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Research Publications

Airway Inflammation in Children with Primary Ciliary Dyskinesia. Sagel SD, Kupfer O, Wagner BD, Davis SD, Dell SD, Ferkol TW, Hoppe JE, Rosenfeld M, Sullivan KM, Tiddens HAWM, Knowles MR, Leigh MW. Ann Am Thorac Soc. 2023 Jan;20(1):67-74. doi: 10.1513/AnnalsATS.202204-314OC. PMID: 35984413; PMCID: PMC9819265.

Primary ciliary dyskinesia (PCD) is an inherited condition in which mucociliary clearance of the lungs is impaired. In this disorder, cilia (hairlike structures) lining the airway, sinuses, and middle ears have defective movements, leading to accumulation of harmful particles and pathogens trapped within mucus. Currently, not much is known about the role of airway inflammation in the development of PCD in children. In this study, researchers investigated the relationships between sputum (mucus) inflammation measurements, age, lung function, bronchiectasis, airway infection, and ultrastructural defects in children with PCD. The team collected spontaneously expectorated sputum from clinically stable children and adolescents with PCD ages six years and older. Next, the team correlated sputum protease and inflammatory cytokine concentrations with age, lung function, and chest computed tomography measures of structural lung disease. Results show that in this multicenter cohort of pediatric patients with PCD, elevated concentrations of sputum proteases and cytokines were associated with impaired lung function and structural damage as determined by chest computed tomography. These results establish an important linkage between airway inflammation and lung disease in PCD. Authors note that these findings also suggest sputum inflammatory measurements could serve as biomarkers in PCD and could be used to assess the efficacy of anti-inflammatory therapies.

HYDIN Variants Are a Common Cause of Primary Ciliary Dyskinesia in French Canadians. Shapiro AJ, Sillon G, D'Agostino D, Baret L, López-Giráldez F, Mane S, Leigh MW, Davis SD, Knowles MR, Zariwala MA. Ann Am Thorac Soc. 2023 Jan;20(1):140-144. doi: 10.1513/AnnalsATS.202203-253RL. PMID: 36112114; PMCID: PMC9819264.

Primary ciliary dyskinesia (PCD) is a genetic disorder in which mucociliary clearance of the lungs is impaired. In the past two decades, more than 50 PCD-related genes have been discovered. However, most commercial genetic panels do not include variant analysis of the large, complex PCD gene HYDIN. In this letter to the editor, researchers discuss a study of 28 patients in 21 families with probable but undiagnosed PCD from the PCD clinic at McGill University Health Centre in Montreal, Quebec, Canada. To investigate whether HYDIN played a role in these unsolved cases, the team utilized whole-exome sequencing and next-generation sequencing analyses. Results show that pathogenic variants in HYDIN aided diagnosis in six of 21 families with previously unsolved PCD. These findings show that HYDIN variants are responsible for a large percentage of PCD in Quebec. Although it is not clear if increased HYDIN prevalence will be observed in populations outside of Quebec, authors state that transitioning to commercial panels that analyze HYDIN seems critical to accurately diagnose patients with PCD.

Laterality Defects in Primary Ciliary Dyskinesia: Relationship to Ultrastructural Defect or Genotype. Barber AT, Shapiro AJ, Davis SD, Ferkol TW, Atkinson JJ, Sagel SD, Dell SD, Olivier KN, Milla CE, Rosenfeld M, Li L, Lin FC, Sullivan KM, Capps NA, Zariwala MA, Knowles MR, Leigh MW. Ann Am Thorac Soc. 2023 Mar;20(3):397-405. doi: 10.1513/AnnalsATS.202206-487OC. PMID: 36342963; PMCID: PMC9993158.

Primary ciliary dyskinesia (PCD) is an inherited disorder which affects the movement of tiny hair-like structures on body cells known as cilia, impairing mucociliary clearance of the lungs. Approximately 50 percent of PCD patients have a laterality defect (right-left placement of organs in the chest and abdomen) attributable to impaired ciliary motility in the early embryo. The association between abnormalities in organ laterality and the PCD-associated defect of ciliary ultrastructure (fine, detailed structure) or genotype is not well understood.

In this study, researchers investigated the association between presence and/or type of laterality abnormality and ciliary ultrastructural defect or genotype in PCD. First, the team grouped 559 participants with PCD based on ciliary ultrastructural defect or genotype. Next, researchers analyzed the data to evaluate the association of ciliary ultrastructural defect or genotype and likelihood of a laterality abnormality.

Results show that in patients with PCD, risk of a laterality abnormality differs by ciliary ultrastructural defect. Authors note that further research is needed to understand the pathophysiologic mechanisms underlying these differences.

Primary ciliary dyskinesia: An update on contemporary diagnosis. Chaskes MB, Lopez EM, Kong KA, Ebert CS Jr, Senior BA, Thorp BD, Kimple AJ. Int Forum Allergy Rhinol. 2023 Aug 11. doi: 10.1002/alr.23254. Epub ahead of print. PMID: 37565263

Primary ciliary dyskinesia (PCD) is an inherited condition in which mucociliary clearance of the lungs is impaired. Symptoms include chronic sinusitis, frequent respiratory and middle ear infections, hearing loss, chronic cough, severe lung damage, and bronchiectasis (irreversible scarring and dilation of the bronchi).

Individuals with PCD often receive a delayed diagnosis due to multiple factors, including the commonality of symptoms, variability of severity, number of clinicians involved in their care, limitations of diagnostic tests, and lack of standards. Both diagnosed and undiagnosed individuals with PCD require frequent care of the ear, nose, and throat (ENT). However, there is limited published guidance for the proper diagnosis of PCD.  

This clinical letter for ENT clinicians educates ENTs about modern diagnostic criteria and considerations through two cases: a new diagnosis in an adult and a misdiagnosis of PCD as a child that was carried into adulthood. 

Association of Neonatal Hospital Length of Stay with Lung Function in Primary Ciliary Dyskinesia. Wee WB, Leigh MW, Davis SD, Rosenfeld M, Sullivan KM, Sawras MG, Ferkol TW, Knowles MR, Milla C, Sagel SD, Zariwala MA, Pullenayegum E, Dell SD. Ann Am Thorac Soc. 2022 Nov;19(11):1865-1870. doi: 10.1513/AnnalsATS.202202-116OC. PMID: 35657736.

Primary ciliary dyskinesia (PCD) is an inherited, multisystem disease affecting the airways, sinuses, and middle ear that arises from dysfunctional cilia (hairlike structures). This in turn can lead to hearing loss, chronic cough, severe lung damage, and bronchiectasis (irreversible scarring and dilation of the bronchi). Patients with PCD have ranging disease variability and severity, with some clinical manifestations presenting soon after birth. In this study, researchers evaluated the association between neonatal hospital length of stay and supplemental oxygen duration with lung function in pediatric PCD. They used data from a Genetic Disorders of Mucociliary Clearance Consortium (GDMCC) multicenter study consisting of 123 pediatric patients with PCD followed over 5 years. Study results showed that neonatal hospital length of stay was associated with worse lung function, independent of age and ultrastructural defects. However, supplemental oxygen duration was not associated with lung function. These findings highlight the need for future research into the mechanisms and management of neonatal respiratory distress in PCD patients to better understand the variability in lung health outcomes in this patient population.

Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype. Ostrowski LE, Yin W, Smith AJ, Sears PR, Bustamante-Marin XM, Dang H, Hildebrandt F, Daniels LA, Capps NA, Sullivan KM, Leigh MW, Zariwala MA, Knowles MR Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype. Int J Mol Sci. 2022 Feb 3;23(3):1753. doi: 10.3390/ijms23031753. PMID: 35163670; PMCID: PMC8835943.

