Etiology
Aliberti S,
Ringshausen FC,
Dhar R,
Haworth CS,
Loebinger MR,
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De Soyza A,
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de Roux A,
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Bossios A,
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Amorim A,
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Van Braeckel E,
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Shteinberg M,
Boersma W,
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Elborn JS,
Hill AT,
Welte T,
Blasi F,
Polverino E,
Chalmers JD;
EMBARC Registry Investigators
Eur Respir J
2024 Apr;63(4)
Epub 2024 Apr 18
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Schreck LD,
Goutaki M,
Jörger P,
Dexter K,
Manion M,
Christin-Maitre S,
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Pediatr Pulmonol
2024 Feb;59(2):281-290.
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Gur M,
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Pediatr Pulmonol
2023 Nov;58(11):3264-3270.
Epub 2023 Aug 30
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Gatt D,
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Pediatr Pulmonol
2023 Oct;58(10):2857-2864.
Epub 2023 Jul 14
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Wheway G,
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Racher H,
Phelps IG,
Toedt G,
Kennedy J,
Wunderlich KA,
Sorusch N,
Abdelhamed ZA,
Natarajan S,
Herridge W,
van Reeuwijk J,
Horn N,
Boldt K,
Parry DA,
Letteboer SJF,
Roosing S,
Adams M,
Bell SM,
Bond J,
Higgins J,
Morrison EE,
Tomlinson DC,
Slaats GG,
van Dam TJP,
Huang L,
Kessler K,
Giessl A,
Logan CV,
Boyle EA,
Shendure J,
Anazi S,
Aldahmesh M,
Al Hazzaa S,
Hegele RA,
Ober C,
Frosk P,
Mhanni AA,
Chodirker BN,
Chudley AE,
Lamont R,
Bernier FP,
Beaulieu CL,
Gordon P,
Pon RT,
Donahue C,
Barkovich AJ,
Wolf L,
Toomes C,
Thiel CT,
Boycott KM,
McKibbin M,
Inglehearn CF;
UK10K Consortium;
University of Washington Center for Mendelian Genomics,
Stewart F,
Omran H,
Huynen MA,
Sergouniotis PI,
Alkuraya FS,
Parboosingh JS,
Innes AM,
Willoughby CE,
Giles RH,
Webster AR,
Ueffing M,
Blacque O,
Gleeson JG,
Wolfrum U,
Beales PL,
Gibson T,
Doherty D,
Mitchison HM,
Roepman R,
Johnson CA
Nat Cell Biol
2015 Aug;17(8):1074-1087.
Epub 2015 Jul 13
doi: 10.1038/ncb3201.
PMID: 26167768Free PMC Article
Diagnosis
Mapala L,
Kumar M,
Canakis AM,
Hailu E,
Kopel LS,
Shapiro AJ
J Perinatol
2024 Nov;44(11):1700-1706.
Epub 2024 Jul 24
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PMID: 39048631
Aliberti S,
Ringshausen FC,
Dhar R,
Haworth CS,
Loebinger MR,
Dimakou K,
Crichton ML,
De Soyza A,
Vendrell M,
Burgel PR,
McDonnell M,
Skrgat S,
Maiz Carro L,
de Roux A,
Sibila O,
Bossios A,
van der Eerden M,
Kauppi P,
Wilson R,
Milenkovic B,
Menendez R,
Murris M,
Borekci S,
Munteanu O,
Obradovic D,
Nowinski A,
Amorim A,
Torres A,
Lorent N,
Van Braeckel E,
Altenburg J,
Shoemark A,
Shteinberg M,
Boersma W,
Goeminne PC,
Elborn JS,
Hill AT,
Welte T,
Blasi F,
Polverino E,
Chalmers JD;
EMBARC Registry Investigators
Eur Respir J
2024 Apr;63(4)
Epub 2024 Apr 18
doi: 10.1183/13993003.01554-2023.
PMID: 38609095Free PMC Article
Schreck LD,
Goutaki M,
Jörger P,
Dexter K,
Manion M,
Christin-Maitre S,
Maitre B;
COVID-PCD Patient Advisory Group,
Kuehni CE,
Pedersen ESL
Pediatr Pulmonol
2024 Feb;59(2):281-290.
Epub 2023 Nov 7
doi: 10.1002/ppul.26743.
PMID: 37933800
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Sci Rep
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Paediatr Respir Rev
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Therapy
Gatt D,
Shaw M,
Waters V,
Kritzinger F,
Solomon M,
Dell S,
Ratjen F
Pediatr Pulmonol
2023 Oct;58(10):2857-2864.
Epub 2023 Jul 14
doi: 10.1002/ppul.26599.
PMID: 37449771
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Thorax
2015 Apr;70(4):339-45.
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PMID: 25673230
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Panosian JS
Chest
2013 Dec;144(6):1883-1892.
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Phillips GE,
Thomas S,
Heather S,
Bush A
Eur Respir J
1998 Jun;11(6):1389-91.
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Prognosis
Shi Y,
Lei Q,
Han Q
Medicine (Baltimore)
2023 Dec 29;102(52):e36271.
doi: 10.1097/MD.0000000000036271.
