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Items: 1 to 50 of 68

1.

Clinical features and management of children with primary ciliary dyskinesia in England.

Rubbo B, Best S, Hirst RA, Shoemark A, Goggin P, Carr SB, Chetcuti P, Hogg C, Kenia P, Lucas JS, Moya E, Narayanan M, O'Callaghan C, Williamson M, Walker WT; English National Children’s PCD Management Service.

Arch Dis Child. 2020 Mar 10. pii: archdischild-2019-317687. doi: 10.1136/archdischild-2019-317687. [Epub ahead of print]

PMID:
32156696
2.

International consensus guideline for reporting transmission electron microscopy results in the diagnosis of Primary Ciliary Dyskinesia (BEAT PCD TEM Criteria).

Shoemark A, Boon M, Brochhausen C, Bukowy-Bieryllo Z, Margherita De Santi M, Goggin P, Griffin P, Hegele RG, Hirst RA, Leigh MW, Lupton A, MacKenney K, Omran H, Pache JC, Pinto A, Reinholt FP, Schroeder J, Yiallouros P, Escudier E; These authors represent a larger guideline development group acknowledged below*.

Eur Respir J. 2020 Feb 14. pii: 1900725. doi: 10.1183/13993003.00725-2019. [Epub ahead of print]

PMID:
32060067
3.

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.

ERJ Open Res. 2020 Feb 10;6(1). pii: 00237-2019. doi: 10.1183/23120541.00237-2019. eCollection 2020 Jan.

4.

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.

J Med Genet. 2019 Dec 25. pii: jmedgenet-2019-106501. doi: 10.1136/jmedgenet-2019-106501. [Epub ahead of print]

PMID:
31879361
5.

Sperm defects in primary ciliary dyskinesia and related causes of male infertility.

Sironen A, Shoemark A, Patel M, Loebinger MR, Mitchison HM.

Cell Mol Life Sci. 2019 Nov 28. doi: 10.1007/s00018-019-03389-7. [Epub ahead of print] Review.

PMID:
31781811
6.

Response.

Lucas JS, Rubbo B, Jackson CL, Hirst RA, Hogg C, O'Callaghan C, Reading I, Shoemark A.

Chest. 2019 Nov;156(5):1033-1034. doi: 10.1016/j.chest.2019.07.001. No abstract available.

PMID:
31699225
7.

De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry.

Wallmeier J, Frank D, Shoemark A, Nöthe-Menchen T, Cindric S, Olbrich H, Loges NT, Aprea I, Dougherty GW, Pennekamp P, Kaiser T, Mitchison HM, Hogg C, Carr SB, Zariwala MA, Ferkol T, Leigh MW, Davis SD, Atkinson J, Dutcher SK, Knowles MR, Thiele H, Altmüller J, Krenz H, Wöste M, Brentrup A, Ahrens F, Vogelberg C, Morris-Rosendahl DJ, Omran H.

Am J Hum Genet. 2019 Nov 7;105(5):1030-1039. doi: 10.1016/j.ajhg.2019.09.022. Epub 2019 Oct 17.

PMID:
31630787
8.

Primary ciliary dyskinesia in the genomics age.

Lucas JS, Davis SD, Omran H, Shoemark A.

Lancet Respir Med. 2020 Feb;8(2):202-216. doi: 10.1016/S2213-2600(19)30374-1. Epub 2019 Oct 14. Review.

PMID:
31624012
9.

ERS and ATS diagnostic guidelines for primary ciliary dyskinesia: similarities and differences in approach to diagnosis.

Shoemark A, Dell S, Shapiro A, Lucas JS.

Eur Respir J. 2019 Sep 5;54(3). pii: 1901066. doi: 10.1183/13993003.01066-2019. Print 2019 Sep. No abstract available.

PMID:
31488586
10.

The Controversies and Difficulties of Diagnosing Primary Ciliary Dyskinesia.