Primary ciliary dyskinesia (PCD) is a rare lung disease caused by mutations that impair the movement of cilia, tiny hair-like structures on airway cells that beat rhythmically to move mucus out of the airways. Defects in cilia structure or function result in chronic upper and lower respiratory disease. Mutations in the ODAD1 gene result in a failure to assemble outer dynein arms (ODAs), the molecular motors that provide the force for ciliary beating. In the absence of ODAD1, cilia are mostly immotile cilia, and subjects suffer from a typical PCD phenotype. In this study, researchers identified a patient with an unusually mild phenotype and a mutation in ODAD1. To investigate the mechanisms behind this unusual phenotype, they performed molecular and functional studies of cultured nasal epithelial cells. Their findings indicate that the mutant protein retains partial function, allowing for the assembly of some ODAs and a significant level of ciliary activity that may result in the unusually mild phenotype. These findings also suggest that partial restoration of ciliary function by therapeutic agents could lead to significant improvement of PCD symptoms.

Going beyond the chest X-ray: Investigating laterality defects in primary ciliary dyskinesia. Wee WB, Kaspy KR, Sawras MG, Knowles MR, Zariwala MA, Leigh MW, Dell SD, Shapiro AJ. Pediatr Pulmonol. 2022 May;57(5):1318-1324. doi: 10.1002/ppul.25853. Epub 2022 Feb 21. PMID: 35122416.

Primary ciliary dyskinesia (PCD) is an inherited condition in which mucociliary clearance is impaired in the upper and lower airways. Organ laterality defects are common in patients with PCD, ranging from situs inversus totalis (SIT, complete mirror image organ arrangement), to situs ambiguus (SA, any laterality defect other than SI). However, targeted investigations for these defects are not universally recommended in PCD consensus statements. Without investigations beyond chest radiography (CXR), clinically significant defects may go undetected, leading to increased morbidity. In this study, researchers reviewed CXR images and reports of add-on, targeted investigations (computed tomography scans, abdominal ultrasounds, upper GI contrast studies, and splenic scintigraphy) from medical records collected at two PCD clinics. They compared situs classifications from CXR alone versus CXR with add-on, targeted investigations. Results showed that situs classification differed significantly from CXR images alone versus CXR with add-on, targeted investigations. Some of these additional organ laterality defects resulted in significant patient morbidity and even mortality when splenic dysfunction was present. Authors conclude that in PCD patients, clinically significant SA defects may not be detected by CXR alone. These results suggest that the routine use of CXR with add-on, targeted investigations may be justified.

Hereditary Mucin Deficiency Caused by Biallelic Loss of Function of MUC5B. Costain G, Liu Z, Mennella V, Radicioni G, Goczi AN, Albulescu A, Walker S, Ngan B, Manson D, Vali R, Khan M, Palaniyar N, Hill DB, Hall DA, Marshall CR, Knowles M, Zariwala MA, Kesimer M, Dell SD. Am J Respir Crit Care Med. 2022 Apr 1;205(7):761-768. doi: 10.1164/rccm.202106-1456OC. PMID: 35023825.

Mucins (the major protein component of mucus) are fundamental to airway health. Upregulation of mucin 5B (MUC5B) is observed in common lung diseases, making it a potential therapeutic target. In mice, Muc5b is required for mucociliary clearance and for controlling inflammation after microbial exposure, although the consequences of its loss in humans are unclear. In this study, researchers aimed to identify and characterize a family with congenital absence of MUC5B. The team performed whole-genome sequencing in an adult proband, deep phenotyping, and genotyping with reverse phenotyping for 8 family members. Across accessible sample types, the team performed immunofluorescence staining and mass spectrometry for mucins. Results show that congenital absence of MUC5B defines a new category of genetic respiratory disease. In addition, the human phenotype is consistent with the Muc5b mouse model. Authors note that further study of individuals with decreased MUC5B production could provide unique insights into airway mucus biology.

The role of SPAG1 in the assembly of axonemal dyneins in human airway epithelia. Smith AJ, Bustamante-Marin XM, Yin W, Sears PR, Herring LE, Dicheva NN, López-Giráldez F, Mane S, Tarran R, Leigh MW, Knowles MR, Zariwala MA, Ostrowski LE. J Cell Sci. 2022 Mar 15;135(6):jcs259512. doi: 10.1242/jcs.259512. Epub 2022 Mar 31.

Autosomal dominant variants in FOXJ1 causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus. Shapiro AJ, Kaspy K, Daniels MLA, Stonebraker JR, Nguyen VH, Joyal L, Knowles MR, Zariwala MA. Mol Genet Genomic Med. 2021 Jul;9(7):e1726. doi: 10.1002/mgg3.1726. Epub 2021 Jun 15.

Two patients with chronic oto-sino-pulmonary disease and hydrocephalus underwent candidate testing of FOXJ1, a gene that controls the production of motile cilia (miniature, whip-like organelles in the lungs, respiratory tract and middle ear, whose beating generates a directional fluid flow). Upon sequencing, heterozygous, pathogenic variants were discovered in two patients. Study authors concluded that FOXJ1 pathogenic variants cause primary ciliary dyskinesia (PCD) in a de novo, autosomal dominant inheritance pattern, and are associated with hydrocephalus. Physicians treating patients with hydrocephalus and chronic oto-sino-pulmonary disease should be aware of this PCD association and test for FOXJ1 variants.

Early Diagnosis and Intervention in Cystic Fibrosis: Imagining the Unimaginable. Coverstone AM, Ferkol TW. Front Pediatr. 2021 Jan 11;8:608821. doi: 10.3389/fped.2020.608821. eCollection 2020.

Emerging Genotype-Phenotype Relationships in Primary Ciliary Dyskinesia. Brennan SK, Ferkol TW, Davis SD. Int J Mol Sci. 2021 Jul 31;22(15):8272. doi: 10.3390/ijms22158272.

Primary ciliary dyskinesia (PCD) is a rare inherited condition that affects cilia—tiny, hair-like structures—in the lungs, nose and ears of affected individuals, both impairing their ability to remove germs and pollutants and allowing mucus buildup and infections. Abnormal cilia can alter fluid flow in the fallopian tubes and ventricles within the brain, and defects in analogous structures, flagella, can result in abnormal sperm movement. Approximately 50% of people with PCD will present with a laterality defect, like situs inversus totalis, in which the arrangement of the internal organs is a mirror image of normal anatomy. Heterotaxy, in which many organs in the body can be formed abnormally, in the wrong position, or even missing, is also more common in this disease. In this review paper, authors provide an overview of PCD and describe its impacts on cilia structure and function as well as diagnostic approaches. They summarize the various types and presentations (phenotypes) of PCD along with causative genes (genotypes) and the relationships that have emerged over 20 years of research into the condition. Authors also state that the increasing availability of genetic panels for PCD are now refining their understanding of those genotype-phenotype relationships and revealing milder forms of the disease.

Implementation of a screening tool for primary ciliary dyskinesia (PCD) in a pediatric otolaryngology clinic. Brennan SK, Molter D, Menezes M, Dunsky K, Leonard D, Lieu J, Hirose K, Hazan G, Horani A, Ferkol T, Brody SL. Int J Pediatr Otorhinolaryngol. 2021 Mar;142:110586. doi: 10.1016/j.ijporl.2020.110586. Epub 2020 Dec 31.

