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Prevention of cystic fibrosis: The beginning of the end?

Ferkol TW.

Sci Transl Med. 2019 Mar 27;11(485). pii: eaax2361. doi: 10.1126/scitranslmed.aax2361. Review.


Early respiratory viral infections in infants with cystic fibrosis.

Deschamp AR, Hatch JE, Slaven JE, Gebregziabher N, Storch G, Hall GL, Stick S, Ranganathan S, Ferkol TW, Davis SD.

J Cyst Fibros. 2019 Feb 27. pii: S1569-1993(18)30804-X. doi: 10.1016/j.jcf.2019.02.004. [Epub ahead of print]


Black Race Is Associated with a Lower Risk of Bronchopulmonary Dysplasia.

Ryan RM, Feng R, Bazacliu C, Ferkol TW, Ren CL, Mariani TJ, Poindexter BB, Wang F, Moore PE; Prematurity and Respiratory Outcome Program (PROP) Investigators.

J Pediatr. 2019 Apr;207:130-135.e2. doi: 10.1016/j.jpeds.2018.11.025. Epub 2019 Jan 4.


Differences in the lower airway microbiota of infants with and without cystic fibrosis.

Frayman KB, Wylie KM, Armstrong DS, Carzino R, Davis SD, Ferkol TW, Grimwood K, Storch GA, Ranganathan SC.

J Cyst Fibros. 2018 Dec 20. pii: S1569-1993(18)30941-X. doi: 10.1016/j.jcf.2018.12.003. [Epub ahead of print]


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.


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.


Electronic cigarette use in youths: a position statement of the Forum of International Respiratory Societies.

Ferkol TW, Farber HJ, La Grutta S, Leone FT, Marshall HM, Neptune E, Pisinger C, Vanker A, Wisotzky M, Zabert GE, Schraufnagel DE; Forum of International Respiratory Societies.

Eur Respir J. 2018 May 30;51(5). pii: 1800278. doi: 10.1183/13993003.00278-2018. Print 2018 May.


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. Review.


Twenty Facts About Cystic Fibrosis.

Sockrider MM, Ferkol TW.

Am J Respir Crit Care Med. 2017 Dec 15;196(12):P23-P24. doi: 10.1164/rccm.19612P23. No abstract available.


Comment on: Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features of dyskeratosis congenita and IMAGe association.

Wilson DB, Bessler M, Ferkol TW, Shenoy S, Amano N, Ishii T, Shima H, Narumi S.

Pediatr Blood Cancer. 2018 Jan;65(1). doi: 10.1002/pbc.26747. Epub 2017 Aug 17. No abstract available.


Association of Antibiotics, Airway Microbiome, and Inflammation in Infants with Cystic Fibrosis.

Pittman JE, Wylie KM, Akers K, Storch GA, Hatch J, Quante J, Frayman KB, Clarke N, Davis M, Stick SM, Hall GL, Montgomery G, Ranganathan S, Davis SD, Ferkol TW; Australian Respiratory Early Surveillance Team for Cystic Fibrosis.

Ann Am Thorac Soc. 2017 Oct;14(10):1548-1555. doi: 10.1513/AnnalsATS.201702-121OC.


The lower airway microbiota in early cystic fibrosis lung disease: a longitudinal analysis.

Frayman KB, Armstrong DS, Carzino R, Ferkol TW, Grimwood K, Storch GA, Teo SM, Wylie KM, Ranganathan SC.

Thorax. 2017 Dec;72(12):1104-1112. doi: 10.1136/thoraxjnl-2016-209279. Epub 2017 Mar 9.


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.


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.


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. Review.


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. Review.


Outcomes and Treatment of Chronic Methicillin-Resistant Staphylococcus aureus Differs by Staphylococcal Cassette Chromosome mec (SCCmec) Type in Children With Cystic Fibrosis.

Heltshe SL, Saiman L, Popowitch EB, Miller MB, Kloster M, Thompson V, Ferkol TW, Hoover WC, Schechter MS, Muhlebach MS.

J Pediatric Infect Dis Soc. 2015 Sep;4(3):225-31. doi: 10.1093/jpids/piu048. Epub 2014 Jun 9.


Such Are the Impositions of Quackery: E-Cigarettes.

Leone FT, Ferkol TW.

Ann Am Thorac Soc. 2015 Jun;12(6):787-8. doi: 10.1513/AnnalsATS.201504-252ED. No abstract available.


Official American Thoracic Society technical standards: flexible airway endoscopy in children.

Faro A, Wood RE, Schechter MS, Leong AB, Wittkugel E, Abode K, Chmiel JF, Daines C, Davis S, Eber E, Huddleston C, Kilbaugh T, Kurland G, Midulla F, Molter D, Montgomery GS, Retsch-Bogart G, Rutter MJ, Visner G, Walczak SA, Ferkol TW, Michelson PH; American Thoracic Society Ad Hoc Committee on Flexible Airway Endoscopy in Children.

Am J Respir Crit Care Med. 2015 May 1;191(9):1066-80. doi: 10.1164/rccm.201503-0474ST.


The Evolution of Cystic Fibrosis Care.

Pittman JE, Ferkol TW.

Chest. 2015 Aug;148(2):533-542. doi: 10.1378/chest.14-1997. Review.


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.


Response to Snijders et al.

