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Beaman MM, Yin W, Smith AJ, Sears PR, Leigh MW, Ferkol TW, Kearney B, Olivier KN, Kimple AJ, Clarke S, Huggins E, Nading E, Jung SH, Iyengar AK, Zou X, Dang H, Barrera A, Majoros WH, Rehder CW, Reddy TE, Ostrowski LE, Allen AS, Knowles MR, Zariwala MA, Crawford GE. Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia. Am J Med Genet A. 2024 Oct 4:e63880. doi: 10.1002/ajmg.a.63880. Epub ahead of print. PMID: 39364610.

Primary ciliary dyskinesia (PCD) is a genetic condition in which mucociliary clearance of the lungs is impaired, leading to accumulation of harmful particles and pathogens trapped within mucus. Variation in the non-coding genome can sometimes cause genetic diseases like PCD. However, it can be challenging to predict whether these variants will lead to disease.

In this study, researchers identified a pathogenic non-coding variant in a genetically unsolved case of PCD. The team used complementary RNA sequencing and targeted long-read DNA sequencing approaches to uncover a non-coding deletion in the 5’ untranslated region of the SPAG1 gene in a patient with PCD.

Results highlight the importance of investigating the non-coding genome in patients with “missing” disease-causing variants. Authors note that both RNA and long-read DNA sequencing can be used to identify pathogenic non-coding variants in patients with unexplained genetic diseases.

Wee WB, Gatt D, Seidl E, Santyr G, To T, Dell SD. Estimates of primary ciliary dyskinesia prevalence: a scoping review. ERJ Open Res. 2024 Aug 5;10(4):00989-2023. doi: 10.1183/23120541.00989-2023. PMID: 39104959; PMCID: PMC11299005.

Primary ciliary dyskinesia (PCD) is an inherited multisystem disease involving dysfunctional motile cilia that can impact mucociliary clearance, fertility, and organogenesis. Although PCD is considered the second-most common inherited airway disease after cystic fibrosis, it is not well-recognized globally due to its nonspecific clinical features and the lack of gold standard diagnostic testing.

In this article, the authors conducted a scoping review (using PRISMA-ScR methodology) of the current PCD literature to better understand the global prevalence of PCD. Authors also identify key considerations of different study designs and inform the reader about the potential unmet health service needs in PCD. 

Results found that the current best estimate for PCD global prevalence is one in 7,554, which was based on a genomic approach. Although this estimate is still considered conservative, this finding suggests that PCD is much more prevalent than previously thought and that there is an urgent need for more healthcare policies to accelerate improvements in PCD care, as well as expand services to underserved populations. 

Dougherty GW, Ostrowski LE, Nöthe-Menchen T, Raidt J, Schramm A, Olbrich H, Yin W, Sears PR, Dang H, Smith AJ, Beule AG, Hjeij R, Rutjes N, Haarman EG, Maas SM, Ferkol TW, Noone PG, Olivier KN, Bracht DC, Barbry P, Zaragosi LE, Fierville M, Kliesch S, Wohlgemuth K, König J, George S, Loges NT, Ceppe A, Markovetz MR, Luo H, Guo T, Rizk H, Eldesoky T, Dahlke K, Boldt K, Ueffing M, Hill DB, Pang YP, Knowles MR, Zariwala MA, Omran H. Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis. Am J Respir Crit Care Med. 2024 Jul 1;210(1):63-76. doi: 10.1164/rccm.202308-1370OC. PMID: 38626355; PMCID: PMC11197063.

Bronchiectasis is a progressive disorder in which the bronchi (air passages within the lungs that diverge from the windpipe) are permanently dilated and irreversibly scarred. Chronic respiratory disorders—including cystic fibrosis, primary ciliary dyskinesia, and primary immunodeficiency disorders—characterized by bronchiectasis have underlying genetic or environmental causes. However, most cases of bronchiectasis have unknown causes. 

