Whole genome sequencing in the diagnosis of primary ciliary dyskinesia

[1] O’Callaghan C(2010)High prevalence of primary ciliary dyskinesia in a British Asian population Arch Dis Child 95 51-1258

[2] Chetcuti P(2010)Factors influencing age at diagnosis of primary ciliary dyskinesia in European children Eur Respir J 36 1248-1107

[3] Moya E(2016)Diagnosing primary ciliary dyskinesia: an international patient perspective Eur Respir J 48 1096-e39

[4] Kuehni CE(2018)Diagnosis of primary ciliary dyskinesia an official american thoracic society clinical practice guideline Am J Respir Crit Care Med. 197 e24-330

[5] Frischer T(2020)Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort J Med Genet 57 322-1034

[6] Strippoli MP(2019)Accuracy of high-speed video analysis to diagnose primary ciliary dyskinesia Response Chest 156 1033-1017

[7] Maurer E(2019)Why, when and how to investigate primary ciliary dyskinesia in adult patients with bronchiectasis Chest 155 1008-424

[8] Bush A(2018)Opportunities and challenges for molecular understanding of ciliopathies-The 100,000 genomes project Multidiscip Respiratory Med 13 26-848

[9] Nielsen KG(2019)Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Front Genet 10 127-101

[10] Behan L(2015)Accuracy of diagnostic testing in primary ciliary dyskinesia Genet Med 17 405-1565

[1] O’Callaghan C(2010)High prevalence of primary ciliary dyskinesia in a British Asian population Arch Dis Child 95 51-1258

[2] Chetcuti P(2010)Factors influencing age at diagnosis of primary ciliary dyskinesia in European children Eur Respir J 36 1248-1107

[3] Moya E(2016)Diagnosing primary ciliary dyskinesia: an international patient perspective Eur Respir J 48 1096-e39

[4] Kuehni CE(2018)Diagnosis of primary ciliary dyskinesia an official american thoracic society clinical practice guideline Am J Respir Crit Care Med. 197 e24-330

[5] Frischer T(2020)Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort J Med Genet 57 322-1034

[6] Strippoli MP(2019)Accuracy of high-speed video analysis to diagnose primary ciliary dyskinesia Response Chest 156 1033-1017

[7] Maurer E(2019)Why, when and how to investigate primary ciliary dyskinesia in adult patients with bronchiectasis Chest 155 1008-424

[8] Bush A(2018)Opportunities and challenges for molecular understanding of ciliopathies-The 100,000 genomes project Multidiscip Respiratory Med 13 26-848

[9] Nielsen KG(2019)Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Front Genet 10 127-101

[10] Behan L(2015)Accuracy of diagnostic testing in primary ciliary dyskinesia Genet Med 17 405-1565