Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm

Alexandros Onoufriadis; Amelia Shoemark; Mustafa M Munye; Chela T James; Miriam Schmidts; Mitali Patel; Elisabeth M Rosser; Chiara Bacchelli; Philip L Beales; Peter J Scambler; Stephen L Hart; Jeannette E Danke-Roelse; John J Sloper; Sarah Hull; Claire Hogg; Richard D Emes; Gerard Pals; Anthony T Moore; Eddie M K Chung; UK10K; Hannah M Mitchison

doi:10.1136/jmedgenet-2013-101938

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Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm

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Alexandros Onoufriadis Molecular Medicine Unit, Birth Defects Research Centre, Institute of Child Health, University College London, London, UK PubMed articles Google scholar articles
Amelia Shoemark Department of Paediatric Respiratory Medicine, Royal Brompton and Harefield NHS Trust, London, UK PubMed articles Google scholar articles
Mustafa M Munye Molecular Immunology Unit, Institute of Child Health, University College London, London, UK PubMed articles Google scholar articles
Chela T James Centre for Translational Genomics-GOSgene, Institute of Child Health, University College London, London, UK PubMed articles Google scholar articles
Miriam Schmidts Molecular Medicine Unit, Birth Defects Research Centre, Institute of Child Health, University College London, London, UK PubMed articles Google scholar articles
Mitali Patel Molecular Medicine Unit, Birth Defects Research Centre, Institute of Child Health, University College London, London, UK PubMed articles Google scholar articles
Elisabeth M Rosser Clinical Genetics Unit, Great Ormond Street Hospital, London, UK PubMed articles Google scholar articles
Chiara Bacchelli Centre for Translational Genomics-GOSgene, Institute of Child Health, University College London, London, UK PubMed articles Google scholar articles
Philip L Beales Molecular Medicine Unit, Birth Defects Research Centre, Institute of Child Health, University College London, London, UK PubMed articles Google scholar articles
Peter J Scambler Molecular Medicine Unit, Birth Defects Research Centre, Institute of Child Health, University College London, London, UK PubMed articles Google scholar articles
Stephen L Hart Molecular Immunology Unit, Institute of Child Health, University College London, London, UK PubMed articles Google scholar articles
Jeannette E Danke-Roelse Department of Pediatrics, Atrium Medical Center, Heerlen, The Netherlands PubMed articles Google scholar articles
John J Sloper UCL Institute of Ophthalmology, Moorfields Eye Hospital, London, UK PubMed articles Google scholar articles
Sarah Hull UCL Institute of Ophthalmology, Moorfields Eye Hospital, London, UK PubMed articles Google scholar articles
Claire Hogg Department of Paediatric Respiratory Medicine, Royal Brompton and Harefield NHS Trust, London, UK PubMed articles Google scholar articles
Richard D Emes School of Veterinary Medicine and Science, University of Nottingham, Nottingham, Leicestershire, UK Advanced Data Analysis Centre, University of Nottingham, Sutton Bonington Campus, Nottingham, Leicestershire, UK PubMed articles Google scholar articles
Gerard Pals Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands PubMed articles Google scholar articles
Anthony T Moore UCL Institute of Ophthalmology, Moorfields Eye Hospital, London, UK PubMed articles Google scholar articles
Eddie M K Chung General and Adolescent Paediatric Unit, Institute of Child Health, University College London, London, UK PubMed articles Google scholar articles
http://www.uk10k.org/ Google scholar articles
Hannah M Mitchison Molecular Medicine Unit, Birth Defects Research Centre, Institute of Child Health, University College London, London, UK PubMed articles Google scholar articles

Correspondence to Dr Hannah M Mitchison, Molecular Medicine Unit, University College London (UCL) Institute of Child Health, London WC1N 1EH, UK; h.mitchison{at}ucl.ac.uk

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Onoufriadis A, Shoemark A, Munye MM, et al

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm

Journal of Medical Genetics 2014;51:61-67.

Publication history

Received July 19, 2013
Revised September 18, 2013
Accepted September 19, 2013
First published November 7, 2013.

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April 27, 2016

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