Shoemark A, Rubbo B, Haarman E, Hirst RA, Hogg C, Jackson CL, Nielsen KG, Papon JF, Robinson P, Walker WT, Lucas JS.

Am J Respir Crit Care Med. 2020 Jan 1;201(1):120-122. doi: 10.1164/rccm.201907-1334LE. No abstract available.

11.

The efficacy and safety of inhaled antibiotics for the treatment of bronchiectasis in adults: a systematic review and meta-analysis.

Laska IF, Crichton ML, Shoemark A, Chalmers JD.

Lancet Respir Med. 2019 Oct;7(10):855-869. doi: 10.1016/S2213-2600(19)30185-7. Epub 2019 Aug 9.

PMID:
31405826
12.

Antimicrobial peptides, disease severity and exacerbations in bronchiectasis.

Sibila O, Perea L, Cantó E, Shoemark A, Cassidy D, Smith AH, Suarez-Cuartin G, Rodrigo-Troyano A, Keir HR, Oriano M, Ong S, Vidal S, Blasi F, Aliberti S, Chalmers JD.

Thorax. 2019 Sep;74(9):835-842. doi: 10.1136/thoraxjnl-2018-212895. Epub 2019 Jul 5.

PMID:
31278172
13.

Time trends in diagnostic testing for primary ciliary dyskinesia in Europe.

Halbeisen FS, Shoemark A, Barbato A, Boon M, Carr S, Crowley S, Hirst R, Karadag B, Koerner-Rettberg C, Loebinger MR, Lucas JS, Maitre B, Mazurek H, Özçelik U, Martinů V, Schwerk N, Thouvenin G, Tschanz SA, Yiallouros P, Goutaki M, Kuehni CE.

Eur Respir J. 2019 Oct 24;54(4). pii: 1900528. doi: 10.1183/13993003.00528-2019. Print 2019 Oct. No abstract available.

PMID:
31273043
14.

Pregnancy Zone Protein Is Associated with Airway Infection, Neutrophil Extracellular Trap Formation, and Disease Severity in Bronchiectasis.

Finch S, Shoemark A, Dicker AJ, Keir HR, Smith A, Ong S, Tan B, Choi JY, Fardon TC, Cassidy D, Huang JTJ, Chalmers JD.

Am J Respir Crit Care Med. 2019 Oct 15;200(8):992-1001. doi: 10.1164/rccm.201812-2351OC.

15.

A point-of-care neutrophil elastase activity assay identifies bronchiectasis severity, airway infection and risk of exacerbation.

Shoemark A, Cant E, Carreto L, Smith A, Oriano M, Keir HR, Perea L, Canto E, Terranova L, Vidal S, Moffitt K, Aliberti S, Sibila O, Chalmers JD.

Eur Respir J. 2019 Jun 13;53(6). pii: 1900303. doi: 10.1183/13993003.00303-2019. Print 2019 Jun.

16.

Airway Bacterial Load and Inhaled Antibiotic Response in Bronchiectasis.

Sibila O, Laserna E, Shoemark A, Keir HR, Finch S, Rodrigo-Troyano A, Perea L, Lonergan M, Goeminne PC, Chalmers JD.

Am J Respir Crit Care Med. 2019 Jul 1;200(1):33-41. doi: 10.1164/rccm.201809-1651OC.

PMID:
31109172
17.

Accuracy of High-Speed Video Analysis to Diagnose Primary Ciliary Dyskinesia.

Rubbo B, Shoemark A, Jackson CL, Hirst R, Thompson J, Hayes J, Frost E, Copeland F, Hogg C, O'Callaghan C, Reading I, Lucas JS; National PCD Service, UK.

Chest. 2019 May;155(5):1008-1017. doi: 10.1016/j.chest.2019.01.036. Epub 2019 Feb 28.

18.

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.

BMC Proc. 2018 Dec 18;12(Suppl 16):64. doi: 10.1186/s12919-018-0161-6. eCollection 2018.

