BPG is committed to discovery and dissemination of knowledge
Cited by in F6Publishing
For: 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]
Number Citing Articles
1 Liu Y, Lei C, Wang R, Yang D, Yang B, Xu Y, Lu C, Wang L, Ding S, Guo T, Liu S, Luo H. Case Report: Whole-Exome Sequencing-Based Copy Number Variation Analysis Identified a Novel DRC1 Homozygous Exon Deletion in a Patient With Primary Ciliary Dyskinesia. Front Genet 2022;13:940292. [PMID: 35873463 DOI: 10.3389/fgene.2022.940292] [Reference Citation Analysis]
2 Guo T, Lu C, Yang D, Lei C, Liu Y, Xu Y, Yang B, Wang R, Luo H. Case Report: DNAAF4 Variants Cause Primary Ciliary Dyskinesia and Infertility in Two Han Chinese Families. Front Genet 2022;13:934920. [DOI: 10.3389/fgene.2022.934920] [Reference Citation Analysis]
3 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]
4 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]
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 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]
7 O'Connor MG, Horani A, Shapiro AJ. Progress in Diagnosing Primary Ciliary Dyskinesia: The North American Perspective. Diagnostics (Basel) 2021;11:1278. [PMID: 34359360 DOI: 10.3390/diagnostics11071278] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
8 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] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
9 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: 10] [Article Influence: 9.0] [Reference Citation Analysis]
10 Hao C, Guo R, Liu J, Hu X, Guo J, Yao Y, Zhao Z, Qi Z, Yin J, Chen L, Wang H, Xu B, Li W. Exome sequencing as the first-tier test for pediatric respiratory diseases: A single-center study. Hum Mutat 2021;42:891-900. [PMID: 33942430 DOI: 10.1002/humu.24216] [Reference Citation Analysis]
11 Backman K, Mears WE, Waheeb A, Beaulieu Bergeron M, McClintock J, de Nanassy J, Reisman J, Osmond M, Hartley T, Mears AJ, Kernohan KD; Care4Rare Canada. A splice site and copy number variant responsible for TTC25-related primary ciliary dyskinesia. Eur J Med Genet 2021;64:104193. [PMID: 33746037 DOI: 10.1016/j.ejmg.2021.104193] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
12 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]
13 Gileles-Hillel A, Mor-Shaked H, Shoseyov D, Reiter J, Tsabari R, Hevroni A, Cohen-Cymberknoh M, Amirav I, Brammli-Greenberg S, Horani A, Kerem E, Breuer O. Whole-exome sequencing accuracy in the diagnosis of primary ciliary dyskinesia. ERJ Open Res 2020;6:00213-2020. [PMID: 33447612 DOI: 10.1183/23120541.00213-2020] [Cited by in Crossref: 2] [Cited by in F6Publishing: 5] [Article Influence: 1.0] [Reference Citation Analysis]
14 Legendre M, Zaragosi LE, Mitchison HM. Motile cilia and airway disease. Semin Cell Dev Biol 2021;110:19-33. [PMID: 33279404 DOI: 10.1016/j.semcdb.2020.11.007] [Cited by in Crossref: 15] [Cited by in F6Publishing: 11] [Article Influence: 7.5] [Reference Citation Analysis]
15 Michalik M, Samet A, Dmowska-Koroblewska A, Podbielska-Kubera A, Waszczuk-Jankowska M, Struck-Lewicka W, Markuszewski MJ. An Overview of the Application of Systems Biology in an Understanding of Chronic Rhinosinusitis (CRS) Development. J Pers Med 2020;10:E245. [PMID: 33255995 DOI: 10.3390/jpm10040245] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
16 Coles JL, Thompson J, Horton KL, Hirst RA, Griffin P, Williams GM, Goggin P, Doherty R, Lackie PM, Harris A, Walker WT, O'Callaghan C, Hogg C, Lucas JS, Blume C, Jackson CL. A Revised Protocol for Culture of Airway Epithelial Cells as a Diagnostic Tool for Primary Ciliary Dyskinesia. J Clin Med 2020;9:E3753. [PMID: 33233428 DOI: 10.3390/jcm9113753] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