In this study, researchers identified a new genetic cause in unsolved cases of bronchiectasis. The team performed next-generation sequencing to explore possible genetic defects in individuals with chronic respiratory symptoms who were not suspected to have cystic fibrosis or primary ciliary dyskinesia based on previous genetic testing.

Results revealed disease-causing variants in the WFDC2 gene in 11 individuals presenting with a unique and severe respiratory disorder characterized by bronchiectasis in all lung fields, chronic rhinosinusitis, and lung infection. This new cause of chronic destructive airway disease results from deficiency of the secreted WFDC2 protein. Authors note that the identification of this disease—which can be diagnosed with a commercially available blood test and genetic testing—adds to our understanding of the causes of bronchiectasis and may lead to improved treatment.

Despotes KA, Zariwala MA, Davis SD, Ferkol TW. Primary Ciliary Dyskinesia: A Clinical Review. Cells. 2024 Jun 4;13(11):974. doi: 10.3390/cells13110974.

Wee WB, Kinghorn B, Davis SD, Ferkol TW, Shapiro AJ. Primary Ciliary Dyskinesia. Pediatrics. 2024 Jun 1;153(6):e2023063064. doi: 10.1542/peds.2023-063064. PMID: 38695103; PMCID: PMC11153322.

Primary ciliary dyskinesia (PCD) is an inherited condition in which mucociliary clearance of the lungs is impaired, leading to accumulation of harmful particles and pathogens trapped within mucus. In the past two decades, research and international collaborations have led to a better understanding of PCD. However, PCD is still not well-known in clinical settings, with only a fraction of patients receiving an accurate diagnosis.

In this review paper, authors describe the latest advancements in PCD research. Topics include the range of clinical manifestations, cutting-edge diagnostic practices, new genotype-phenotype associations, and the latest management techniques for individuals with PCD.

Authors note that sharing these advancements will have important clinical impacts, including improved disease recognition, diagnostic testing, and management. Additionally, increased awareness of PCD could help boost enrollment in upcoming clinical trials for new therapies.

Kaspy KR, Dell SD, Davis SD, Ferkol TW, Rosenfeld M, Sagel SD, Milla C, Olivier KN, Barber AT, Wee W, Lin FC, Li L, Rampakakis E, Zariwala MA, Knowles MR, Leigh MW, Shapiro AJ. Situs Ambiguus Is Associated With Adverse Clinical Outcomes in Children With Primary Ciliary Dyskinesia. Chest. 2024 May;165(5):1070-1081. doi: 10.1016/j.chest.2023.12.005. Epub 2023 Dec 9. PMID: 38072392.

Primary ciliary dyskinesia (PCD) is a genetic disorder in which mucociliary clearance of the lungs is impaired. While most individuals with PCD have normal arrangement of organs in the abdomen and chest (situs solitus), some present with situs ambiguus (abnormal arrangement) or situs inversus totalis (mirror image of normal arrangement).

In this study, researchers compared the clinical outcomes of children with PCD and situs ambiguus to those with situs solitus or situs inversus totalis. The team categorized 397 participants with PCD aged 21 years or younger into situs groups, then evaluated markers of disease severity.

Results show that children with PCD and situs ambiguus have worse nutritional and pulmonary outcomes with more hospitalizations for acute respiratory illnesses than those with situs solitus or situs inversus totalis combined. Authors also note that these outcomes are associated with cardiovascular malformations requiring cardiac surgery, splenic anomalies, or both.

