Lucas JS, Davis SD, Omran H, Shoemark A. Primary ciliary dyskinesia in the genomics age. Lancet Respir Med. 2020;8:202–16.

Article  CAS  PubMed  Google Scholar 

Leigh MW, Ferkol TW, Davis SD, Lee HS, Rosenfeld M, Dell SD, et al. Clinical features and associated likelihood of primary ciliary dyskinesia in children and adolescents. Ann Am Thorac Soc. 2016;13:1305–13.

Article  PubMed  PubMed Central  Google Scholar 

Kuehni CE, Frischer T, Strippoli MPF, Maurer E, Bush A, Nielsen KG, et al. Factors influencing age at diagnosis of primary ciliary dyskinesia in European children. Eur Respir J. 2010;36:1248–58. https://erj.ersjournals.com/content/36/6/1248

Article  CAS  PubMed  Google Scholar 

Asfuroglu P, Ramasli Gursoy T, Sismanlar Eyuboglu T, Aslan AT. Evaluation of age at diagnosis and clinical findings of children with primary ciliary dyskinesia. Pediatr Pulmonol. 2021;56:2717–23.

Article  PubMed  Google Scholar 

Shapiro AJ, Zariwala MA, Ferkol T, Davis SD, Sagel SD, Dell SD, et al. Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review. Pediatr Pulmonol. 2016;51:115.

Article  PubMed  Google Scholar 

Lucas JS, Barbato A, Collins SA, Goutaki M, Behan L, Caudri D, et al. European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia. Eur Respir J. 2017;49:1601090.

Article  PubMed  PubMed Central  Google Scholar 

Lucas JS, Barbato A, Collins SA, Goutaki M, Behan L, Caudri D, et al. ERS Task Force guideline for the diagnosis of primary ciliary dyskinesia. Eur Respir J. 2017;49.

Shapiro AJ, Davis SD, Polineni D, Manion M, Rosenfeld M, Dell SD, et al. Diagnosis of primary ciliary dyskinesia: An official American thoracic society clinical practice guideline. Am J Respir Crit Care Med. 2018;197:e24–39.

Article  PubMed  PubMed Central  Google Scholar 

Simoneau T, Zandieh SO, Rao DR, Phuong VO, Palm KE, McCown M, et al. Impact of cilia ultrastructural examination on the diagnosis of primary ciliary dyskinesia. Pediatr Dev Pathol. 2013;16:321–6.

Article  PubMed  Google Scholar 

Shapiro AJ, Leigh MW. The 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.

Article  PubMed  PubMed Central  Google Scholar 

Kouis P, Yiallouros PK, Middleton N, Evans JS, Kyriacou K, Papatheodorou SI. Prevalence of primary ciliary dyskinesia in consecutive referrals of suspect cases and the transmission electron microscopy detection rate: a systematic review and meta-analysis. Pediatr Res. 2017;81:398–405. https://www.nature.com/articles/pr2016263

Article  CAS  PubMed  Google Scholar 

Shoemark A, Boon M, Brochhausen C, Bukowy-Bieryllo Z, de Santi MM, Goggin P, et al. International consensus guideline for reporting transmission electron microscopy results in the diagnosis of primary ciliary dyskinesia (BEAT PCD TEM Criteria). Eur Respir J. 2020 https://erj.ersjournals.com/content/55/4/1900725

Shapiro AJ, Josephson M, Rosenfeld M, Yilmaz O, Davis SD, Polineni D, et al. Accuracy of nasal nitric oxide measurement as a diagnostic test for primary ciliary dyskinesia a systematic review and meta-analysis. Ann Am Thorac Soc. 2017;14:1184–96.

PubMed  PubMed Central  Google Scholar 

Leigh MW, Hazucha MJ, Chawla KK, Baker BR, Shapiro AJ, Brown DE, et al. Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia. Ann Am Thorac Soc. 2013;10:574–81.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Shapiro AJ, Dell SD, Gaston B, O’Connor M, Marozkina N, Manion M. et al. Nasal nitric oxide measurement in primary ciliary dyskinesia. A technical paper on standardized testing protocols. Ann Am Thorac Soc. 2020;17:E1–12. https://doi.org/10.1513/AnnalsATS.201904-347OT.

Article  PubMed  PubMed Central  Google Scholar 

Raidt J, Krenz H, Tebbe J, Große-Onnebrink J, Olbrich H, Loges NT, et al. Limitations of nasal nitric oxide measurement for diagnosis of primary ciliary dyskinesia with normal ultrastructure. Ann Am Thorac Soc. 2022;19:1275–84.

