J 2014;44:1579-88. [PMID: 25186273 DOI: 10.1183/09031936.00052014] [Cited by in Crossref: 107] [Cited by in F6Publishing: 89] [Article Influence: 13.4] [Reference Citation Analysis]
102 Pierpont ME, Brueckner M, Chung WK, Garg V, Lacro RV, McGuire AL, Mital S, Priest JR, Pu WT, Roberts A, Ware SM, Gelb BD, Russell MW; American Heart Association Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; and Council on Genomic and Precision Medicine. Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association. Circulation 2018;138:e653-711. [PMID: 30571578 DOI: 10.1161/CIR.0000000000000606] [Cited by in Crossref: 125] [Cited by in F6Publishing: 60] [Article Influence: 41.7] [Reference Citation Analysis]
103 Antony D, Becker-Heck A, Zariwala MA, Schmidts M, Onoufriadis A, Forouhan M, Wilson R, Taylor-Cox T, Dewar A, Jackson C, Goggin P, Loges NT, Olbrich H, Jaspers M, Jorissen M, Leigh MW, Wolf WE, Daniels ML, Noone PG, Ferkol TW, Sagel SD, Rosenfeld M, Rutman A, Dixit A, O'Callaghan C, Lucas JS, Hogg C, Scambler PJ, Emes RD, Chung EM, Shoemark A, Knowles MR, Omran H, Mitchison HM; Uk10k. Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. Hum Mutat 2013;34:462-72. [PMID: 23255504 DOI: 10.1002/humu.22261] [Cited by in Crossref: 114] [Cited by in F6Publishing: 108] [Article Influence: 12.7] [Reference Citation Analysis]
104 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]
105 Werner C, Kouis P. Should transmission electron microscopy and ultrastructural cilia evaluation remain part of the diagnostic work-up for primary ciliary dyskinesia? Ultrastructural Pathology 2017;41:386-9. [DOI: 10.1080/01913123.2017.1362089] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.4] [Reference Citation Analysis]
106 Djenoune L, Berg K, Brueckner M, Yuan S. A change of heart: new roles for cilia in cardiac development and disease. Nat Rev Cardiol 2021. [PMID: 34862511 DOI: 10.1038/s41569-021-00635-z] [Reference Citation Analysis]
107 Mani R, Belkacem S, Soua Z, Chantot S, Montantin G, Tissier S, Copin B, Bouguila J, Rive Le Gouard N, Boughamoura L, Ben Ameur S, Hachicha M, Boussoffara R, Boussetta K, Hammouda S, Bedoui A, Besbes H, Meddeb S, Chraeit K, Khlifa M, Escudier E, Amselem S, Mabrouk I, Legendre M. Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele. Hum Mutat 2020;41:115-21. [PMID: 31469207 DOI: 10.1002/humu.23905] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 2.3] [Reference Citation Analysis]
108 Shapiro AJ, Leigh MW. Value of transmission electron microscopy for primary ciliary dyskinesia diagnosis in the era of molecular medicine: Genetic defects with normal and non-diagnostic ciliary ultrastructure. Ultrastruct Pathol 2017;41:373-85. [PMID: 28915070 DOI: 10.1080/01913123.2017.1362088] [Cited by in Crossref: 29] [Cited by in F6Publishing: 23] [Article Influence: 5.8] [Reference Citation Analysis]
109 Fedick AM, Jalas C, Treff NR, Knowles MR, Zariwala MA. Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population. Mol Genet Genomic Med 2015;3:137-42. [PMID: 25802884 DOI: 10.1002/mgg3.124] [Cited by in Crossref: 10] [Cited by in F6Publishing: 6] [Article Influence: 1.3] [Reference Citation Analysis]
110 Ijaz F, Ikegami K. Live cell imaging of dynamic behaviors of motile cilia and primary cilium. Microscopy 2019;68:99-110. [DOI: 10.1093/jmicro/dfy147] [Cited by in Crossref: 9] [Cited by in F6Publishing: 7] [Article Influence: 3.0] [Reference Citation Analysis]
111 Kurkowiak M, Ziętkiewicz E, Witt M. Recent advances in primary ciliary dyskinesia genetics. J Med Genet 2015;52:1-9. [PMID: 25351953 DOI: 10.1136/jmedgenet-2014-102755] [Cited by in Crossref: 63] [Cited by in F6Publishing: 55] [Article Influence: 7.9] [Reference Citation Analysis]
112 Schmidts M, Arts HH, Bongers EM, Yap Z, Oud MM, Antony D, Duijkers L, Emes RD, Stalker J, Yntema JB, Plagnol V, Hoischen A, Gilissen C, Forsythe E, Lausch E, Veltman JA, Roeleveld N, Superti-Furga A, Kutkowska-Kazmierczak A, Kamsteeg EJ, Elçioğlu N, van Maarle MC, Graul-Neumann LM, Devriendt K, Smithson SF, Wellesley D, Verbeek NE, Hennekam RC, Kayserili H, Scambler PJ, Beales PL, Knoers NV, Roepman R, Mitchison HM; UK10K. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. J Med Genet 2013;50:309-23. [PMID: 23456818 DOI: 10.1136/jmedgenet-2012-101284] [Cited by in Crossref: 92] [Cited by in F6Publishing: 77] [Article Influence: 10.2] [Reference Citation Analysis]