Sinus Development and Pneumatization in a Primary Ciliary Dyskinesia Cohort. Pappa AK, Sullivan KM, Lopez EM, Adams KN, Zanation AM, Ebert CS Jr, Thorp BD, Senior BA, Leigh MW, Knowles MR, Kimple AJ. Am J Rhinol Allergy. 2021 Jan;35(1):72-76. doi: 10.1177/1945892420933175. Epub 2020 Jun 19.

Structural insights into the cause of human RSPH4A primary ciliary dyskinesia. Zhao Y, Pinskey J, Lin J, Yin W, Sears PR, Daniels LA, Zariwala MA, Knowles MR, Ostrowski LE, Nicastro D. Mol Biol Cell. 2021 Jun 1;32(12):1202-1209. doi: 10.1091/mbc.E20-12-0806. Epub 2021 Apr 14.

Understanding Primary Ciliary Dyskinesia and Other Ciliopathies. Horani A, Ferkol TW. J Pediatr. 2021 Mar;230:15-22.e1. doi: 10.1016/j.jpeds.2020.11.040. Epub 2020 Nov 23.

Use caution interpreting nasal nitric oxide – overlap in primary ciliary dyskinesia and primary immunodeficiency. Barber AT, Davis SD, Boutros H, Zariwala M, Knowles MR, Leigh MW. Pediatr Pulmonol. 2021 Sep 2. doi: 10.1002/ppul.25636. Online ahead of print.

This case report highlights the difficulty distinguishing primary ciliary dyskinesia (PCD) from primary immunodeficiency (PID) with particular emphasis on the potential overlap in nasal nitric oxide levels between the two disorders. An 11-year-old female with history of chronic wet cough, chronic nasal congestion, and recurrent lower respiratory tract infections was referred for evaluation of possible PCD. Her nasal nitric oxide level was low (9.8 nL/min) and remained low at follow-up one year later (17.5 nL/min). Ciliary ultrastructure on transmission electron microscopy (TEM) was normal and PCD genetic testing was unrevealing, but given her clinical history and low nasal nitric oxide, she was classified as “probable PCD.” Later, at the age of 21, she became acutely ill, was diagnosed with hemophagocytic lymphohistiocytosis, and died secondary to this. She was subsequently found to have a pathogenic variant in GATA2 resulting in GATA2 deficiency, a syndrome characterized by immunodeficiency and predisposition to myelodysplastic syndrome. This case illustrates how individuals with PID can also have persistent low nasal nitric oxide levels. In those with suspicion for PCD but without a definitive diagnosis (confirmed by either PCD genetic testing and/or abnormal ciliary ultrastructure on TEM), clinicians should consider genetic testing for PID.

A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance. Chivukula RR, Montoro DT, Leung HM, Yang J, Shamseldin HE, Taylor MS, Dougherty GW, Zariwala MA, Carson J, Daniels MLA, Sears PR, Black KE, Hariri LP, Almogarri I, Frenkel EM, Vinarsky V, Omran H, Knowles MR, Tearney GJ, Alkuraya FS, Sabatini DM. Nat Med. 2020 Feb;26(2):244-251. doi: 10.1038/s41591-019-0730-x. Epub 2020 Jan 20.

A proposal for the addressing the needs of the pediatric pulmonary work force. Gaston B, Laguna TA, Noah TL, Hagood J, Voynow J, Ferkol T, Hershenson M, Boyne K, Delecaris A, Ross K, Gozal D, Celedón JC, Abman SH, Moore P, Davis S, Cornfield DN, Murphy T. Pediatr Pulmonol. 2020 Aug;55(8):1859-1867. doi: 10.1002/ppul.24856. Epub 2020 Jun 12.

Access to medicines for rare diseases: beating the drum for primary ciliary dyskinesia. Crowley S, Azevedo I, Boon M, Bush A, Eber E, Haarman E, Karadag B, Kötz K, Leigh M, Moreno-Galdó A, Mussaffi H, Nielsen KG, Omran H, Papon JF, Pohunek P, Priftis K, Rindlisbacher B, Santamaria F, Valiulis A, Witt M, Yiallouros P, Zivkovic Z, Kuehni CE, Lucas JS. ERJ Open Res. 2020 Sep 14;6(3):00377-2020. doi: 10.1183/23120541.00377-2020. eCollection 2020 Jul.

Author Correction: A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance. Chivukula RR, Montoro DT, Leung HM, Yang J, Shamseldin HE, Taylor MS, Dougherty GW, Zariwala MA, Carson J, Daniels MLA, Sears PR, Black KE, Hariri LP, Almogarri I, Frenkel EM, Vinarsky V, Omran H, Knowles MR, Tearney GJ, Alkuraya FS, Sabatini DM. Nat Med. 2020 Feb;26(2):300. doi: 10.1038/s41591-020-0773-z.

Comparison of Multiple Breath Washout and Spirometry in Children with Primary Ciliary Dyskinesia and Cystic Fibrosis and Healthy Controls. Kinghorn B, McNamara S, Genatossio A, Sullivan E, Siegel M, Bauer I, Clem C, Johnson RC, Davis M, Griffiths A, Wheeler W, Johnson K, Davis SD, Leigh MW, Rosenfeld M, Pittman J. Ann Am Thorac Soc. 2020 Sep;17(9):1085-1093. doi: 10.1513/AnnalsATS.201905-375OC.

Cytoplasmic "ciliary inclusions" in isolation are not sufficient for the diagnosis of primary ciliary dyskinesia. Vece TJ, Sagel SD, Zariwala MA, Sullivan KM, Burns KA, Dutcher SK, Yusupov R, Leigh MW, Knowles MR. Pediatr Pulmonol. 2020 Jan;55(1):130-135. doi: 10.1002/ppul.24528. Epub 2019 Sep 23.

HY-DIN' in the Cilia: Discovery of Central Pair-related Mutations in Primary Ciliary Dyskinesia. Dutcher SK, Brody SL. Am J Respir Cell Mol Biol. 2020 Mar;62(3):281-282. doi: 10.1165/rcmb.2019-0316ED.

High-Speed Videomicroscopy Analysis Presents Limitations in Diagnosis of Primary Ciliary Dyskinesia. Shapiro AJ, Ferkol TW, Manion M, Leigh MW, Davis SD, Knowles MR. Am J Respir Crit Care Med. 2020 Jan 1;201(1):122-123. doi: 10.1164/rccm.201907-1366LE.

Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia. Bustamante-Marin XM, Shapiro A, Sears PR, Charng WL, Conrad DF, Leigh MW, Knowles MR, Ostrowski LE, Zariwala MA. J Hum Genet. 2020 Jan;65(2):175-180. doi: 10.1038/s10038-019-0686-1. Epub 2019 Oct 21.

Limitations of Nasal Nitric Oxide Testing in Primary Ciliary Dyskinesia. Shapiro AJ, Davis SD, Leigh MW, Knowles MR, Lavergne V, Ferkol T. Am J Respir Crit Care Med. 2020 Aug 1;202(3):476-477. doi: 10.1164/rccm.202003-0835LE.

Motile ciliopathies. Wallmeier J, Nielsen KG, Kuehni CE, Lucas JS, Leigh MW, Zariwala MA, Omran H. Nat Rev Dis Primers. 2020 Sep 17;6(1):77. doi: 10.1038/s41572-020-0209-6.

Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia. 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. PLoS Genet. 2020 Aug 7;16(8):e1008691. doi: 10.1371/journal.pgen.1008691. eCollection 2020 Aug.