Dodd DO, Mechaussier S, Yeyati PL, McPhie F, Anderson JR, Khoo CJ, Shoemark A, Gupta DK, Attard T, Zariwala MA, Legendre M, Bracht D, Wallmeier J, Gui M, Fassad MR, Parry DA, Tennant PA, Meynert A, Wheway G, Fares-Taie L, Black HA, Mitri-Frangieh R, Faucon C, Kaplan J, Patel M, McKie L, Megaw R, Gatsogiannis C, Mohamed MA, Aitken S, Gautier P, Reinholt FR, Hirst RA, O'Callaghan C, Heimdal K, Bottier M, Escudier E, Crowley S, Descartes M, Jabs EW, Kenia P, Amiel J, Bacci GM, Calogero C, Palazzo V, Tiberi L, Blümlein U, Rogers A, Wambach JA, Wegner DJ, Fulton AB, Kenna M, Rosenfeld M, Holm IA, Quigley A, Hall EA, Murphy LC, Cassidy DM, von Kriegsheim A; Scottish Genomes Partnership16; Genomics England Research Consortium45; Undiagnosed Diseases Network46; Papon JF, Pasquier L, Murris MS, Chalmers JD, Hogg C, Macleod KA, Urquhart DS, Unger S, Aitman TJ, Amselem S, Leigh MW, Knowles MR, Omran H, Mitchison HM, Brown A, Marsh JA, Welburn JPI, Ti SC, Horani A, Rozet JM, Perrault I, Mill P. Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules. Science. 2024 Apr 26;384(6694):eadf5489. doi: 10.1126/science.adf5489. Epub 2024 Apr 26.

Gardner RA, Sagel SD, Knowles MR, Ferkol TW, Davis SD, Leigh MW, Zariwala MA. Decoding negative genetic panels in primary ciliary dyskinesia. Pediatr Pulmonol. 2024 Mar;59(3):784-787. doi: 10.1002/ppul.26790. Epub 2023 Dec 5.

Macaluso M, Rothenberg ME, Ferkol T, Kuhnell P, Kaminski HJ, Kimberlin DW, Benatar M, Chehade M; Principal Investigators of the Rare Diseases Clinical Research Network – Cycle 4. Impact of the COVID-19 Pandemic on People Living With Rare Diseases and Their Families: Results of a National Survey. JMIR Public Health Surveill. 2024 Feb 14;10:e48430. doi: 10.2196/48430.

Kim S, Li L, Lin FC, Stack T, Lamb MM, Mohammad I, Norris M, Klatt-Cromwell C, Thorp BD, Ebert CS Jr, Masters D, Senior BA, Askin FB, Kimple AJ. Histologic characterization of primary ciliary dyskinesia chronic rhinosinusitis. Int Forum Allergy Rhinol. 2023 Nov 23. doi: 10.1002/alr.23303. Epub ahead of print. PMID: 37997295

Primary ciliary dyskinesia (PCD) is an inherited condition in which mucociliary clearance of the lungs is impaired, leading to accumulation of harmful particles and pathogens trapped within mucus. In addition to lung disease, this results in chronic rhinosinusitis, where the lining of the sinuses becomes swollen, creates extra mucus, and interferes with drainage.

In this study, researchers characterized the histologic change (microscopic changes in tissues) of PCD-related chronic rhinosinusitis (PCD-CRS) in individuals with PCD who underwent sinus surgery. The team compared tissue samples from patients with PCD-CRS to those with cystic fibrosis-related chronic rhinosinusitis (CF-CRS), routine chronic rhinosinusitis without nasal polyps, and healthy controls.  

While sinus disease is generally mediated by eosinophils (a specific white blood cell) in PCD-CRS, neutrophils were the dominant immune cell in sinus tissue, similar to CF-CRS. As targeted therapies become available for CRS, understanding the pathogenesis of PCD-CRS becomes increasingly important.  

Stack TJ, Norris M, Mohammad I, Thorp BD, Klatt-Cromwell C, Ebert CS Jr, Senior BA, Kimple AJ. Response to letter to the editor regarding "Sinonasal quality of life in primary ciliary dyskinesia". Int Forum Allergy Rhinol. 2023 Nov 8. doi: 10.1002/alr.23297. Online ahead of print.