113 Knowles MR, Daniels LA, Davis SD, Zariwala MA, Leigh MW. Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease. Am J Respir Crit Care Med 2013;188:913-22. [PMID: 23796196 DOI: 10.1164/rccm.201301-0059CI] [Reference Citation Analysis]
114 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]
115 Zhu C, Yang Q, Xu J, Zhao W, Zhang Z, Xu D, Zhang Y, Zhao E, Zhao G. Somatic mutation of DNAH genes implicated higher chemotherapy response rate in gastric adenocarcinoma patients. J Transl Med 2019;17:109. [PMID: 30944005 DOI: 10.1186/s12967-019-1867-6] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 1.7] [Reference Citation Analysis]
116 Onoufriadis A, Paff T, Antony D, Shoemark A, Micha D, Kuyt B, Schmidts M, Petridi S, Dankert-Roelse JE, Haarman EG, Daniels JM, Emes RD, Wilson R, Hogg C, Scambler PJ, Chung EM, Pals G, Mitchison HM; UK10K. Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia. Am J Hum Genet 2013;92:88-98. [PMID: 23261303 DOI: 10.1016/j.ajhg.2012.11.002] [Cited by in Crossref: 131] [Cited by in F6Publishing: 114] [Article Influence: 14.6] [Reference Citation Analysis]
117 Boon M, Jorissen M, Proesmans M, De Boeck K. Primary ciliary dyskinesia, an orphan disease. Eur J Pediatr 2013;172:151-62. [PMID: 22777640 DOI: 10.1007/s00431-012-1785-6] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
118 Pereira R, Oliveira J, Sousa M. A molecular approach to sperm immotility in humans: A review. Medicina Reproductiva y Embriología Clínica 2014;1:15-25. [DOI: 10.1016/s2340-9320(15)30004-9] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
119 Fassad MR, Shoemark A, Legendre M, Hirst RA, Koll F, le Borgne P, Louis B, Daudvohra F, Patel MP, Thomas L, Dixon M, Burgoyne T, Hayes J, Nicholson AG, Cullup T, Jenkins L, Carr SB, Aurora P, Lemullois M, Aubusson-Fleury A, Papon JF, O'Callaghan C, Amselem S, Hogg C, Escudier E, Tassin AM, Mitchison HM. Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus. Am J Hum Genet 2018;103:984-94. [PMID: 30471717 DOI: 10.1016/j.ajhg.2018.10.016] [Cited by in Crossref: 65] [Cited by in F6Publishing: 57] [Article Influence: 16.3] [Reference Citation Analysis]
120 Loges NT, Antony D, Maver A, Deardorff MA, Güleç EY, Gezdirici A, Nöthe-Menchen T, Höben IM, Jelten L, Frank D, Werner C, Tebbe J, Wu K, Goldmuntz E, Čuturilo G, Krock B, Ritter A, Hjeij R, Bakey Z, Pennekamp P, Dworniczak B, Brunner H, Peterlin B, Tanidir C, Olbrich H, Omran H, Schmidts M. Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects. Am J Hum Genet 2018;103:995-1008. [PMID: 30471718 DOI: 10.1016/j.ajhg.2018.10.020] [Cited by in Crossref: 62] [Cited by in F6Publishing: 50] [Article Influence: 15.5] [Reference Citation Analysis]
121 Oltean A, Schaffer AJ, Bayly PV, Brody SL. Quantifying Ciliary Dynamics during Assembly Reveals Stepwise Waveform Maturation in Airway Cells. Am J Respir Cell Mol Biol 2018;59:511-22. [PMID: 29851510 DOI: 10.1165/rcmb.2017-0436OC] [Cited by in Crossref: 19] [Cited by in F6Publishing: 12] [Article Influence: 6.3] [Reference Citation Analysis]
122 Praveen K, Davis EE, Katsanis N. Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder. F1000Prime Rep 2015;7:36. [PMID: 25926987 DOI: 10.12703/P7-36] [Cited by in Crossref: 43] [Cited by in F6Publishing: 29] [Article Influence: 6.1] [Reference Citation Analysis]
123 Samia H, Khadija B, Agnes H, Fatma K, Ines T, Hafedh J, Faten T. Long-term outcome of Tunisian children with primary ciliary dyskinesia confirmed by transmission electron microscopy. Afr Health Sci 2016;16:954-61. [PMID: 28479887 DOI: 10.4314/ahs.v16i4.11] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 0.3] [Reference Citation Analysis]
