Publications by the ECFS DNWG:

The ECFS DNWG has published an algorithm on the diagnosis of CF and subsequently validated it multicentrally across Europe:

  • De Boeck K, Wilschanski M, Castellani C, Taylor C, Cuppens H, Dodge J, Sinaasappel M; Diagnostic Working Group. Cystic fibrosis: terminology and diagnostic algorithms. Thorax 2006;61(7):627-35.
  • Goubau C, Wilschanski M, Skalicka V, Lebecque P, Southern K, Sermet I, Munck A, Derichs N, Middleton P, Hjelte L, Padoan R, Vasar M, De Boeck K. Phenotypic characterization of patients with intermediate sweat chloride values: towards validation of the European diagnostic algorithm for cystic fibrosis. Thorax 2009; 64(8):683-91.


Also, several publications on specific diagnostic aspects in CF have been published by the ECFS DNWG and its members:

  • Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A new designation and management recommendations for infants with an inconclusive diagnosis following newborn screening. Munck A, Mayell SJ, Winters V, Shawcross A, Derichs N, Parad R, Barben J, Southern KW.J Cyst Fibros 2015 Jan 24. 
  • Nasal potential difference: Best or average result for CFTR function as diagnostic criteria for cystic fibrosis? Keenan K, Avolio J, Rueckes-Nilges C, Tullis E, Gonska T, Naehrlich L. J Cyst Fibros 2014 Oct 6. pii:S1569-1993(14)00217-3.
  • CFTR functional measurements in human models for diagnosis, prognosis and personalized therapy: Report on the pre-conference meeting to the 11th ECFS Basic Science Conference, Malta, 26-29 March 2014. Beekman JM, Sermet-Gaudelus I, de Boeck K, Gonska T, Derichs N, Mall MA, Mehta A, Martin U, Drumm M, Amaral MD. J Cyst Fibros 2014 Jul;13(4):363-72.  
  • De Boeck K, Zolin A, Cuppens H, Olesen HV, Viviani L. The relative frequency of CFTR mutation classes in European patients with cystic fibrosis. J Cyst Fibros 2014; 13(4): 403-9.  
  • Thomas M, Lemonnier L, Gulmans V, Naehrlich L, Vermeulen F, Cuppens H, Castellani C, Norek A, De Boeck K. Is there evidence for correct diagnosis in cystic fibrosis registries? J Cyst Fibros 2013 Nov 22 Epub.
  • Naehrlich L, Ballmann M, Davies J, Derichs N, Gonska T, Hjelte L, van Konigsbruggen-Rietschel S, Leal T, Melotti P, Middleton P, Tümmler B, Vermeulen F, Wilschanski M; on behalf of the ECFS Diagnostic Network Working Group. Nasal potential difference measurements in diagnosis of cystic fibrosis: An international survey. J Cyst Fibros 2014;13(1):24-8.
  • Derichs N, Pinders-Kessler L, Bronsveld I, Scheinert S, Rückes-Nilges C, de Jonge HR, Naehrlich L. Multicenter European standardization and reference values for intestinal current measurement in rectal biopsies. Pediatr Pulmonol 2013; 48(S36):300.
  • De Boeck K, Kent L, Davies J, Derichs N, Amaral M, Rowe S, Middleton P, de Jonge H, Bronsveld I, Wilschanski M, Melotti P, Danner-Boucher I, Boerner S, Fajac I, Southern K, de Nooijer R, Bot A, de Rijke Y, de Wachter E, Leal T, Vermeulen F, J Hug M, Rault G, Nguyen-Khoa T, Barreto C, Proesmans M, Sermet-Gaudelus I; On behalf of the European Cystic Fibrosis Society Clinical Trial Network Standardisation Committee. CFTR biomarkers: time for promotion to surrogate endpoint? Eur Respir J 2013; 41(1):203-216.