Nasal Nitric Oxide Measurement in Primary Ciliary Dyskinesia. A Technical Paper on Standardized Testing Protocols. Shapiro AJ, Dell SD, Gaston B, O'Connor M, Marozkina N, Manion M, Hazucha MJ, Leigh MW. Ann Am Thorac Soc. 2020 Feb;17(2):e1-e12. doi: 10.1513/AnnalsATS.201904-347OT.

Primary ciliary dyskinesia in the genomics age. Lucas JS, Davis SD, Omran H, Shoemark A. Lancet Respir Med. 2020 Feb;8(2):202-216. doi: 10.1016/S2213-2600(19)30374-1. Epub 2019 Oct 14.

The Extrapulmonary Effects of Cystic Fibrosis Transmembrane Conductance Regulator Modulators in Cystic Fibrosis. Sergeev V, Chou FY, Lam GY, Hamilton CM, Wilcox PG, Quon BS. Ann Am Thorac Soc. 2020 Feb;17(2):147-154. doi: 10.1513/AnnalsATS.201909-671CME.

The effects of sildenafil on ciliary beat frequency in patients with pulmonary non-tuberculous mycobacteria disease: phase I/II trial. Fowler C, Wu UI, Shaffer R, Smith C, Barnhart L, Bryant C, Olivier K, Holland SM. BMJ Open Respir Res. 2020 Mar;7(1):e000574. doi: 10.1136/bmjresp-2020-000574.

De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry. Wallmeier J, Frank D, Shoemark A, Nöthe-Menchen T, Cindric S, Olbrich H, Loges NT, Aprea I, Dougherty GW, Pennekamp P, Kaiser T, Mitchison HM, Hogg C, Carr SB, Zariwala MA, Ferkol T, Leigh MW, Davis SD, Atkinson J, Dutcher SK, Knowles MR, Thiele H, Altmüller J, Krenz H, Wöste M, Brentrup A, Ahrens F, Vogelberg C, Morris-Rosendahl DJ, Omran H. Am J Hum Genet. 2019 Nov 7;105(5):1030-1039. doi: 10.1016/j.ajhg.2019.09.022. Epub 2019 Oct 17.

Errors in Methodology Affect Diagnostic Accuracy of High-Speed Videomicroscopy Analysis in Primary Ciliary Dyskinesia. Shapiro AJ, Leigh MW, Omran H, Lavergne V, Knowles MR. Chest. 2019 Nov;156(5):1032-1033. doi: 10.1016/j.chest.2019.06.021.

Evaluation of the pulmonary radioaerosol mucociliary clearance scan as an adjunctive test for the diagnosis of primary ciliary dyskinesia in children. Vali R, Ghandourah H, Charron M, Nezhad KV, Omarkhail Y, Khazaee A, Shammas A, Dell SD. Pediatr Pulmonol. 2019 Dec;54(12):2021-2027. doi: 10.1002/ppul.24509. Epub 2019 Sep 12.

Frequenting Sequencing: How Genetics Teaches Us Cilia Biology. Horani A, Brody SL. Am J Respir Cell Mol Biol. 2019 Oct;61(4):403-404. doi: 10.1165/rcmb.2019-0103ED.

Human PI3Kγ deficiency and its microbiota-dependent mouse model reveal immunodeficiency and tissue immunopathology. Takeda AJ, Maher TJ, Zhang Y, Lanahan SM, Bucklin ML, Compton SR, Tyler PM, Comrie WA, Matsuda M, Olivier KN, Pittaluga S, McElwee JJ, Long Priel DA, Kuhns DB, Williams RL, Mustillo PJ, Wymann MP, Koneti Rao V, Lucas CL. Nat Commun. 2019 Sep 25;10(1):4364. doi: 10.1038/s41467-019-12311-5.

Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance. Bustamante-Marin XM, Yin WN, Sears PR, Werner ME, Brotslaw EJ, Mitchell BJ, Jania CM, Zeman KL, Rogers TD, Herring LE, Refabért L, Thomas L, Amselem S, Escudier E, Legendre M, Grubb BR, Knowles MR, Zariwala MA, Ostrowski LE. Am J Hum Genet. 2019 Feb 7;104(2):229-245. doi: 10.1016/j.ajhg.2018.12.009. Epub 2019 Jan 18.

Lymphocyte-driven regional immunopathology in pneumonitis caused by impaired central immune tolerance. Ferré EMN, Break TJ, Burbelo PD, Allgäuer M, Kleiner DE, Jin D, Xu Z, Folio LR, Mollura DJ, Swamydas M, Gu W, Hunsberger S, Lee CR, Bondici A, Hoffman KW, Lim JK, Dobbs K, Niemela JE, Fleisher TA, Hsu AP, Snow LN, Darnell DN, Ojaimi S, Cooper MA, Bozzola M, Kleiner GI, Martinez JC, Deterding RR, Kuhns DB, Heller T, Winer KK, Rajan A, Holland SM, Notarangelo LD, Fennelly KP, Olivier KN, Lionakis MS. Sci Transl Med. 2019 Jun 5;11(495):eaav5597. doi: 10.1126/scitranslmed.aav5597.

Nasal Nitric Oxide in Primary Immunodeficiency and Primary Ciliary Dyskinesia: Helping to Distinguish Between Clinically Similar Diseases. Zysman-Colman ZN, Kaspy KR, Alizadehfar R, NyKamp KR, Zariwala MA, Knowles MR, Vinh DC, Shapiro AJ. J Clin Immunol. 2019 Feb;39(2):216-224. doi: 10.1007/s10875-019-00613-8. Epub 2019 Mar 26.

Patients with Idiopathic Pulmonary Nontuberculous Mycobacterial Disease Have Normal Th1/Th2 Cytokine Responses but Diminished Th17 Cytokine and Enhanced Granulocyte-Macrophage Colony-Stimulating Factor Production. Wu UI, Olivier KN, Kuhns DB, Fink DL, Sampaio EP, Zelazny AM, Shallom SJ, Marciano BE, Lionakis MS, Holland SM. Open Forum Infect Dis. 2019 Nov 28;6(12):ofz484. doi: 10.1093/ofid/ofz484. eCollection 2019 Dec.

Primary Ciliary Dyskinesia (PCD): A genetic disorder of motile cilia. Leigh MW, Horani A, Kinghorn B, O'Connor MG, Zariwala MA, Knowles MR. Transl Sci Rare Dis. 2019;4(1-2):51-75. doi: 10.3233/TRD-190036. Epub 2019 Jul 4.

Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype. Davis SD, Rosenfeld M, Lee HS, Ferkol TW, Sagel SD, Dell SD, Milla C, Pittman JE, Shapiro AJ, Sullivan KM, Nykamp KR, Krischer JP, Zariwala MA, Knowles MR, Leigh MW. Am J Respir Crit Care Med. 2019 Jan 15;199(2):190-198. doi: 10.1164/rccm.201803-0548OC.

Randomization of Left-right Asymmetry and Congenital Heart Defects: The Role of DNAH5 in Humans and Mice. Nöthe-Menchen T, Wallmeier J, Pennekamp P, Höben IM, Olbrich H, Loges NT, Raidt J, Dougherty GW, Hjeij R, Dworniczak B, Omran H. Circ Genom Precis Med. 2019 Oct 22:10.1161/CIRCGEN.119.002686. doi: 10.1161/CIRCGEN.119.002686. Online ahead of print.