124 Burnicka-Turek O, Steimle JD, Huang W, Felker L, Kamp A, Kweon J, Peterson M, Reeves RH, Maslen CL, Gruber PJ, Yang XH, Shendure J, Moskowitz IP. Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms. Hum Mol Genet 2016;25:3011-28. [PMID: 27340223 DOI: 10.1093/hmg/ddw155] [Cited by in Crossref: 13] [Cited by in F6Publishing: 20] [Article Influence: 2.2] [Reference Citation Analysis]
125 Mirra V, Werner C, Santamaria F. Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies. Front Pediatr 2017;5:135. [PMID: 28649564 DOI: 10.3389/fped.2017.00135] [Cited by in Crossref: 59] [Cited by in F6Publishing: 50] [Article Influence: 11.8] [Reference Citation Analysis]
126 Honoré I, Burgel PR. Primary ciliary dyskinesia in adults. Rev Mal Respir 2016;33:165-89. [PMID: 26654126 DOI: 10.1016/j.rmr.2015.10.743] [Cited by in Crossref: 14] [Cited by in F6Publishing: 12] [Article Influence: 2.0] [Reference Citation Analysis]
127 Lucas JS, Paff T, Goggin P, Haarman E. Diagnostic Methods in Primary Ciliary Dyskinesia. Paediatric Respiratory Reviews 2016;18:8-17. [DOI: 10.1016/j.prrv.2015.07.017] [Cited by in Crossref: 9] [Cited by in F6Publishing: 12] [Article Influence: 1.5] [Reference Citation Analysis]
128 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]
129 Daniels ML, Leigh MW, Davis SD, Armstrong MC, Carson JL, Hazucha M, Dell SD, Eriksson M, Collins FS, Knowles MR, Zariwala MA. Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia. Hum Mutat 2013;34:1352-6. [PMID: 23798057 DOI: 10.1002/humu.22371] [Cited by in Crossref: 34] [Cited by in F6Publishing: 31] [Article Influence: 3.8] [Reference Citation Analysis]
130 Werner C, Onnebrink JG, Omran H. Diagnosis and management of primary ciliary dyskinesia. Cilia 2015;4:2. [PMID: 25610612 DOI: 10.1186/s13630-014-0011-8] [Cited by in Crossref: 94] [Cited by in F6Publishing: 74] [Article Influence: 13.4] [Reference Citation Analysis]
131 Zariwala MA, Gee HY, Kurkowiak M, Al-Mutairi DA, Leigh MW, Hurd TW, Hjeij R, Dell SD, Chaki M, Dougherty GW, Adan M, Spear PC, Esteve-Rudd J, Loges NT, Rosenfeld M, Diaz KA, Olbrich H, Wolf WE, Sheridan E, Batten TF, Halbritter J, Porath JD, Kohl S, Lovric S, Hwang DY, Pittman JE, Burns KA, Ferkol TW, Sagel SD, Olivier KN, Morgan LC, Werner C, Raidt J, Pennekamp P, Sun Z, Zhou W, Airik R, Natarajan S, Allen SJ, Amirav I, Wieczorek D, Landwehr K, Nielsen K, Schwerk N, Sertic J, Köhler G, Washburn J, Levy S, Fan S, Koerner-Rettberg C, Amselem S, Williams DS, Mitchell BJ, Drummond IA, Otto EA, Omran H, Knowles MR, Hildebrandt F. ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. Am J Hum Genet 2013;93:336-45. [PMID: 23891469 DOI: 10.1016/j.ajhg.2013.06.007] [Cited by in Crossref: 142] [Cited by in F6Publishing: 118] [Article Influence: 15.8] [Reference Citation Analysis]
132 Boon M, Smits A, Cuppens H, Jaspers M, Proesmans M, Dupont LJ, Vermeulen FL, Van Daele S, Malfroot A, Godding V. Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure. Orphanet J Rare Dis. 2014;9:11. [PMID: 24450482 DOI: 10.1186/1750-1172-9-11] [Cited by in Crossref: 79] [Cited by in F6Publishing: 70] [Article Influence: 9.9] [Reference Citation Analysis]
133 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]
134 Kempeneers C, Seaton C, Chilvers MA. Variation of Ciliary Beat Pattern in Three Different Beating Planes in Healthy Subjects. Chest 2017;151:993-1001. [PMID: 27693596 DOI: 10.1016/j.chest.2016.09.015] [Cited by in Crossref: 18] [Cited by in F6Publishing: 17] [Article Influence: 3.0] [Reference Citation Analysis]
135 Ferkol T, Leigh MW. Primary Ciliary Dyskinesia. Kendig's Disorders of the Respiratory Tract in Children. Elsevier; 2019. pp. 1034-1043.e4. [DOI: 10.1016/b978-0-323-44887-1.00071-7] [Cited by in Crossref: 2] [Article Influence: 0.7] [Reference Citation Analysis]
136 Liu Z, Nguyen QPH, Guan Q, Albulescu A, Erdman L, Mahdaviyeh Y, Kang J, Ouyang H, Hegele RG, Moraes T, Goldenberg A, Dell SD, Mennella V. A quantitative super-resolution imaging toolbox for diagnosis of motile ciliopathies. Sci Transl Med 2020;12:eaay0071. [PMID: 32188719 DOI: 10.1126/scitranslmed.aay0071] [Cited by in Crossref: 9] [Cited by in F6Publishing: 7] [Article Influence: 9.0] [Reference Citation Analysis]