Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report PM Farrell, BJ Rosenstein, TB White, FJ Accurso, C Castellani, ... The Journal of pediatrics 153 (2), S4-S14, 2008 | 1296 | 2008 |
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice C Castellani, H Cuppens, M Macek Jr, JJ Cassiman, E Kerem, P Durie, ... Journal of cystic fibrosis 7 (3), 179-196, 2008 | 877 | 2008 |
The future of cystic fibrosis care: a global perspective SC Bell, MA Mall, H Gutierrez, M Macek, S Madge, JC Davies, PR Burgel, ... The Lancet Respiratory Medicine 8 (1), 65-124, 2020 | 805 | 2020 |
ECFS best practice guidelines: the 2018 revision C Castellani, AJA Duff, SC Bell, HGM Heijerman, A Munck, F Ratjen, ... Journal of cystic fibrosis 17 (2), 153-178, 2018 | 751 | 2018 |
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene PR Sosnay, KR Siklosi, F Van Goor, K Kaniecki, H Yu, N Sharma, ... Nature genetics 45 (10), 1160-1167, 2013 | 687 | 2013 |
Cystic fibrosis: terminology and diagnostic algorithms K De Boeck, M Wilschanski, C Castellani, C Taylor, H Cuppens, J Dodge, ... Thorax 61 (7), 627-635, 2006 | 587 | 2006 |
Recommendations for the classification of diseases as CFTR-related disorders C Bombieri, M Claustres, K De Boeck, N Derichs, J Dodge, E Girodon, ... Journal of Cystic Fibrosis 10, S86-S102, 2011 | 484 | 2011 |
Genetic modifiers of liver disease in cystic fibrosis JR Bartlett, KJ Friedman, SC Ling, RG Pace, SC Bell, B Bourke, ... Jama 302 (10), 1076-1083, 2009 | 342 | 2009 |
European best practice guidelines for cystic fibrosis neonatal screening C Castellani, KW Southern, K Brownlee, JD Roelse, A Duff, M Farrell, ... Journal of Cystic Fibrosis 8 (3), 153-173, 2009 | 339 | 2009 |
A survey of newborn screening for cystic fibrosis in Europe KW Southern, A Munck, R Pollitt, G Travert, L Zanolla, J Dankert-Roelse, ... Journal of Cystic Fibrosis 6 (1), 57-65, 2007 | 328 | 2007 |
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders–updated European recommendations E Dequeker, M Stuhrmann, MA Morris, T Casals, C Castellani, ... European Journal of Human Genetics 17 (1), 51-65, 2009 | 321 | 2009 |
A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis H Witt, M Sahin-Tóth, O Landt, JM Chen, T Kähne, JPH Drenth, Z Kukor, ... Nature genetics 38 (6), 668-673, 2006 | 290 | 2006 |
Type of CFTR mutation determines risk of pancreatitis in patients with cystic fibrosis CY Ooi, R Dorfman, M Cipolli, T Gonska, C Castellani, K Keenan, ... Gastroenterology 140 (1), 153-161, 2011 | 279 | 2011 |
Cystic fibrosis: a clinical view C Castellani, BM Assael Cellular and molecular life sciences 74 (1), 129-140, 2017 | 266 | 2017 |
Cystic Fibrosis Foundation. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report PM Farrell, BJ Rosenstein, TB White, FJ Accurso, C Castellani, ... J Pediatr 153 (2), S4-S14, 2008 | 214 | 2008 |
Newborn screening for cystic fibrosis C Castellani, J Massie, M Sontag, KW Southern The Lancet Respiratory Medicine 4 (8), 653-661, 2016 | 173 | 2016 |
A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis SJ Mayell, A Munck, JV Craig, I Sermet, KG Brownlee, MJ Schwarz, ... Journal of Cystic Fibrosis 8 (1), 71-78, 2009 | 163 | 2009 |
Report of the European Respiratory Society/European Cystic Fibrosis Society task force on the care of adults with cystic fibrosis JS Elborn, SC Bell, SL Madge, PR Burgel, C Castellani, S Conway, ... European Respiratory Journal 47 (2), 420-428, 2016 | 153 | 2016 |
Inconclusive diagnosis of cystic fibrosis after newborn screening CY Ooi, C Castellani, K Keenan, J Avolio, S Volpi, M Boland, T Kovesi, ... Pediatrics 135 (6), e1377-e1385, 2015 | 143 | 2015 |
The expansion and performance of national newborn screening programmes for cystic fibrosis in Europe J Barben, C Castellani, J Dankert-Roelse, S Gartner, N Kashirskaya, ... Journal of Cystic Fibrosis 16 (2), 207-213, 2017 | 130 | 2017 |