Recurring large deletion in DRC1 (CCDC164) identified as causing primary ciliary dyskinesia in two Asian patients. Morimoto K, Hijikata M, Zariwala MA, Nykamp K, Inaba A, Guo TC, Yamada H, Truty R, Sasaki Y, Ohta K, Kudoh S, Leigh MW, Knowles MR, Keicho N. Mol Genet Genomic Med. 2019 Aug;7(8):e838. doi: 10.1002/mgg3.838. Epub 2019 Jul 4.

Summary for Clinicians: Diagnosis of Primary Ciliary Dyskinesia. O'Connor MG, Griffiths A, Iyer NP, Shapiro AJ, Wilson KC, Thomson CC. Ann Am Thorac Soc. 2019 Feb;16(2):171-174. doi: 10.1513/AnnalsATS.201810-693CME.

The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia. Hannah WB, DeBrosse S, Kinghorn B, Strausbaugh S, Aitken ML, Rosenfeld M, Wolf WE, Knowles MR, Zariwala MA. Mol Genet Genomic Med. 2019 Sep;7(9):e911. doi: 10.1002/mgg3.911. Epub 2019 Aug 1.

Validation of pediatric health-related quality of life instruments for primary ciliary dyskinesia (QOL-PCD). Behan L, Leigh MW, Dell SD, Quittner AL, Hogg C, Lucas JS. Pediatr Pulmonol. 2019 Dec;54(12):2011-2020. doi: 10.1002/ppul.24507. Epub 2019 Sep 1.

Advances in the Genetics of Primary Ciliary Dyskinesia: Clinical Implications. Horani A, Ferkol TW. Chest. 2018 Sep;154(3):645-652. doi: 10.1016/j.chest.2018.05.007. Epub 2018 May 22.

Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline. 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. Am J Respir Crit Care Med. 2018 Jun 15;197(12):e24-e39. doi: 10.1164/rccm.201805-0819ST.

Establishment of the early cilia preassembly protein complex during motile ciliogenesis. Horani A, Ustione A, Huang T, Firth AL, Pan J, Gunsten SP, Haspel JA, Piston DW, Brody SL. Proc Natl Acad Sci U S A. 2018 Feb 6;115(6):E1221-E1228. doi: 10.1073/pnas.1715915115. Epub 2018 Jan 22.

Primary ciliary dyskinesia: keep it on your radar. Rosenfeld M, Ostrowski LE, Zariwala MA. Thorax. 2018 Feb;73(2):101-102. doi: 10.1136/thoraxjnl-2017-210776. Epub 2017 Nov 13.

The Prevalence and Significance of Staphylococcus aureus in Patients with Non-Cystic Fibrosis Bronchiectasis. Metersky ML, Aksamit TR, Barker A, Choate R, Daley CL, Daniels LA, DiMango A, Eden E, Griffith D, Johnson M, Knowles M, O'Donnell AE, Olivier K, Salathe M, Thomashow B, Tino G, Turino G, Winthrop KL, Mannino D. Ann Am Thorac Soc. 2018 Mar;15(3):365-370. doi: 10.1513/AnnalsATS.201706-426OC.

The prevalence of the defining features of primary ciliary dyskinesia within a cri du chat syndrome cohort. Sanders CD, Leigh MW, Chao KC, Weck KE, King I, Wolf WE, Campbell DJ, Knowles MR, Zariwala MA, Shapiro AJ. Pediatr Pulmonol. 2018 Nov;53(11):1565-1573. doi: 10.1002/ppul.24159. Epub 2018 Sep 20.

A comparison of nasal nitric oxide measurement modes. Deschamp AR, Schornick L, Clem C, Hazucha M, Shapiro AJ, Davis SD. Pediatr Pulmonol. 2017 Nov;52(11):1381-1382. doi: 10.1002/ppul.23780. Epub 2017 Aug 16.

Accuracy of Nasal Nitric Oxide Measurement as a Diagnostic Test for Primary Ciliary Dyskinesia. A Systematic Review and Meta-analysis. Shapiro AJ, Josephson M, Rosenfeld M, Yilmaz O, Davis SD, Polineni D, Guadagno E, Leigh MW, Lavergne V. Ann Am Thorac Soc. 2017 Jul;14(7):1184-1196. doi: 10.1513/AnnalsATS.201701-062SR.

An Official American Thoracic Society Workshop Report: Translational Research in Rare Respiratory Diseases. 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. Ann Am Thorac Soc. 2017 Aug;14(8):1239-1247. doi: 10.1513/AnnalsATS.201705-406WS.

Cilia and Mucociliary Clearance. Bustamante-Marin XM, Ostrowski LE. Cold Spring Harb Perspect Biol. 2017 Apr 3;9(4):a028241. doi: 10.1101/cshperspect.a028241.

European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia. 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. Eur Respir J. 2017 Jan 4;49(1):1601090. doi: 10.1183/13993003.01090-2016. Print 2017 Jan.

Growth and nutritional status, and their association with lung function: a study from the international Primary Ciliary Dyskinesia Cohort. Goutaki M, Halbeisen FS, Spycher BD, Maurer E, Belle F, Amirav I, Behan L, Boon M, Carr S, Casaulta C, Clement A, Crowley S, Dell S, Ferkol T, Haarman EG, Karadag B, Knowles M, Koerner-Rettberg C, Leigh MW, Loebinger MR, Mazurek H, Morgan L, Nielsen KG, Phillipsen M, Sagel SD, Santamaria F, Schwerk N, Yiallouros P, Lucas JS, Kuehni CE; PCD Israeli Consortium; Swiss PCD Group; French Reference Centre for Rare Lung Diseases. Eur Respir J. 2017 Dec 21;50(6):1701659. doi: 10.1183/13993003.01659-2017. Print 2017 Dec.

Primary ciliary dyskinesia: mechanisms and management. Damseh N, Quercia N, Rumman N, Dell SD, Kim RH. Appl Clin Genet. 2017 Sep 19;10:67-74. doi: 10.2147/TACG.S127129. eCollection 2017.

Quantitative Proteomic Analysis of Human Airway Cilia Identifies Previously Uncharacterized Proteins of High Abundance. Blackburn K, Bustamante-Marin X, Yin W, Goshe MB, Ostrowski LE. J Proteome Res. 2017 Apr 7;16(4):1579-1592. doi: 10.1021/acs.jproteome.6b00972. Epub 2017 Mar 27.

Respiratory manifestations in 38 patients with Alström syndrome. Boerwinkle C, Marshall JD, Bryant J, Gahl WA, Olivier KN, Gunay-Aygun M. Pediatr Pulmonol. 2017 Apr;52(4):487-493. doi: 10.1002/ppul.23607. Epub 2016 Dec 28.

Validation of a health-related quality of life instrument for primary ciliary dyskinesia (QOL-PCD). Behan L, Leigh MW, Dell SD, Dunn Galvin A, Quittner AL, Lucas JS. Thorax. 2017 Sep;72(9):832-839. doi: 10.1136/thoraxjnl-2016-209356. Epub 2017 Feb 28.

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. Shapiro AJ, Leigh MW. Ultrastruct Pathol. 2017 Nov-Dec;41(6):373-385. doi: 10.1080/01913123.2017.1362088. Epub 2017 Sep 15.

Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents. 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. Ann Am Thorac Soc. 2016 Aug;13(8):1305-13. doi: 10.1513/AnnalsATS.201511-748OC.