Ringshausen FC, Shapiro AJ, Nielsen KG, Mazurek H, Pifferi M, Donn KH, van der Eerden MM, Loebinger MR, Zariwala MA, Leigh MW, Knowles MR, Ferkol TW; CLEAN-PCD investigators and study team. Safety and efficacy of the epithelial sodium channel blocker idrevloride in people with primary ciliary dyskinesia (CLEAN-PCD): a multinational, phase 2, randomised, double-blind, placebo-controlled crossover trial. Lancet Respir Med. 2023 Aug 31:S2213-2600(23)00226-6. doi: 10.1016/S2213-2600(23)00226-6. Online ahead of print.

Chaskes MB, Lopez EM, Kong KA, Ebert CS Jr, Senior BA, Thorp BD, Kimple AJ. Primary ciliary dyskinesia: An update on contemporary diagnosis. 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. 

Hunter-Schouela J, Geraghty MT, Hegele RA, Dyment DA, St Pierre D, Richer J, Sheffield H, Zariwala MA, Knowles MR, Lehman A, Dell S, Shapiro AJ, Kovesi TA. First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit. Pediatr Pulmonol. 2023 Jul;58(7):1942-1949. doi: 10.1002/ppul.26414. Epub 2023 Apr 23.

Stack T, Norris M, Kim S, Lamb M, Zeatoun A, Mohammad I, Worden C, Thorp BD, Klatt-Cromwell C, Ebert CS Jr, Senior BA, Kimple AJ. Sinonasal quality of life in primary ciliary dyskinesia. Int Forum Allergy Rhinol. 2023 May 19. doi: 10.1002/alr.23180. Online ahead of print.

Beydon N, Kouis P, Marthin JK, Latzin P, Colas M, Davis SD, Haarman E, Harris AL, Hogg C, Kilbride E, Kuehni CE, Marangu D, Nielsen KG, Pendergrast C, Robinson P, Rumman N, Rutter M, Walker WT, Ferkol T, Lucas JS. Nasal nitric oxide measurement in children for the diagnosis of primary ciliary dyskinesia: European Respiratory Society technical standard. Eur Respir J. 2023 Apr 20;61(4):2202031. doi: 10.1183/13993003.02031-2022. Print 2023 Apr.

Kinghorn B, Rosenfeld M, Sullivan E, Onchiri F, Ferkol TW, Sagel SD, Dell SD, Milla C, Shapiro AJ, Sullivan KM, Zariwala MA, Pittman JE, Mollica F, Tiddens HAWM, Kemner-van de Corput M, Knowles MR, Davis SD, Leigh MW. Airway Disease in Children with Primary Ciliary Dyskinesia: Impact of Ciliary Ultrastructure Defect and Genotype. Ann Am Thorac Soc. 2023 Apr;20(4):539-547. doi: 10.1513/AnnalsATS.202206-524OC.

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. Laterality Defects in Primary Ciliary Dyskinesia: Relationship to Ultrastructural Defect or Genotype. 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.

Sagel SD, Kupfer O, Wagner BD, Davis SD, Dell SD, Ferkol TW, Hoppe JE, Rosenfeld M, Sullivan KM, Tiddens HAWM, Knowles MR, Leigh MW. Airway Inflammation in Children with Primary Ciliary Dyskinesia. 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.

Shapiro AJ, Sillon G, D'Agostino D, Baret L, López-Giráldez F, Mane S, Leigh MW, Davis SD, Knowles MR, Zariwala MA. HYDIN Variants Are a Common Cause of Primary Ciliary Dyskinesia in French Canadians. Ann Am Thorac. 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.

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. Association of Neonatal Hospital Length of Stay with Lung Function in Primary Ciliary Dyskinesia. 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.

Shapiro AJ, Stonebraker JR, Knowles MR, Zariwala MA. A Deep Intronic, Pathogenic Variant in DNAH11 Causes Primary Ciliary Dyskinesia. Am J Respir Cell Mol Biol. 2022 Oct;67(4):511-514. doi: 10.1165/rcmb.2022-0176LE.

Wee WB, Kaspy KR, Sawras MG, Knowles MR, Zariwala MA, Leigh MW, Dell SD, Shapiro AJ. Going beyond the chest X-ray: Investigating laterality defects in primary ciliary dyskinesia. 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.