Article  PubMed  Google Scholar 

Marthin JK, Philipsen MC, Rosthoj S, Nielsen KG. Infant nasal nitric oxide over time: natural evolution and impact of respiratory tract infection. Eur Respir J. 2018;51:1702503. https://erj.ersjournals.com/content/51/6/1702503

Article  PubMed  Google Scholar 

Primary Ciliary Dyskinesia - GeneReviews® - NCBI Bookshelf [Internet]. 2019. https://www.ncbi.nlm.nih.gov/books/NBK1122/

Zariwala MA, Knowles MR, Leigh MW. Primary ciliary dyskinesia. 2019. https://www.ncbi.nlm.nih.gov/books/NBK1122/

Marshall CR, Scherer SW, Zariwala MA, Lau L, Paton TA, Stockley T, et al. Whole-exome sequencing and targeted copy number analysis in primary ciliary dyskinesia. G3 Genes Genomes Genet. 2015;5:1775–81.

Article  Google Scholar 

Daniels MLA, Leigh MW, Davis SD, Armstrong MC, Carson JL, Hazucha M, et al. Founder mutation in RSPH4A identified in patients of hispanic descent with primary ciliary dyskinesia. Hum Mutat. 2013;34:1352.

Article  CAS  PubMed  PubMed Central  Google Scholar 

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 Genom Med. 2015;3:137.

Article  CAS  Google Scholar 

O’Callaghan C, Chetcuti P, Moya E. High prevalence of primary ciliary dyskinesia in a British Asian population. Arch Dis Child. 2010;95:51–2. https://adc.bmj.com/content/95/1/51

Article  PubMed  Google Scholar 

Ferkol TW, Puffenberger EG, Lie H, Helms C, Strauss KA, Bowcock A, et al. Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities. J Pediatr. 2013;163:383–87.

Casey JP, McGettigan PA, Healy F, Hogg C, Reynolds A, Kennedy BN, et al. Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population. Eur J Hum Genet. 2015;23:210.

Article  CAS  PubMed  Google Scholar 

Poplawska K, Griffiths A, Temme R, Adamko DJ, Nykamp K, Shapiro AJ. Deletions in DNAL1 cause primary ciliary dyskinesia across North American indigenous populations. J Pediatr. 2023;261. http://www.jpeds.com/article/S002234762300121X/fulltext

Hunter-Schouela J, Geraghty MT, Hegele RA, Dyment DA, St Pierre D, Richer J, et al. First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit. Pediatr Pulmonol. 2023;58:1942.

Article  PubMed  PubMed Central  Google Scholar 

Davis SD, Rosenfeld M, Lee HS, Ferkol TW, Sagel SD, Dell SD, et al. Primary ciliary dyskinesia: longitudinal study of lung disease by ultrastructure defect and genotype. Am J Respir Crit Care Med. 2019;199:190–8.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Davis SD, Ferkol TW, Rosenfeld M, Lee HS, Dell SD, Sagel SD, et al. Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype. Am J Respir Crit Care Med. 2015;191:316–24.

Article  PubMed  PubMed Central  Google Scholar 

Kinghorn BA, Rosenfeld M, Sullivan E, Onchiri F, Ferkol TW, Sagel SD, et al. Airway disease in children with primary ciliary dyskinesia: impact of ciliary ultrastructure defect and genotype. Ann Am Thorac Soc. 2023;20:539–47.

Article  PubMed  PubMed Central  Google Scholar 

Machogu E, Gaston B. Respiratory distress in the newborn with primary ciliary dyskinesia. Child. 2021;8:153.

Article  Google Scholar 

Abou Alaiwa M, Hilkin B, Jain A, Philibert WJ, Price M, Rector M, et al. Disruption of the DNAI1 gene in pigs produces a model of primary ciliary dyskinesia. American Thoracic Society International Conference Meetings Abstracts. 2024;A7263–A7263. www.atsjournals.org

Mullowney T, Manson D, Kim R, Stephens D, Shah V, Dell S. Primary ciliary dyskinesia and neonatal respiratory distress. Pediatrics. 2014;134:1160–6.

Article  PubMed  PubMed Central  Google Scholar 

Wee WB, Leigh MW, Davis SD, Rosenfeld M, Sullivan KM, Sawras MG, et al. Association of neonatal hospital length of stay with lung function in primary ciliary dyskinesia. Ann Am Thorac Soc. 2022;19:1865–70.

Article  PubMed  PubMed Central  Google Scholar 

Shoemark A, Rubbo B, Legendre M, Fassad MR, Haarman EG, Best S, et al. Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia. Eur Respir J. 2021;58:28. https://erj.ersjournals.com/content/58/2/2002359

Article  Google Scholar 

Best S, Shoemark A, Rubbo B, Patel MP, Fassad MR, Dixon M, et al. Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia. Thorax. 2019;74:203–5. https://thorax.bmj.com/content/74/2/203

Article