Clinical manifestations in primary ciliary dyskinesia: systematic review and meta-analysis. Goutaki M, Meier AB, Halbeisen FS, Lucas JS, Dell SD, Maurer E, Casaulta C, Jurca M, Spycher BD, Kuehni CE. Eur Respir J. 2016 Oct;48(4):1081-1095. doi: 10.1183/13993003.00736-2016. Epub 2016 Aug 4.

Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review. 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. Pediatr Pulmonol. 2016 Feb;51(2):115-32. doi: 10.1002/ppul.23304. Epub 2015 Sep 29.

Enlarged Dural Sac in Idiopathic Bronchiectasis Implicates Heritable Connective Tissue Gene Variants. Daniels ML, Birchard KR, Lowe JR, Patrone MV, Noone PG, Knowles MR. Ann Am Thorac Soc. 2016 Oct;13(10):1712-1720. doi: 10.1513/AnnalsATS.201603-161OC.

Genetics and biology of primary ciliary dyskinesia. Horani A, Ferkol TW, Dutcher SK, Brody SL. Paediatr Respir Rev. 2016 Mar;18:18-24. doi: 10.1016/j.prrv.2015.09.001. Epub 2015 Sep 11.

Primary Ciliary Dyskinesia. Knowles MR, Zariwala M, Leigh M. Clin Chest Med. 2016 Sep;37(3):449-61. doi: 10.1016/j.ccm.2016.04.008. Epub 2016 Jun 30.

Primary Ciliary Dyskinesia: First Health-related Quality-of-Life Measures for Pediatric Patients. Dell SD, Leigh MW, Lucas JS, Ferkol TW, Knowles MR, Alpern A, Behan L, Morris AM, Hogg C, DunnGalvin A, Quittner AL. Ann Am Thorac Soc. 2016 Oct;13(10):1726-1735. doi: 10.1513/AnnalsATS.201603-198OC.

Primary ciliary dyskinesia and associated sensory ciliopathies. Horani A, Ferkol TW. Expert Rev Respir Med. 2016;10(5):569-76. doi: 10.1586/17476348.2016.1165612. Epub 2016 Mar 28.

The evolving spectrum of ciliopathies and respiratory disease. Milla CE. Curr Opin Pediatr. 2016 Jun;28(3):339-47. doi: 10.1097/MOP.0000000000000358.

The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network. Merkel PA, Manion M, Gopal-Srivastava R, Groft S, Jinnah HA, Robertson D, Krischer JP; Rare Diseases Clinical Research Network. Orphanet J Rare Dis. 2016 May 18;11(1):66. doi: 10.1186/s13023-016-0445-8.

A quality-of-life measure for adults with primary ciliary dyskinesia: QOL-PCD. Lucas JS, Behan L, Dunn Galvin A, Alpern A, Morris AM, Carroll MP, Knowles MR, Leigh MW, Quittner AL. Eur Respir J. 2015 Aug;46(2):375-83. doi: 10.1183/09031936.00216214. Epub 2015 May 14.

Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population. Fedick AM, Jalas C, Treff NR, Knowles MR, Zariwala MA. Mol Genet Genomic Med. 2015 Mar;3(2):137-42. doi: 10.1002/mgg3.124. Epub 2014 Dec 6.

Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype. 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. Am J Respir Crit Care Med. 2015 Feb 1;191(3):316-24. doi: 10.1164/rccm.201409-1672OC.

Genetics, diagnosis, and future treatment strategies for primary ciliary dyskinesia. Daniels ML, Noone PG. Expert Opin Orphan Drugs. 2015 Mar 1;3(1):31-44. doi: 10.1517/21678707.2015.989212. Epub 2014 Nov 29.

Primary ciliary dyskinesia. Lobo J, Zariwala MA, Noone PG. Semin Respir Crit Care Med. 2015 Apr;36(2):169-79. doi: 10.1055/s-0035-1546748. Epub 2015 Mar 31.

Pulmonary Nontuberculous Mycobacterial Infection. A Multisystem, Multigenic Disease. Szymanski EP, Leung JM, Fowler CJ, Haney C, Hsu AP, Chen F, Duggal P, Oler AJ, McCormack R, Podack E, Drummond RA, Lionakis MS, Browne SK, Prevots DR, Knowles M, Cutting G, Liu X, Devine SE, Fraser CM, Tettelin H, Olivier KN, Holland SM. Am J Respir Crit Care Med. 2015 Sep 1;192(5):618-28. doi: 10.1164/rccm.201502-0387OC.

Standardization and validation of a novel and simple method to assess lumbar dural sac size. Daniels ML, Lowe JR, Roy P, Patrone MV, Conyers JM, Fine JP, Knowles MR, Birchard KR. Clin Radiol. 2015 Feb;70(2):146-52. doi: 10.1016/j.crad.2014.10.009. Epub 2014 Nov 27.

The Evolution of Cystic Fibrosis Care. Pittman JE, Ferkol TW. Chest. 2015 Aug;148(2):533-542. doi: 10.1378/chest.14-1997.

The prevalence of clinical features associated with primary ciliary dyskinesia in a heterotaxy population: results of a web-based survey. Shapiro AJ, Tolleson-Rinehart S, Zariwala MA, Knowles MR, Leigh MW. Cardiol Young. 2015 Apr;25(4):752-9. doi: 10.1017/S1047951114000912. Epub 2014 Jun 6.

Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. Marshall CR, Scherer SW, Zariwala MA, Lau L, Paton TA, Stockley T, Jobling RK, Ray PN, Knowles MR; FORGE Canada Consortium, Hall DA, Dell SD, Kim RH. G3 (Bethesda). 2015 Jul 2;5(8):1775-81. doi: 10.1534/g3.115.019851.

A new tool improves diagnostic test performance for transmission em evaluation of axonemal dynein arms. Funkhouser WK 3rd, Niethammer M, Carson JL, Burns KA, Knowles MR, Leigh MW, Zariwala MA, Funkhouser WK Jr. Ultrastruct Pathol. 2014 Aug;38(4):248-55. doi: 10.3109/01913123.2013.815081. Epub 2013 Aug 19.

Cri du chat syndrome and primary ciliary dyskinesia: a common genetic cause on chromosome 5p. Shapiro AJ, Weck KE, Chao KC, Rosenfeld M, Nygren AO, Knowles MR, Leigh MW, Zariwala MA. J Pediatr. 2014 Oct;165(4):858-61. doi: 10.1016/j.jpeds.2014.06.048. Epub 2014 Jul 25.

Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia. Lin J, Yin W, Smith MC, Song K, Leigh MW, Zariwala MA, Knowles MR, Ostrowski LE, Nicastro D. Nat Commun. 2014 Dec 4;5:5727. doi: 10.1038/ncomms6727.

Environmental risks for nontuberculous mycobacteria. Individual exposures and climatic factors in the cystic fibrosis population. Prevots DR, Adjemian J, Fernandez AG, Knowles MR, Olivier KN. Ann Am Thorac Soc. 2014 Sep;11(7):1032-8. doi: 10.1513/AnnalsATS.201404-184OC.

Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy. Shapiro AJ, Davis SD, Ferkol T, Dell SD, Rosenfeld M, Olivier KN, Sagel SD, Milla C, Zariwala MA, Wolf W, Carson JL, Hazucha MJ, Burns K, Robinson B, Knowles MR, Leigh MW; Genetic Disorders of Mucociliary Clearance Consortium. Chest. 2014 Nov;146(5):1176-1186. doi: 10.1378/chest.13-1704.

Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. Knowles MR, Ostrowski LE, Leigh MW, Sears PR, Davis SD, Wolf WE, Hazucha MJ, Carson JL, Olivier KN, Sagel SD, Rosenfeld M, Ferkol TW, Dell SD, Milla CE, Randell SH, Yin W, Sannuti A, Metjian HM, Noone PG, Noone PJ, Olson CA, Patrone MV, Dang H, Lee HS, Hurd TW, Gee HY, Otto EA, Halbritter J, Kohl S, Kircher M, Krischer J, Bamshad MJ, Nickerson DA, Hildebrandt F, Shendure J, Zariwala MA. Am J Respir Crit Care Med. 2014 Mar 15;189(6):707-17. doi: 10.1164/rccm.201311-2047OC.

Picking up speed: advances in the genetics of primary ciliary dyskinesia. Horani A, Brody SL, Ferkol TW. Pediatr Res. 2014 Jan;75(1-2):158-64. doi: 10.1038/pr.2013.200. Epub 2013 Nov 5.

Primary ciliary dyskinesia and neonatal respiratory distress. Mullowney T, Manson D, Kim R, Stephens D, Shah V, Dell S. Pediatrics. 2014 Dec;134(6):1160-6. doi: 10.1542/peds.2014-0808.

Sperm-associated antigen 6 (SPAG6) deficiency and defects in ciliogenesis and cilia function: polarity, density, and beat. Teves ME, Sears PR, Li W, Zhang Z, Tang W, van Reesema L, Costanzo RM, Davis CW, Knowles MR, Strauss JF 3rd, Zhang Z. PLoS One. 2014 Oct 21;9(10):e107271. doi: 10.1371/journal.pone.0107271. eCollection 2014.

The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. Kim RH, A Hall D, Cutz E, Knowles MR, Nelligan KA, Nykamp K, Zariwala MA, Dell SD. Ann Am Thorac Soc. 2014 Mar;11(3):351-9. doi: 10.1513/AnnalsATS.201306-194OC.

ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. Hjeij R, Lindstrand A, Francis R, Zariwala MA, Liu X, Li Y, Damerla R, Dougherty GW, Abouhamed M, Olbrich H, Loges NT, Pennekamp P, Davis EE, Carvalho CM, Pehlivan D, Werner C, Raidt J, Köhler G, Häffner K, Reyes-Mugica M, Lupski JR, Leigh MW, Rosenfeld M, Morgan LC, Knowles MR, Lo CW, Katsanis N, Omran H. Am J Hum Genet. 2013 Aug 8;93(2):357-67. doi: 10.1016/j.ajhg.2013.06.009. Epub 2013 Jul 11.

Abnormal nasal nitric oxide production, ciliary beat frequency, and Toll-like receptor response in pulmonary nontuberculous mycobacterial disease epithelium. Fowler CJ, Olivier KN, Leung JM, Smith CC, Huth AG, Root H, Kuhns DB, Logun C, Zelazny A, Frein CA, Daub J, Haney C, Shelhamer JH, Bryant CE, Holland SM. Am J Respir Crit Care Med. 2013 Jun 15;187(12):1374-81. doi: 10.1164/rccm.201212-2197OC.

DYX1C1 is required for axonemal dynein assembly and ciliary motility. 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; UK10K, Roepman R, Zariwala MA, Lo CW, Mitchison HM, Knowles MR, Burdine RD, Loturco JJ, Omran H. Nat Genet. 2013 Sep;45(9):995-1003. doi: 10.1038/ng.2707. Epub 2013 Jul 21.

Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. Knowles MR, Leigh MW, Ostrowski LE, Huang L, Carson JL, Hazucha MJ, Yin W, Berg JS, Davis SD, Dell SD, Ferkol TW, Rosenfeld M, Sagel SD, Milla CE, Olivier KN, Turner EH, Lewis AP, Bamshad MJ, Nickerson DA, Shendure J, Zariwala MA; Genetic Disorders of Mucociliary Clearance Consortium. Am J Hum Genet. 2013 Jan 10;92(1):99-106. doi: 10.1016/j.ajhg.2012.11.003. Epub 2012 Dec 20.

Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia. Daniels ML, Leigh MW, Davis SD, Armstrong MC, Carson JL, Hazucha M, Dell SD, Eriksson M, Collins FS, Knowles MR, Zariwala MA. Hum Mutat. 2013 Oct;34(10):1352-6. doi: 10.1002/humu.22371. Epub 2013 Aug 6.

Human airway ciliary dynamics. Sears PR, Thompson K, Knowles MR, Davis CW. Am J Physiol Lung Cell Mol Physiol. 2013 Feb 1;304(3):L170-83. doi: 10.1152/ajplung.00105.2012. Epub 2012 Nov 9.

Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. 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; Uk10k, Chung EM, Shoemark A, Knowles MR, Omran H, Mitchison HM. Hum Mutat. 2013 Mar;34(3):462-72. doi: 10.1002/humu.22261. Epub 2013 Feb 11.

Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. Knowles MR, Ostrowski LE, Loges NT, Hurd T, Leigh MW, Huang L, Wolf WE, Carson JL, Hazucha MJ, Yin W, Davis SD, Dell SD, Ferkol TW, Sagel SD, Olivier KN, Jahnke C, Olbrich H, Werner C, Raidt J, Wallmeier J, Pennekamp P, Dougherty GW, Hjeij R, Gee HY, Otto EA, Halbritter J, Chaki M, Diaz KA, Braun DA, Porath JD, Schueler M, Baktai G, Griese M, Turner EH, Lewis AP, Bamshad MJ, Nickerson DA, Hildebrandt F, Shendure J, Omran H, Zariwala MA. Am J Hum Genet. 2013 Oct 3;93(4):711-20. doi: 10.1016/j.ajhg.2013.07.025. Epub 2013 Sep 19.

Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities. Ferkol TW, Puffenberger EG, Lie H, Helms C, Strauss KA, Bowcock A, Carson JL, Hazucha M, Morton DH, Patel AC, Leigh MW, Knowles MR, Zariwala MA. J Pediatr. 2013 Aug;163(2):383-7. doi: 10.1016/j.jpeds.2013.01.061. Epub 2013 Mar 7.

Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease. Knowles MR, Daniels LA, Davis SD, Zariwala MA, Leigh MW. Am J Respir Crit Care Med. 2013 Oct 15;188(8):913-22. doi: 10.1164/rccm.201301-0059CI.

Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia. 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. Ann Am Thorac Soc. 2013 Dec;10(6):574-81. doi: 10.1513/AnnalsATS.201305-110OC.

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 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. Am J Hum Genet. 2013 Aug 8;93(2):336-45. doi: 10.1016/j.ajhg.2013.06.007. Epub 2013 Jul 25.

Ciliopathies: the central role of cilia in a spectrum of pediatric disorders. Ferkol TW, Leigh MW. J Pediatr. 2012 Mar;160(3):366-71. doi: 10.1016/j.jpeds.2011.11.024. Epub 2011 Dec 16.

Cutting edge genetic studies in primary ciliary dyskinesia. Knowles MR, Leigh MW, Zariwala MA. Thorax. 2012 May;67(5):464; author reply 464. doi: 10.1136/thoraxjnl-2012-201609. Epub 2012 Feb 10.

High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy. Nakhleh N, Francis R, Giese RA, Tian X, Li Y, Zariwala MA, Yagi H, Khalifa O, Kureshi S, Chatterjee B, Sabol SL, Swisher M, Connelly PS, Daniels MP, Srinivasan A, Kuehl K, Kravitz N, Burns K, Sami I, Omran H, Barmada M, Olivier K, Chawla KK, Leigh M, Jonas R, Knowles M, Leatherbury L, Lo CW. Circulation. 2012 May 8;125(18):2232-42. doi: 10.1161/CIRCULATIONAHA.111.079780. Epub 2012 Apr 12.

Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. 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. Thorax. 2012 May;67(5):433-41. doi: 10.1136/thoraxjnl-2011-200301. Epub 2011 Dec 18.

Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. 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. Am J Hum Genet. 2012 Oct 5;91(4):685-93. doi: 10.1016/j.ajhg.2012.08.022.

Diagnostic yield of nasal scrape biopsies in primary ciliary dyskinesia: a multicenter experience. Olin JT, Burns K, Carson JL, Metjian H, Atkinson JJ, Davis SD, Dell SD, Ferkol TW, Milla CE, Olivier KN, Rosenfeld M, Baker B, Leigh MW, Knowles MR, Sagel SD; Genetic Disorders of Mucociliary Clearance Consortium. Pediatr Pulmonol. 2011 May;46(5):483-8. doi: 10.1002/ppul.21402. Epub 2011 Jan 31.

Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing. Berg JS, Evans JP, Leigh MW, Omran H, Bizon C, Mane K, Knowles MR, Weck KE, Zariwala MA. Genet Med. 2011 Mar;13(3):218-29. doi: 10.1097/GIM.0b013e318203cff2.

The challenges of diagnosing primary ciliary dyskinesia. Leigh MW, O'Callaghan C, Knowles MR. Proc Am Thorac Soc. 2011 Sep;8(5):434-7. doi: 10.1513/pats.201103-028SD.

The emerging genetics of primary ciliary dyskinesia. Zariwala MA, Omran H, Ferkol TW. Proc Am Thorac Soc. 2011 Sep;8(5):430-3. doi: 10.1513/pats.201103-023SD.

Update of respiratory tract disease in children with primary ciliary dyskinesia. Sagel SD, Davis SD, Campisi P, Dell SD. Proc Am Thorac Soc. 2011 Sep;8(5):438-43. doi: 10.1513/pats.201103-024SD.

Primary ciliary dyskinesia in Amish communities. Lie H, Zariwala MA, Helms C, Bowcock AM, Carson JL, Brown DE 3rd, Hazucha MJ, Forsen J, Molter D, Knowles MR, Leigh MW, Ferkol TW. J Pediatr. 2010 Jun;156(6):1023-1025. doi: 10.1016/j.jpeds.2010.01.054. Epub 2010 Mar 29.

Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. Leigh MW, Pittman JE, Carson JL, Ferkol TW, Dell SD, Davis SD, Knowles MR, Zariwala MA. Genet Med. 2009 Jul;11(7):473-87. doi: 10.1097/GIM.0b013e3181a53562.

Clinical research for rare disease: opportunities, challenges, and solutions. Griggs RC, Batshaw M, Dunkle M, Gopal-Srivastava R, Kaye E, Krischer J, Nguyen T, Paulus K, Merkel PA; Rare Diseases Clinical Research Network. Mol Genet Metab. 2009 Jan;96(1):20-6. doi: 10.1016/j.ymgme.2008.10.003. Epub 2008 Nov 13.

Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. Loges NT, Olbrich H, Becker-Heck A, Häffner K, Heer A, Reinhard C, Schmidts M, Kispert A, Zariwala MA, Leigh MW, Knowles MR, Zentgraf H, Seithe H, Nürnberg G, Nürnberg P, Reinhardt R, Omran H. Am J Hum Genet. 2009 Dec;85(6):883-9. doi: 10.1016/j.ajhg.2009.10.018.

Primary ciliary dyskinesia: improving the diagnostic approach. Leigh MW, Zariwala MA, Knowles MR. Curr Opin Pediatr. 2009 Jun;21(3):320-5. doi: 10.1097/MOP.0b013e328329cddb.

Early lung disease in young children with primary ciliary dyskinesia. Brown DE, Pittman JE, Leigh MW, Fordham L, Davis SD. Pediatr Pulmonol. 2008 May;43(5):514-6. doi: 10.1002/ppul.20792.

A heterozygous mutation disrupting the SPAG16 gene results in biochemical instability of central apparatus components of the human sperm axoneme. Zhang Z, Zariwala MA, Mahadevan MM, Caballero-Campo P, Shen X, Escudier E, Duriez B, Bridoux AM, Leigh M, Gerton GL, Kennedy M, Amselem S, Knowles MR, Strauss JF 3rd. Biol Reprod. 2007 Nov;77(5):864-71. doi: 10.1095/biolreprod.107.063206. Epub 2007 Aug 15.

Burkholderia gladioli: five year experience in a cystic fibrosis and lung transplantation center. Kennedy MP, Coakley RD, Donaldson SH, Aris RM, Hohneker K, Wedd JP, Knowles MR, Gilligan PH, Yankaskas JR. J Cyst Fibros. 2007 Jul;6(4):267-73. doi: 10.1016/j.jcf.2006.10.007. Epub 2006 Nov 29.

Calcium stone lithoptysis in primary ciliary dyskinesia. Kennedy MP, Noone PG, Carson J, Molina PL, Ghio A, Zariwala MA, Minnix SL, Knowles MR. Respir Med. 2007 Jan;101(1):76-83. doi: 10.1016/j.rmed.2006.04.007. Epub 2006 Jun 6.

Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia. Kennedy MP, Omran H, Leigh MW, Dell S, Morgan L, Molina PL, Robinson BV, Minnix SL, Olbrich H, Severin T, Ahrens P, Lange L, Morillas HN, Noone PG, Zariwala MA, Knowles MR. Circulation. 2007 Jun 5;115(22):2814-21. doi: 10.1161/CIRCULATIONAHA.106.649038. Epub 2007 May 21.

Genetic defects in ciliary structure and function. Zariwala MA, Knowles MR, Omran H. Annu Rev Physiol. 2007;69:423-50. doi: 10.1146/annurev.physiol.69.040705.141301.

High-resolution CT of patients with primary ciliary dyskinesia. Kennedy MP, Noone PG, Leigh MW, Zariwala MA, Minnix SL, Knowles MR, Molina PL. AJR Am J Roentgenol. 2007 May;188(5):1232-8. doi: 10.2214/AJR.06.0965.

Primary ciliary dyskinesia: recent advances in pathogenesis, diagnosis and treatment. Lie H, Ferkol T. Drugs. 2007;67(13):1883-92. doi: 10.2165/00003495-200767130-00006.

Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. Zariwala MA, Leigh MW, Ceppa F, Kennedy MP, Noone PG, Carson JL, Hazucha MJ, Lori A, Horvath J, Olbrich H, Loges NT, Bridoux AM, Pennarun G, Duriez B, Escudier E, Mitchison HM, Chodhari R, Chung EM, Morgan LC, de Iongh RU, Rutland J, Pradal U, Omran H, Amselem S, Knowles MR. Am J Respir Crit Care Med. 2006 Oct 15;174(8):858-66. doi: 10.1164/rccm.200603-370OC. Epub 2006 Jul 20.

Primary ciliary dyskinesia and newborn respiratory distress. Ferkol T, Leigh M. Semin Perinatol. 2006 Dec;30(6):335-40. doi: 10.1053/j.semperi.2005.11.001.

Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome. Sheridan MB, Fong P, Groman JD, Conrad C, Flume P, Diaz R, Harris C, Knowles M, Cutting GR. Hum Mol Genet. 2005 Nov 15;14(22):3493-8. doi: 10.1093/hmg/ddi374. Epub 2005 Oct 5.