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. Hereditary Mucin Deficiency Caused by Biallelic Loss of Function of MUC5B. 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.

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. The role of SPAG1 in the assembly of axonemal dyneins in human airway epithelia. J Cell Sci. 2022 Mar 15;135(6):jcs259512. doi: 10.1242/jcs.259512. Epub 2022 Mar 31.

Zawawi F, Shapiro AJ, Dell S, Wolter NE, Marchica CL, Knowles MR, Zariwala MA, Leigh MW, Smith M, Gajardo P, Daniel SJ. Otolaryngology Manifestations of Primary Ciliary Dyskinesia: A Multicenter Study. Otolaryngol Head Neck Surg. 2022 Mar;166(3):540-547. doi: 10.1177/01945998211019320. Epub 2021 Jun 22.

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. 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.

Barber AT, Davis SD, Boutros H, Zariwala M, Knowles MR, Leigh MW. Use caution interpreting nasal nitric oxide – overlap in primary ciliary dyskinesia and primary immunodeficiency. 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.

Brennan SK, Ferkol TW, Davis SD. Emerging Genotype-Phenotype Relationships in Primary Ciliary Dyskinesia. 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.

Shapiro AJ, Kaspy K, Daniels MLA, Stonebraker JR, Nguyen VH, Joyal L, Knowles MR, Zariwala MA. Autosomal dominant variants in FOXJ1 causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus. 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.

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

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

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

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

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

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

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. Access to medicines for rare diseases: beating the drum for primary ciliary dyskinesia. ERJ Open Res. 2020 Sep 14;6(3):00377-2020. doi: 10.1183/23120541.00377-2020. eCollection 2020 Jul.

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. Comparison of Multiple Breath Washout and Spirometry in Children with Primary Ciliary Dyskinesia and Cystic Fibrosis and Healthy Controls. Ann Am Thorac Soc. 2020 Sep;17(9):1085-1093. doi: 10.1513/AnnalsATS.201905-375OC.

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 Aug 7;16(8):e1008691. doi: 10.1371/journal.pgen.1008691. eCollection 2020 Aug.

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

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. A proposal for the addressing the needs of the pediatric pulmonary work force. Pediatr Pulmonol. 2020 Aug;55(8):1859-1867. doi: 10.1002/ppul.24856. Epub 2020 Jun 12.

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

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

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. A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance. Nat Med. 2020 Feb;26(2):244-251. doi: 10.1038/s41591-019-0730-x. Epub 2020 Jan 20.

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. Author Correction: A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance. Nat Med. 2020 Feb;26(2):300. doi: 10.1038/s41591-020-0773-z.

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

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

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

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

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 Jan;55(1):130-135. doi: 10.1002/ppul.24528. Epub 2019 Sep 23.

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

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 Dec;54(12):2021-2027. doi: 10.1002/ppul.24509. Epub 2019 Sep 12.

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

Wu UI, Olivier KN, Kuhns DB, Fink DL, Sampaio EP, Zelazny AM, Shallom SJ, Marciano BE, Lionakis MS, Holland SM. 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. Open Forum Infect Dis. 2019 Nov 28;6(12):ofz484. doi: 10.1093/ofid/ofz484. eCollection 2019 Dec.

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. De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry. Am J Hum Genet. 2019 Nov 7;105(5):1030-1039. doi: 10.1016/j.ajhg.2019.09.022. Epub 2019 Oct 17.

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

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

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

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. Human PI3Kγ deficiency and its microbiota-dependent mouse model reveal immunodeficiency and tissue immunopathology. Nat Commun. 2019 Sep 25;10(1):4364. doi: 10.1038/s41467-019-12311-5.

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

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. Recurring large deletion in DRC1 (CCDC164) identified as causing primary ciliary dyskinesia in two Asian patients. Mol Genet Genomic Med. 2019 Aug;7(8):e838. doi: 10.1002/mgg3.838. Epub 2019 Jul 4.

