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Page 1
Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.
Raidt J, Riepenhausen S, Pennekamp P, Olbrich H, Amirav I, Athanazio RA, Aviram M, Balinotti JE, Bar-On O, Bode SFN, Boon M, Borrelli M, Carr SB, Crowley S, Dehlink E, Diepenhorst S, Durdik P, Dworniczak B, Emiralioğlu N, Erdem E, Fonnesu R, Gracci S, Große-Onnebrink J, Gwozdziewicz K, Haarman EG, Hansen CR, Hogg C, Holgersen MG, Kerem E, Körner RW, Kötz K, Kouis P, Loebinger MR, Lorent N, Lucas JS, Maj D, Mall MA, Marthin JK, Martinu V, Mazurek H, Mitchison HM, Nöthe-Menchen T, Özçelik U, Pifferi M, Pogorzelski A, Ringshausen FC, Roehmel JF, Rovira-Amigo S, Rumman N, Schlegtendal A, Shoemark A, Sperstad Kennelly S, Staar BO, Sutharsan S, Thomas S, Ullmann N, Varghese J, von Hardenberg S, Walker WT, Wetzke M, Witt M, Yiallouros P, Zschocke A, Ziętkiewicz E, Nielsen KG, Omran H. Raidt J, et al. Among authors: rumman n. Eur Respir J. 2024 Aug 8;64(2):2301769. doi: 10.1183/13993003.01769-2023. Print 2024 Aug. Eur Respir J. 2024. PMID: 38871375 Free PMC article.
Nasal nitric oxide measurement in children for the diagnosis of primary ciliary dyskinesia: European Respiratory Society technical standard.
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. Beydon N, et al. Among authors: rumman n. Eur Respir J. 2023 Apr 20;61(4):2202031. doi: 10.1183/13993003.02031-2022. Print 2023 Apr. Eur Respir J. 2023. PMID: 36822632 Free article.
An international survey on nasal nitric oxide measurement practices for the diagnosis of primary ciliary dyskinesia.
Beydon N, Ferkol T, Harris AL, Colas M, Davis SD, Haarman E, Hogg C, Kilbride E, Kouis P, Kuehni CE, Latzin P, Marangu D, Marthin J, Nielsen KG, Robinson P, Rumman N, Rutter M, Walker W, Lucas JS. Beydon N, et al. Among authors: rumman n. ERJ Open Res. 2022 Apr 4;8(2):00708-2021. doi: 10.1183/23120541.00708-2021. eCollection 2022 Apr. ERJ Open Res. 2022. PMID: 35386825 Free PMC article.
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort.
Fassad MR, Patel MP, Shoemark A, Cullup T, Hayward J, Dixon M, Rogers AV, Ollosson S, Jackson C, Goggin P, Hirst RA, Rutman A, Thompson J, Jenkins L, Aurora P, Moya E, Chetcuti P, O'Callaghan C, Morris-Rosendahl DJ, Watson CM, Wilson R, Carr S, Walker W, Pitno A, Lopes S, Morsy H, Shoman W, Pereira L, Constant C, Loebinger MR, Chung EMK, Kenia P, Rumman N, Fasseeh N, Lucas JS, Hogg C, Mitchison HM. Fassad MR, et al. Among authors: rumman n. J Med Genet. 2020 May;57(5):322-330. doi: 10.1136/jmedgenet-2019-106501. Epub 2019 Dec 25. J Med Genet. 2020. PMID: 31879361
Proceedings of the 4th BEAT-PCD Conference and 5th PCD Training School.
Gardner LE, Horton KL, Shoemark A, Lucas JS, Nielsen KG, Kobbernagel H, Rubbo B, Hirst RA, Kouis P, Ullmann N, Reula A, Rumman N, Mitchison HM, Pinto A, Richardson C, Schmidt A, Thompson J, Gaupmann R, Dabrowski M, Mill P, Carr SB, Norris DP, Kuehni CE, Goutaki M, Hogg C. Gardner LE, et al. Among authors: rumman n. BMC Proc. 2020 Jun 19;14(Suppl 8):7. doi: 10.1186/s12919-020-00191-3. eCollection 2020. BMC Proc. 2020. PMID: 32577127 Free PMC article.
Proceedings of the 3rd BEAT-PCD Conference and 4th PCD Training School.
Farley H, Rubbo B, Bukowy-Bieryllo Z, Fassad M, Goutaki M, Harman K, Hogg C, Kuehni CE, Lopes S, Nielsen KG, Norris DP, Reula A, Rumman N, Shoemark A, Wilkins H, Wisse A, Lucas JS, Marthin JK. Farley H, et al. Among authors: rumman n. BMC Proc. 2018 Dec 18;12(Suppl 16):64. doi: 10.1186/s12919-018-0161-6. eCollection 2018. BMC Proc. 2018. PMID: 30807620 Free PMC article.
Standardised clinical data from patients with primary ciliary dyskinesia: FOLLOW-PCD.
Goutaki M, Papon JF, Boon M, Casaulta C, Eber E, Escudier E, Halbeisen FS, Harris A, Hogg C, Honore I, Jung A, Karadag B, Koerner-Rettberg C, Legendre M, Maitre B, Nielsen KG, Rubbo B, Rumman N, Schofield L, Shoemark A, Thouvenin G, Willkins H, Lucas JS, Kuehni CE. Goutaki M, et al. Among authors: rumman n. ERJ Open Res. 2020 Feb 10;6(1):00237-2019. doi: 10.1183/23120541.00237-2019. eCollection 2020 Jan. ERJ Open Res. 2020. PMID: 32055632 Free PMC article.
Proceedings of the 2nd BEAT-PCD conference and 3rd PCD training school: part 1.
Halbeisen F, Hogg C, Alanin MC, Bukowy-Bieryllo Z, Dasi F, Duncan J, Friend A, Goutaki M, Jackson C, Keenan V, Harris A, Hirst RA, Latzin P, Marsh G, Nielsen K, Norris D, Pellicer D, Reula A, Rubbo B, Rumman N, Shoemark A, Walker WT, Kuehni CE, Lucas JS. Halbeisen F, et al. Among authors: rumman n. BMC Proc. 2018 Mar 5;12(Suppl 2):1. doi: 10.1186/s12919-018-0098-9. eCollection 2018. BMC Proc. 2018. PMID: 29630684 Free PMC article.
Primary ciliary dyskinesia: mechanisms and management.
Damseh N, Quercia N, Rumman N, Dell SD, Kim RH. Damseh N, et al. Among authors: rumman n. Appl Clin Genet. 2017 Sep 19;10:67-74. doi: 10.2147/TACG.S127129. eCollection 2017. Appl Clin Genet. 2017. PMID: 29033599 Free PMC article. Review.
28 results