19.

The European Multicentre Bronchiectasis Audit and Research Collaboration (EMBARC) ERS Clinical Research Collaboration.

Aliberti S, Polverino E, Chalmers JD, Altenburg J, Shteinberg M, Goeminne PC, Welte T, Shoemark A, Almagro M, Blasi F; EMBARC Clinical Research Collaboration.

Eur Respir J. 2018 Nov 29;52(5). pii: 1802074. doi: 10.1183/13993003.02074-2018. Print 2018 Nov. No abstract available.

PMID:
30498055
20.

Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus.

Fassad MR, Shoemark A, Legendre M, Hirst RA, Koll F, le Borgne P, Louis B, Daudvohra F, Patel MP, Thomas L, Dixon M, Burgoyne T, Hayes J, Nicholson AG, Cullup T, Jenkins L, Carr SB, Aurora P, Lemullois M, Aubusson-Fleury A, Papon JF, O'Callaghan C, Amselem S, Hogg C, Escudier E, Tassin AM, Mitchison HM.

Am J Hum Genet. 2018 Dec 6;103(6):984-994. doi: 10.1016/j.ajhg.2018.10.016. Epub 2018 Nov 21.

21.

Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia.

Best S, Shoemark A, Rubbo B, Patel MP, Fassad MR, Dixon M, Rogers AV, Hirst RA, Rutman A, Ollosson S, Jackson CL, Goggin P, Thomas S, Pengelly R, Cullup T, Pissaridou E, Hayward J, Onoufriadis A, O'Callaghan C, Loebinger MR, Wilson R, Chung EM, Kenia P, Doughty VL, Carvalho JS, Lucas JS, Mitchison HM, Hogg C.

Thorax. 2019 Feb;74(2):203-205. doi: 10.1136/thoraxjnl-2018-212104. Epub 2018 Aug 30.

PMID:
30166424
22.

Why, when and how to investigate primary ciliary dyskinesia in adult patients with bronchiectasis.

Contarini M, Shoemark A, Rademacher J, Finch S, Gramegna A, Gaffuri M, Roncoroni L, Seia M, Ringshausen FC, Welte T, Blasi F, Aliberti S, Chalmers JD.

Multidiscip Respir Med. 2018 Aug 9;13(Suppl 1):26. doi: 10.1186/s40248-018-0143-6. eCollection 2018. Review.

23.

An extracellular matrix fragment drives epithelial remodeling and airway hyperresponsiveness.

Patel DF, Peiró T, Shoemark A, Akthar S, Walker SA, Grabiec AM, Jackson PL, Hussell T, Gaggar A, Xu X, Trevor JL, Li J, Steele C, Tavernier G, Blalock JE, Niven RM, Gregory LG, Simpson A, Lloyd CM, Snelgrove RJ.

Sci Transl Med. 2018 Aug 22;10(455). pii: eaaq0693. doi: 10.1126/scitranslmed.aaq0693.

24.

ZMYND10 functions in a chaperone relay during axonemal dynein assembly.

Mali GR, Yeyati PL, Mizuno S, Dodd DO, Tennant PA, Keighren MA, Zur Lage P, Shoemark A, Garcia-Munoz A, Shimada A, Takeda H, Edlich F, Takahashi S, von Kreigsheim A, Jarman AP, Mill P.

Elife. 2018 Jun 19;7. pii: e34389. doi: 10.7554/eLife.34389.

25.

Primary Cilia Mediate Diverse Kinase Inhibitor Resistance Mechanisms in Cancer.

Jenks AD, Vyse S, Wong JP, Kostaras E, Keller D, Burgoyne T, Shoemark A, Tsalikis A, de la Roche M, Michaelis M, Cinatl J Jr, Huang PH, Tanos BE.

Cell Rep. 2018 Jun 5;23(10):3042-3055. doi: 10.1016/j.celrep.2018.05.016.