17 Kanzi AM, San JE, Chimukangara B, Wilkinson E, Fish M, Ramsuran V, de Oliveira T. Next Generation Sequencing and Bioinformatics Analysis of Family Genetic Inheritance. Front Genet 2020;11:544162. [PMID: 33193618 DOI: 10.3389/fgene.2020.544162] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
18 Zhou L, Li Z, Du C, Chen C, Sun Y, Gu L, Zhou F, Song Y. Novel dynein axonemal assembly factor 1 mutations identified using whole‑exome sequencing in patients with primary ciliary dyskinesia. Mol Med Rep 2020;22:4707-15. [PMID: 33174003 DOI: 10.3892/mmr.2020.11562] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
19 Shamseldin HE, Al Mogarri I, Alqwaiee MM, Alharbi AS, Baqais K, AlSaadi M, AlAnzi T, Alhashem A, Saghier A, Ameen W, Ibrahim N, Yang J, Abdulwahab F, Hashem M, Chivukula RR, Alkuraya FS. An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia. Hum Genet 2020;139:1273-83. [PMID: 32367404 DOI: 10.1007/s00439-020-02170-2] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
20 Takeuchi K, Xu Y, Kitano M, Chiyonobu K, Abo M, Ikegami K, Ogawa S, Ikejiri M, Kondo M, Gotoh S, Nagao M, Fujisawa T, Nakatani K. Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population. Mol Genet Genomic Med 2020;8:e1137. [PMID: 31960620 DOI: 10.1002/mgg3.1137] [Cited by in Crossref: 4] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
21 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: 24] [Article Influence: 4.7] [Reference Citation Analysis]
22 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]
23 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]
24 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]
25 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]
26 Cariati F, D'Argenio V, Tomaiuolo R. The evolving role of genetic tests in reproductive medicine. J Transl Med 2019;17:267. [PMID: 31412890 DOI: 10.1186/s12967-019-2019-8] [Cited by in Crossref: 24] [Cited by in F6Publishing: 30] [Article Influence: 8.0] [Reference Citation Analysis]
27 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]
28 Yiallouros PK, Kouis P, Pirpa P, Michailidou K, Loizidou MA, Potamiti L, Kalyva M, Koutras G, Kyriacou K, Hadjisavvas A. Wide phenotypic variability in RSPH9-associated primary ciliary dyskinesia: review of a case-series from Cyprus. J Thorac Dis 2019;11:2067-75. [PMID: 31285900 DOI: 10.21037/jtd.2019.04.71] [Cited by in Crossref: 8] [Cited by in F6Publishing: 9] [Article Influence: 2.7] [Reference Citation Analysis]
29 Wheway G, Mitchison HM; Genomics England Research Consortium. Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project. Front Genet 2019;10:127. [PMID: 30915099 DOI: 10.3389/fgene.2019.00127] [Cited by in Crossref: 27] [Cited by in F6Publishing: 23] [Article Influence: 9.0] [Reference Citation Analysis]
30 Rubbo B, Shoemark A, Jackson CL, Hirst R, Thompson J, Hayes J, Frost E, Copeland F, Hogg C, O'Callaghan C, Reading I, Lucas JS; National PCD Service, UK. Accuracy of High-Speed Video Analysis to Diagnose Primary Ciliary Dyskinesia. Chest 2019;155:1008-17. [PMID: 30826306 DOI: 10.1016/j.chest.2019.01.036] [Cited by in Crossref: 32] [Cited by in F6Publishing: 30] [Article Influence: 10.7] [Reference Citation Analysis]
31 Yoo F, Suh JD. What is the evidence for genetics in chronic rhinosinusitis? Curr Opin Otolaryngol Head Neck Surg 2017;25:54-63. [PMID: 27841768 DOI: 10.1097/MOO.0000000000000329] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 1.3] [Reference Citation Analysis]