Horani A, Brody SL, Ferkol TW.

Pediatr Res. 2014 Sep;76(3):322. doi: 10.1038/pr.2014.80. Epub 2014 Jun 16. No abstract available.


Sources of methodological variability in phase angles from respiratory inductance plethysmography in preterm infants.

Ulm LN, Hamvas A, Ferkol TW, Rodriguez OM, Cleveland CM, Linneman LA, Hoffmann JA, Sicard-Su MJ, Kemp JS.

Ann Am Thorac Soc. 2014 Jun;11(5):753-60. doi: 10.1513/AnnalsATS.201310-363OC.


The global burden of respiratory disease-impact on child health.

Zar HJ, Ferkol TW.

Pediatr Pulmonol. 2014 May;49(5):430-4. doi: 10.1002/ppul.23030. Epub 2014 Mar 9.


L-plastin is essential for alveolar macrophage production and control of pulmonary pneumococcal infection.

Deady LE, Todd EM, Davis CG, Zhou JY, Topcagic N, Edelson BT, Ferkol TW, Cooper MA, Muenzer JT, Morley SC.

Infect Immun. 2014 May;82(5):1982-93. doi: 10.1128/IAI.01199-13. Epub 2014 Mar 4.


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. Review.


Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.

Austin-Tse C, Halbritter J, Zariwala MA, Gilberti RM, Gee HY, Hellman N, Pathak N, Liu Y, Panizzi JR, Patel-King RS, Tritschler D, Bower R, O'Toole E, Porath JD, Hurd TW, Chaki M, Diaz KA, Kohl S, Lovric S, Hwang DY, Braun DA, Schueler M, Airik R, Otto EA, Leigh MW, Noone PG, Carson JL, Davis SD, Pittman JE, Ferkol TW, Atkinson JJ, Olivier KN, Sagel SD, Dell SD, Rosenfeld M, Milla CE, Loges NT, Omran H, Porter ME, King SM, Knowles MR, Drummond IA, Hildebrandt F.

Am J Hum Genet. 2013 Oct 3;93(4):672-86. doi: 10.1016/j.ajhg.2013.08.015.


FDG PET imaging in cystic fibrosis.

Chen DL, Atkinson JJ, Ferkol TW.

Semin Nucl Med. 2013 Nov;43(6):412-9. doi: 10.1053/j.semnuclmed.2013.06.002. Review.


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.


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.


CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia.

Horani A, Brody SL, Ferkol TW, Shoseyov D, Wasserman MG, Ta-shma A, Wilson KS, Bayly PV, Amirav I, Cohen-Cymberknoh M, Dutcher SK, Elpeleg O, Kerem E.

PLoS One. 2013 Aug 26;8(8):e72299. doi: 10.1371/journal.pone.0072299. eCollection 2013.


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.


LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects.

Horani A, Ferkol TW, Shoseyov D, Wasserman MG, Oren YS, Kerem B, Amirav I, Cohen-Cymberknoh M, Dutcher SK, Brody SL, Elpeleg O, Kerem E.

PLoS One. 2013;8(3):e59436. doi: 10.1371/journal.pone.0059436. Epub 2013 Mar 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.


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.


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.


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.


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.


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. Review. No abstract available.


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. Review.


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.


Hitting the target: new treatments for cystic fibrosis.

Davis SD, Ferkol TW.

Am J Respir Crit Care Med. 2010 Dec 15;182(12):1460-1. doi: 10.1164/rccm.201008-1311ED. No abstract available.


Effect of polarized release of CXC-chemokines from wild-type and cystic fibrosis murine airway epithelial cells.

Farberman MM, Ibricevic A, Joseph TD, Akers KT, Garcia-Medina R, Crosby S, Clarke LL, Brody SL, Ferkol TW.

Am J Respir Cell Mol Biol. 2011 Aug;45(2):221-8. doi: 10.1165/rcmb.2009-0249OC. Epub 2010 Jul 16.


IL-10 delivery by AAV5 vector attenuates inflammation in mice with Pseudomonas pneumonia.

Buff SM, Yu H, McCall JN, Caldwell SM, Ferkol TW, Flotte TR, Virella-Lowell IL.

Gene Ther. 2010 May;17(5):567-76. doi: 10.1038/gt.2010.28. Epub 2010 Apr 1.


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.


Aquagenic wrinkling of the palms in cystic fibrosis: comparison with controls and genotype-phenotype correlations.

Berk DR, Ciliberto HM, Sweet SC, Ferkol TW, Bayliss SJ.

Arch Dermatol. 2009 Nov;145(11):1296-9. doi: 10.1001/archdermatol.2009.260.


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. Review.


[18F]fluorodeoxyglucose positron emission tomography for lung antiinflammatory response evaluation.

Chen DL, Bedient TJ, Kozlowski J, Rosenbluth DB, Isakow W, Ferkol TW, Thomas B, Mintun MA, Schuster DP, Walter MJ.

Am J Respir Crit Care Med. 2009 Sep 15;180(6):533-9. doi: 10.1164/rccm.200904-0501OC. Epub 2009 Jul 2.


Airway inflammation in cystic fibrosis.

Elizur A, Cannon CL, Ferkol TW.

Chest. 2008 Feb;133(2):489-95. doi: 10.1378/chest.07-1631. Review.


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