PMID: 38206729Free PMC Article
Gatt D,
Shaw M,
Waters V,
Kritzinger F,
Solomon M,
Dell S,
Ratjen F
Pediatr Pulmonol
2023 Oct;58(10):2857-2864.
Epub 2023 Jul 14
doi: 10.1002/ppul.26599.
PMID: 37449771
Koucký V,
Uhlík J,
Hoňková L,
Komárek A,
Pohunek P
Am J Physiol Lung Cell Mol Physiol
2023 Aug 1;325(2):L125-L134.
Epub 2023 Jun 6
doi: 10.1152/ajplung.00058.2023.
PMID: 37280505
Fein V,
Maier C,
Schlegtendal A,
Denz R,
Koerner-Rettberg C,
Brinkmann F
Pediatr Pulmonol
2023 Jul;58(7):1950-1958.
Epub 2023 Apr 25
doi: 10.1002/ppul.26417.
PMID: 37096790
Pensabene M,
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Hassan V,
Piotto M,
Patria MF
Pediatr Pulmonol
2023 Apr;58(4):1051-1058.
Epub 2022 Dec 29
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PMID: 36571235
Clinical prediction guides
Aliberti S,
Ringshausen FC,
Dhar R,
Haworth CS,
Loebinger MR,
Dimakou K,
Crichton ML,
De Soyza A,
Vendrell M,
Burgel PR,
McDonnell M,
Skrgat S,
Maiz Carro L,
de Roux A,
Sibila O,
Bossios A,
van der Eerden M,
Kauppi P,
Wilson R,
Milenkovic B,
Menendez R,
Murris M,
Borekci S,
Munteanu O,
Obradovic D,
Nowinski A,
Amorim A,
Torres A,
Lorent N,
Van Braeckel E,
Altenburg J,
Shoemark A,
Shteinberg M,
Boersma W,
Goeminne PC,
Elborn JS,
Hill AT,
Welte T,
Blasi F,
Polverino E,
Chalmers JD;
EMBARC Registry Investigators
Eur Respir J
2024 Apr;63(4)
Epub 2024 Apr 18
doi: 10.1183/13993003.01554-2023.
PMID: 38609095Free PMC Article
Gatt D,
Shaw M,
Waters V,
Kritzinger F,
Solomon M,
Dell S,
Ratjen F
Pediatr Pulmonol
2023 Oct;58(10):2857-2864.
Epub 2023 Jul 14
doi: 10.1002/ppul.26599.
PMID: 37449771
Asfuroglu P,
Ramasli Gursoy T,
Sismanlar Eyuboglu T,
Aslan AT
Pediatr Pulmonol
2021 Aug;56(8):2717-2723.
Epub 2021 Jun 21
doi: 10.1002/ppul.25533.
PMID: 34133086
Wheway G,
Schmidts M,
Mans DA,
Szymanska K,
Nguyen TT,
Racher H,
Phelps IG,
Toedt G,
Kennedy J,
Wunderlich KA,
Sorusch N,
Abdelhamed ZA,
Natarajan S,
Herridge W,
van Reeuwijk J,
Horn N,
Boldt K,
Parry DA,
Letteboer SJF,
Roosing S,
Adams M,
Bell SM,
Bond J,
Higgins J,
Morrison EE,
Tomlinson DC,
Slaats GG,
van Dam TJP,
Huang L,
Kessler K,
Giessl A,
Logan CV,
Boyle EA,
Shendure J,
Anazi S,
Aldahmesh M,
Al Hazzaa S,
Hegele RA,
Ober C,
Frosk P,
Mhanni AA,
Chodirker BN,
Chudley AE,
Lamont R,
Bernier FP,
Beaulieu CL,
Gordon P,
Pon RT,
Donahue C,
Barkovich AJ,
Wolf L,
Toomes C,
Thiel CT,
Boycott KM,
McKibbin M,
Inglehearn CF;
UK10K Consortium;
University of Washington Center for Mendelian Genomics,
Stewart F,
Omran H,
Huynen MA,
Sergouniotis PI,
Alkuraya FS,
Parboosingh JS,
Innes AM,
Willoughby CE,
Giles RH,
Webster AR,
Ueffing M,
Blacque O,
Gleeson JG,
Wolfrum U,
Beales PL,
Gibson T,
Doherty D,
Mitchison HM,
Roepman R,
Johnson CA
Nat Cell Biol
2015 Aug;17(8):1074-1087.
Epub 2015 Jul 13
doi: 10.1038/ncb3201.
PMID: 26167768Free PMC Article
Boon M,
Vermeulen FL,
Gysemans W,
Proesmans M,
Jorissen M,
De Boeck K
Thorax
2015 Apr;70(4):339-45.
Epub 2015 Feb 11
doi: 10.1136/thoraxjnl-2014-206578.
PMID: 25673230