26.

C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia.

Fassad MR, Shoemark A, le Borgne P, Koll F, Patel M, Dixon M, Hayward J, Richardson C, Frost E, Jenkins L, Cullup T, Chung EMK, Lemullois M, Aubusson-Fleury A, Hogg C, Mitchell DR, Tassin AM, Mitchison HM.

Am J Hum Genet. 2018 May 3;102(5):956-972. doi: 10.1016/j.ajhg.2018.03.024.

27.

Models of Ciliary Dysfunction: Time to Expand.

Shoemark A.

Am J Respir Cell Mol Biol. 2018 Sep;59(3):285-286. doi: 10.1165/rcmb.2018-0072ED. No abstract available.

PMID:
29708393
28.

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.

BMC Proc. 2018 Mar 5;12(Suppl 2):1. doi: 10.1186/s12919-018-0098-9. eCollection 2018.

29.

Impact of T2R38 Receptor Polymorphisms on Pseudomonas aeruginosa Infection in Cystic Fibrosis.

Turnbull AR, Murphy R, Behrends V, Lund-Palau H, Simbo A, Mariveles M, Alton EWFW, Bush A, Shoemark A, Davies JC.

Am J Respir Crit Care Med. 2018 Jun 15;197(12):1635-1638. doi: 10.1164/rccm.201711-2365LE. No abstract available.

30.

Primary ciliary dyskinesia with normal ultrastructure: three-dimensional tomography detects absence of DNAH11.

Shoemark A, Burgoyne T, Kwan R, Dixon M, Patel MP, Rogers AV, Onoufriadis A, Scully J, Daudvohra F, Cullup T, Loebinger MR, Wilson R, Chung EMK, Bush A, Mitchison HM, Hogg C.

Eur Respir J. 2018 Feb 21;51(2). pii: 1701809. doi: 10.1183/13993003.01809-2017. Print 2018 Feb.

31.

Primary Ciliary Dyskinesia Due to Microtubular Defects is Associated with Worse Lung Clearance Index.

Irving S, Dixon M, Fassad MR, Frost E, Hayward J, Kilpin K, Ollosson S, Onoufriadis A, Patel MP, Scully J, Carr SB, Mitchison HM, Loebinger MR, Hogg C, Shoemark A, Bush A.

Lung. 2018 Apr;196(2):231-238. doi: 10.1007/s00408-018-0086-x. Epub 2018 Jan 24.

32.

DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport.

Hartill VL, van de Hoek G, Patel MP, Little R, Watson CM, Berry IR, Shoemark A, Abdelmottaleb D, Parkes E, Bacchelli C, Szymanska K, Knoers NV, Scambler PJ, Ueffing M, Boldt K, Yates R, Winyard PJ, Adler B, Moya E, Hattingh L, Shenoy A, Hogg C, Sheridan E, Roepman R, Norris D, Mitchison HM, Giles RH, Johnson CA.

Hum Mol Genet. 2018 Feb 1;27(3):529-545. doi: 10.1093/hmg/ddx422.

33.

Exploring the Art of Ciliary Beating: The Benefits of High-Speed Video Analysis.

Lucas JS, Evans HJ, Haarman EG, Hirst RA, Hogg C, Jackson CL, Nielsen KG, Omran H, Papon JF, Robinson P, Shoemark A, Walker WT.

Chest. 2017 Dec;152(6):1348-1349. doi: 10.1016/j.chest.2017.06.053. No abstract available.

PMID:
29223261
34.

Motile cilia defects in diseases other than primary ciliary dyskinesia: The contemporary diagnostic and research role for transmission electron microscopy.

Mitchison HM, Shoemark A.

Ultrastruct Pathol. 2017 Nov-Dec;41(6):415-427. doi: 10.1080/01913123.2017.1370050. Epub 2017 Sep 19.

PMID:
28925789
35.