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. Lymphocyte-driven regional immunopathology in pneumonitis caused by impaired central immune tolerance. Sci Transl Med. 2019 Jun 5;11(495):eaav5597. doi: 10.1126/scitranslmed.aav5597.

Liou TG, Adler FR, Argel N, Asfour F, Brown PS, Chatfield BA, Daines CL, Durham D, Francis JA, Glover B, Heynekamp T, Hoidal JR, Jensen JL, Keogh R, Kopecky CM, Lechtzin N, Li Y, Lysinger J, Molina O, Nakamura C, Packer KA, Poch KR, Quittner AL, Radford P, Redway AJ, Sagel SD, Sprandel S, Taylor-Cousar JL, Vroom JB, Yoshikawa R, Clancy JP, Elborn JS, Olivier KN, Cox DR. Prospective multicenter randomized patient recruitment and sample collection to enable future measurements of sputum biomarkers of inflammation in an observational study of cystic fibrosis. BMC Med Res Methodol. 2019 Apr 26;19(1):88. doi: 10.1186/s12874-019-0705-0.

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. Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance. Am J Hum Genet. 2019 Feb 7;104(2):229-245. doi: 10.1016/j.ajhg.2018.12.009. Epub 2019 Jan 18.

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

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

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. Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype. Am J Respir Crit Care Med. 2019 Jan 15;199(2):190-198. doi: 10.1164/rccm.201803-0548OC.

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(1-2):51-75. doi: 10.3233/TRD-190036. Epub 2019 Jul 4.

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

Ghandourah H, Dell SD. Severe disease due to CCDC40 gene variants and the perils of late diagnosis in primary ciliary dyskinesia. BMJ Case Rep. 2018 Sep 12;2018:bcr2018224964. doi: 10.1136/bcr-2018-224964.

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

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 Jun 15;197(12):e24-e39. doi: 10.1164/rccm.201805-0819ST.

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. The Prevalence and Significance of Staphylococcus aureus in Patients with Non-Cystic Fibrosis Bronchiectasis. Ann Am Thorac Soc. 2018 Mar;15(3):365-370. doi: 10.1513/AnnalsATS.201706-426OC.

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

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

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. Growth and nutritional status, and their association with lung function: a study from the international Primary Ciliary Dyskinesia Cohort. Eur Respir J. 2017 Dec 21;50(6):1701659. doi: 10.1183/13993003.01659-2017. Print 2017 Dec.

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

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 Nov-Dec;41(6):373-385. doi: 10.1080/01913123.2017.1362088. Epub 2017 Sep 15.

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

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

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 Aug;14(8):1239-1247. doi: 10.1513/AnnalsATS.201705-406WS.

Shapiro AJ, Josephson M, Rosenfeld M, Yilmaz O, Davis SD, Polineni D, Guadagno E, Leigh MW, Lavergne V. 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 Jul;14(7):1184-1196. doi: 10.1513/AnnalsATS.201701-062SR.

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

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

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

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 Jan 4;49(1):1601090. doi: 10.1183/13993003.01090-2016. Print 2017 Jan.

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

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

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

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

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 Aug;13(8):1305-13. doi: 10.1513/AnnalsATS.201511-748OC.

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

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

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

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 Feb;51(2):115-32. doi: 10.1002/ppul.23304. Epub 2015 Sep 29.

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

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. Pulmonary Nontuberculous Mycobacterial Infection. A Multisystem, Multigenic Disease. Am J Respir Crit Care Med. 2015 Sep 1;192(5):618-28. doi: 10.1164/rccm.201502-0387OC.

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

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

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. Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. G3 (Bethesda). 2015 Jul 2;5(8):1775-81. doi: 10.1534/g3.115.019851.

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

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

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

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 Mar;3(2):137-42. doi: 10.1002/mgg3.124. Epub 2014 Dec 6.

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 Feb 1;191(3):316-24. doi: 10.1164/rccm.201409-1672OC.