32 Contarini M, Shoemark A, Rademacher J, Finch S, Gramegna A, Gaffuri M, Roncoroni L, Seia M, Ringshausen FC, Welte T, Blasi F, Aliberti S, Chalmers JD. Why, when and how to investigate primary ciliary dyskinesia in adult patients with bronchiectasis. Multidiscip Respir Med 2018;13:26. [PMID: 30151188 DOI: 10.1186/s40248-018-0143-6] [Cited by in Crossref: 13] [Cited by in F6Publishing: 15] [Article Influence: 3.3] [Reference Citation Analysis]
33 Dalrymple RA, Kenia P. European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia: a guideline review. Arch Dis Child Educ Pract Ed 2019;104:265-9. [PMID: 30076157 DOI: 10.1136/archdischild-2017-312902] [Cited by in Crossref: 6] [Cited by in F6Publishing: 12] [Article Influence: 1.5] [Reference Citation Analysis]
34 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: 21] [Article Influence: 5.0] [Reference Citation Analysis]
35 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]
36 Leigh MW, Ferkol TW, Davis SD, Lee HS, Rosenfeld M, Dell SD, Sagel SD, Milla C, Olivier KN, Sullivan KM, Zariwala MA, Pittman JE, Shapiro AJ, Carson JL, Krischer J, Hazucha MJ, Knowles MR. Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents. Ann Am Thorac Soc 2016;13:1305-13. [PMID: 27070726 DOI: 10.1513/AnnalsATS.201511-748OC] [Cited by in Crossref: 81] [Cited by in F6Publishing: 42] [Article Influence: 20.3] [Reference Citation Analysis]
37 Harper JC, Aittomäki K, Borry P, Cornel MC, de Wert G, Dondorp W, Geraedts J, Gianaroli L, Ketterson K, Liebaers I, Lundin K, Mertes H, Morris M, Pennings G, Sermon K, Spits C, Soini S, van Montfoort APA, Veiga A, Vermeesch JR, Viville S, Macek M Jr; European Society of Human Reproduction and Embryology and European Society of Human Genetics. Recent developments in genetics and medically-assisted reproduction: from research to clinical applications†‡. Hum Reprod Open 2017;2017:hox015. [PMID: 31486804 DOI: 10.1093/hropen/hox015] [Cited by in Crossref: 6] [Cited by in F6Publishing: 1] [Article Influence: 1.2] [Reference Citation Analysis]
38 Harper JC, Aittomäki K, Borry P, Cornel MC, de Wert G, Dondorp W, Geraedts J, Gianaroli L, Ketterson K, Liebaers I, Lundin K, Mertes H, Morris M, Pennings G, Sermon K, Spits C, Soini S, van Montfoort APA, Veiga A, Vermeesch JR, Viville S, Macek M Jr; on behalf of the European Society of Human Reproduction and Embryology and European Society of Human Genetics. Recent developments in genetics and medically assisted reproduction: from research to clinical applications. Eur J Hum Genet 2018;26:12-33. [PMID: 29199274 DOI: 10.1038/s41431-017-0016-z] [Cited by in Crossref: 42] [Cited by in F6Publishing: 49] [Article Influence: 8.4] [Reference Citation Analysis]
39 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]
40 Harris A. Diagnosis and management of children with primary ciliary dyskinesia. Nursing Children and Young People 2017;29:38-47. [DOI: 10.7748/ncyp.2017.e936] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.4] [Reference Citation Analysis]
41 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: 21] [Article Influence: 3.2] [Reference Citation Analysis]
42 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: 268] [Article Influence: 50.8] [Reference Citation Analysis]
43 Everard ML. Paediatric respiratory infections. Eur Respir Rev 2016;25:36-40. [PMID: 26929419 DOI: 10.1183/16000617.0084-2015] [Cited by in Crossref: 16] [Cited by in F6Publishing: 17] [Article Influence: 2.7] [Reference Citation Analysis]
44 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]
45 Ha S, Lindsay AM, Timms AE, Beier DR. Mutations in Dnaaf1 and Lrrc48 Cause Hydrocephalus, Laterality Defects, and Sinusitis in Mice. G3 (Bethesda) 2016;6:2479-87. [PMID: 27261005 DOI: 10.1534/g3.116.030791] [Cited by in Crossref: 19] [Cited by in F6Publishing: 17] [Article Influence: 3.2] [Reference Citation Analysis]