Secondary defects detected by transmission electron microscopy in primary ciliary dyskinesia diagnostics.

Dixon M, Shoemark A.

Ultrastruct Pathol. 2017 Nov-Dec;41(6):390-398. doi: 10.1080/01913123.2017.1365990. Epub 2017 Sep 18. Review.

PMID:
28922056
36.

Applications of emerging transmission electron microscopy technology in PCD research and diagnosis.

Shoemark A.

Ultrastruct Pathol. 2017 Nov-Dec;41(6):408-414. doi: 10.1080/01913123.2017.1365789. Epub 2017 Sep 18. Review.

PMID:
28922052
37.

Haemophilus influenzae biofilms in primary ciliary dyskinesia: a moving story.

Shoemark A.

Eur Respir J. 2017 Sep 10;50(3). pii: 1701369. doi: 10.1183/13993003.01369-2017. Print 2017 Sep. No abstract available.

38.

High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.

Shoemark A, Moya E, Hirst RA, Patel MP, Robson EA, Hayward J, Scully J, Fassad MR, Lamb W, Schmidts M, Dixon M, Patel-King RS, Rogers AV, Rutman A, Jackson CL, Goggin P, Rubbo B, Ollosson S, Carr S, Walker W, Adler B, Loebinger MR, Wilson R, Bush A, Williams H, Boustred C, Jenkins L, Sheridan E, Chung EMK, Watson CM, Cullup T, Lucas JS, Kenia P, O'Callaghan C, King SM, Hogg C, Mitchison HM.

Thorax. 2018 Feb;73(2):157-166. doi: 10.1136/thoraxjnl-2017-209999. Epub 2017 Aug 8.

39.

Lung Clearance Index (LCI) is Stable in Most Primary Ciliary Dyskinesia (PCD) Patients Managed in a Specialist Centre: a Pilot Study.

Irving S, Carr S, Hogg C, Loebinger M, Shoemark A, Bush A.

Lung. 2017 Aug;195(4):441-443. doi: 10.1007/s00408-017-0022-5. Epub 2017 Jun 20.

40.

Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia.

Shoemark A, Frost E, Dixon M, Ollosson S, Kilpin K, Patel M, Scully J, Rogers AV, Mitchison HM, Bush A, Hogg C.

Am J Respir Crit Care Med. 2017 Jul 1;196(1):94-101. doi: 10.1164/rccm.201607-1351OC.

41.

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.

Olcese C, Patel MP, Shoemark A, Kiviluoto S, Legendre M, Williams HJ, Vaughan CK, Hayward J, Goldenberg A, Emes RD, Munye MM, Dyer L, Cahill T, Bevillard J, Gehrig C, Guipponi M, Chantot S, Duquesnoy P, Thomas L, Jeanson L, Copin B, Tamalet A, Thauvin-Robinet C, Papon JF, Garin A, Pin I, Vera G, Aurora P, Fassad MR, Jenkins L, Boustred C, Cullup T, Dixon M, Onoufriadis A, Bush A, Chung EM, Antonarakis SE, Loebinger MR, Wilson R, Armengot M, Escudier E, Hogg C; UK10K Rare Group, Amselem S, Sun Z, Bartoloni L, Blouin JL, Mitchison HM.

Nat Commun. 2017 Feb 8;8:14279. doi: 10.1038/ncomms14279.

42.

BMI-1 extends proliferative potential of human bronchial epithelial cells while retaining their mucociliary differentiation capacity.

Munye MM, Shoemark A, Hirst RA, Delhove JM, Sharp TV, McKay TR, O'Callaghan C, Baines DL, Howe SJ, Hart SL.

Am J Physiol Lung Cell Mol Physiol. 2017 Feb 1;312(2):L258-L267. doi: 10.1152/ajplung.00471.2016. Epub 2016 Dec 15.

43.

European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia.