  • De Boeck K, Derichs N, Fajac I, de Jonge HR, Bronsveld I, Sermet I, Vermeulen F, Sheppard DN, Cuppens H, Hug M, Melotti P, Middleton PG, Wilschanski M. ECFS Diagnostic Network Working Group. New clinical diagnostic procedures for cystic fibrosis in Europe. J Cyst Fibros 2011; 10 Suppl 2:S53-66.
  • Bombieri C, Claustres M, De Boeck K, Derichs N, Dodge J, Girodon E, Sermet I, Schwarz M, Tzetis M, Wilschanski M, Bareil C, Bilton D, Castellani C, Cuppens H, Cutting GR, Drevinek P, Farrell P, Elborn JS, Jarvi K, Kerem B, Kerem E, Knowles M, Macek M Jr, Munck A, Radojkovic D, Seia M, Sheppard DN, Southern KW, Stuhrmann M, Tullis E, Zielenski J, Pignatti PF, Ferec C. Recommendations for the classification of diseases as CFTR-related disorders. J Cyst Fibros 2011; 10 Suppl 2:S86-S102.
  • Derichs N, Sanz J, von Kaenel T, Stolpe C, Zapf A, Tümmler B, Gallati S, Ballmann M. Intestinal current measurement for diagnostic classification of patients with questionable cystic fibrosis: validation and reference data. Thorax 2010; 65(7):594-99.
  • Sermet-Gaudelus I, Girodon E, Roussel D, Deneuville E, Bui S, Huet F, Guillot M, Aboutaam R, Renouil M, Munck A, des Georges M, Iron A, Thauvin-Robinet C, Fajac I, Lenoir G, Roussey M, Edelman A. Measurement of nasal potential difference in young children with an equivocal sweat test following newborn screening for cystic fibrosis. Thorax 2010; 65(6): 539-44.
  • Bronsveld I, Sinaasappel M, Southern KW, Sermet-Gaudelus I, Leal T, Melotti P, Ballmann M, Hjelte L, Middleton PG, De Boeck K, Wilschanski M. Evaluation of European protocols for measuring nasal potential differences. J Cyst Fibros 2009; 8(S2):10.
  • Derichs N, Bronsveld I, Sousa M, Hug MJ, Yaakov Y, Ballmann M, Amaral M, Wilschanski M, de Jonge H. Intestinal Current Measurement (ICM) in Europe: towards a harmonised protocol for clinical trials in cystic fibrosis. J Cyst Fibros 2009; 8(S2):123.
  • Mayell SJ, Munck A, Craig JV, Sermet I, Brownlee KG, Schwarz MJ, Castellani C, Southern KW; European Cystic Fibrosis Society Neonatal Screening Working Group. A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis. J Cyst Fibros 2009;8:71-8.
  • Dequeker E, Stuhrmann M, Morris MA, Casals T, Castellani C, Claustres M, Cuppens H, des Georges M, Ferec C, Macek M, Pignatti PF, Scheffer H, Schwartz M, Witt M, Schwarz M, Girodon E. Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders-updated European recommendations. Eur J Hum Genet 2009;17(1):51-65.
  • Wilschanski M, Dupuis A, Ellis L, Jarvi K, Zielenski J, Tullis E, Martin S, Corey M, Tsui LC, Durie P. Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials. Am J Respir Crit Care Med 2006;174:787-94.
  • De Jonge HR, Ballmann M, Veeze H, Bronsveld I, Stanke F, Tümmler B, Sinaasappel M. Ex vivo CF diagnosis by intestinal current measurements (ICM) in small aperture, circulating Ussing chambers. J Cyst Fibros 2004;3 Suppl 2:159-63.
  • Schüler D, Sermet-Gaudelus I, Wilschanski M, Ballmann M, Dechaux M, Edelman A, Hug M, Leal T, Lebacq J, Lebecque P, Lenoir G, Stanke F, Wallemacq P, Tümmler B, Knowles MR. Basic protocol for transepithelial nasal potential difference measurements. J Cyst Fibros. 2004;3 Suppl 2:151-5.