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

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

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

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. Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy. Chest. 2014 Nov;146(5):1176-1186. doi: 10.1378/chest.13-1704.

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

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

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

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 Aug;38(4):248-55. doi: 10.3109/01913123.2013.815081. Epub 2013 Aug 19.

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. Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. Am J Respir Crit Care Med. 2014 Mar 15;189(6):707-17. doi: 10.1164/rccm.201311-2047OC.

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 Mar;11(3):351-9. doi: 10.1513/AnnalsATS.201306-194OC.

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

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 Dec;10(6):574-81. doi: 10.1513/AnnalsATS.201305-110OC.

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 Oct 15;188(8):913-22. doi: 10.1164/rccm.201301-0059CI.

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. Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. Am J Hum Genet. 2013 Oct 3;93(4):711-20. doi: 10.1016/j.ajhg.2013.07.025. Epub 2013 Sep 19.

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 Oct;34(10):1352-6. doi: 10.1002/humu.22371. Epub 2013 Aug 6.

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. DYX1C1 is required for axonemal dynein assembly and ciliary motility. Nat Genet. 2013 Sep;45(9):995-1003. doi: 10.1038/ng.2707. Epub 2013 Jul 21.

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. ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. Am J Hum Genet. 2013 Aug 8;93(2):357-67. doi: 10.1016/j.ajhg.2013.06.009. Epub 2013 Jul 11.

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 Aug 8;93(2):336-45. doi: 10.1016/j.ajhg.2013.06.007. Epub 2013 Jul 25.

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. Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities. J Pediatr. 2013 Aug;163(2):383-7. doi: 10.1016/j.jpeds.2013.01.061. Epub 2013 Mar 7.

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. Abnormal nasal nitric oxide production, ciliary beat frequency, and Toll-like receptor response in pulmonary nontuberculous mycobacterial disease epithelium. Am J Respir Crit Care Med. 2013 Jun 15;187(12):1374-81. doi: 10.1164/rccm.201212-2197OC.

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. Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. Hum Mutat. 2013 Mar;34(3):462-72. doi: 10.1002/humu.22261. Epub 2013 Feb 11.

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

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. Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. Am J Hum Genet. 2013 Jan 10;92(1):99-106. doi: 10.1016/j.ajhg.2012.11.003. Epub 2012 Dec 20.

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 Oct 5;91(4):685-93. doi: 10.1016/j.ajhg.2012.08.022.

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. High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy. Circulation. 2012 May 8;125(18):2232-42. doi: 10.1161/CIRCULATIONAHA.111.079780. Epub 2012 Apr 12.

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

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 May;67(5):433-41. doi: 10.1136/thoraxjnl-2011-200301. Epub 2011 Dec 18.

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

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

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

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

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. Diagnostic yield of nasal scrape biopsies in primary ciliary dyskinesia: a multicenter experience. Pediatr Pulmonol. 2011 May;46(5):483-8. doi: 10.1002/ppul.21402. Epub 2011 Jan 31.

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

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. Primary ciliary dyskinesia in Amish communities. J Pediatr. 2010 Jun;156(6):1023-1025. doi: 10.1016/j.jpeds.2010.01.054. Epub 2010 Mar 29.

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. Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. Am J Hum Genet. 2009 Dec;85(6):883-9. doi: 10.1016/j.ajhg.2009.10.018.

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

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

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

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

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. A heterozygous mutation disrupting the SPAG16 gene results in biochemical instability of central apparatus components of the human sperm axoneme. Biol Reprod. 2007 Nov;77(5):864-71. doi: 10.1095/biolreprod.107.063206. Epub 2007 Aug 15.

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

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. Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia. Circulation. 2007 Jun 5;115(22):2814-21. doi: 10.1161/CIRCULATIONAHA.106.649038. Epub 2007 May 21.

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

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

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

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

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

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. Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. Am J Respir Crit Care Med. 2006 Oct 15;174(8):858-66. doi: 10.1164/rccm.200603-370OC. Epub 2006 Jul 20.

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