Lucas JS, Barbato A, Collins SA, Goutaki M, Behan L, Caudri D, Dell S, Eber E, Escudier E, Hirst RA, Hogg C, Jorissen M, Latzin P, Legendre M, Leigh MW, Midulla F, Nielsen KG, Omran H, Papon JF, Pohunek P, Redfern B, Rigau D, Rindlisbacher B, Santamaria F, Shoemark A, Snijders D, Tonia T, Titieni A, Walker WT, Werner C, Bush A, Kuehni CE.

Eur Respir J. 2017 Jan 4;49(1). pii: 1601090. doi: 10.1183/13993003.01090-2016. Print 2017 Jan.

44.

A longitudinal study characterising a large adult primary ciliary dyskinesia population.

Shah A, Shoemark A, MacNeill SJ, Bhaludin B, Rogers A, Bilton D, Hansell DM, Wilson R, Loebinger MR.

Eur Respir J. 2016 Aug;48(2):441-50. doi: 10.1183/13993003.00209-2016. Epub 2016 Jun 10.

45.

Increased nuclear suppressor of cytokine signaling 1 in asthmatic bronchial epithelium suppresses rhinovirus induction of innate interferons.

Gielen V, Sykes A, Zhu J, Chan B, Macintyre J, Regamey N, Kieninger E, Gupta A, Shoemark A, Bossley C, Davies J, Saglani S, Walker P, Nicholson SE, Dalpke AH, Kon OM, Bush A, Johnston SL, Edwards MR.

J Allergy Clin Immunol. 2015 Jul;136(1):177-188.e11. doi: 10.1016/j.jaci.2014.11.039. Epub 2015 Jan 25.

46.

Bardet Biedl syndrome: motile ciliary phenotype.

Shoemark A, Dixon M, Beales PL, Hogg CL.

Chest. 2015 Mar;147(3):764-770. doi: 10.1378/chest.13-2913.

PMID:
25317630
47.

HEATR2 plays a conserved role in assembly of the ciliary motile apparatus.

Diggle CP, Moore DJ, Mali G, zur Lage P, Ait-Lounis A, Schmidts M, Shoemark A, Garcia Munoz A, Halachev MR, Gautier P, Yeyati PL, Bonthron DT, Carr IM, Hayward B, Markham AF, Hope JE, von Kriegsheim A, Mitchison HM, Jackson IJ, Durand B, Reith W, Sheridan E, Jarman AP, Mill P.

PLoS Genet. 2014 Sep 18;10(9):e1004577. doi: 10.1371/journal.pgen.1004577. eCollection 2014 Sep.

48.

Cyanide levels found in infected cystic fibrosis sputum inhibit airway ciliary function.

Nair C, Shoemark A, Chan M, Ollosson S, Dixon M, Hogg C, Alton EW, Davies JC, Williams HD.

Eur Respir J. 2014 Nov;44(5):1253-61. doi: 10.1183/09031936.00097014. Epub 2014 Sep 3.

49.

Characterizing the ultrastructure of primary ciliary dyskinesia transposition defect using electron tomography.

Burgoyne T, Lewis A, Dewar A, Luther P, Hogg C, Shoemark A, Dixon M.

Cytoskeleton (Hoboken). 2014 May;71(5):294-301. doi: 10.1002/cm.21171. Epub 2014 Mar 25.

PMID:
24616277
50.

Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.

Onoufriadis A, Shoemark A, Schmidts M, Patel M, Jimenez G, Liu H, Thomas B, Dixon M, Hirst RA, Rutman A, Burgoyne T, Williams C, Scully J, Bolard F, Lafitte JJ, Beales PL, Hogg C, Yang P, Chung EM, Emes RD, O'Callaghan C; UK10K, Bouvagnet P, Mitchison HM.

Hum Mol Genet. 2014 Jul 1;23(13):3362-74. doi: 10.1093/hmg/ddu046. Epub 2014 Feb 11.

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