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Articles by Woolf Walker
RNA sequencing significantly improves HYDIN diagnosis and defines the effects of common deletions in primary ciliary dyskinesia
Abstract Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder affecting ~1:7500 individuals characterised by recurrent chronic respiratory infections, bronchiectasis, laterality defects, and infertility. While at least 60 PCD-causing genes are reported, approximately 30% of patients remain without a confirmed molecular diagnosis. PCD caused by biallelic HYDIN variants is difficult to diagnose due to a 98% homologous pseudogene (HYDIN2).
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project
Discussion While the 100kGP has provided both new diagnoses and new research insights in rare inherited disease, many patients still lack a genetic diagnosis. Clinical pipelines and tiering strategies such as those used in the 100kGP analysis are inevitably biased towards exonic variants, where there is a much larger body of evidence when annotating potential pathogenicity.
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project
diagnosis genetic diseases, inborn genetics, medical sequence analysis, DNA genomics WHAT IS ALREADY KNOWN ON THIS TOPIC Although it is known that whole genome sequencing can uncover cryptic structural variants (SVs) and deep intronic splice variants, most ‘second-hit’ studies in the current literature are limited to specific genes or disease areas.
NO way! Nasal nitric oxide measurement in infants
AbstractNasal nitric oxide (NO) measurement is feasible in infants, potentially allowing earlier diagnosis of primary ciliary dyskinesia http://ow.ly/9K0a30kpcZUWhich infants should be tested for PCD?Primary ciliary dyskinesia (PCD) generally causes symptoms from the first weeks of life, but diagnosis is usually delayed for years or can be missed altogether.
Primary ciliary dyskinesia ciliated airway cells show increased susceptibility to Haemophilus influenzae biofilm formation
Primary ciliary dyskinesia ciliated airway cells show increased susceptibility to Haemophilus influenzae biofilm formation Woolf T. Walker, Claire L. Jackson, Raymond N. Allan, Samuel A. Collins, Michael J. Kelso, Ardeshir Rineh, Nageshwar R. Yepuri, Ben Nicholas, Laurie Lau, David Johnston, Peter Lackie, Saul N. Faust, Jane S.A. Lucas, Luanne Hall-Stoodley European Respiratory Journal 2017 50: 1700612; DOI: 10.1183/13993003.00612-2017
Lung function and nutritional status in children with cystic fibrosis and primary ciliary dyskinesia
Lung function and nutritional status in children with cystic fibrosis and primary ciliary dyskinesia Woolf Walker, Amanda Harris, Bruna Rubbo, Victoria Keenan, Amanda Friend, Sarah Payne, Judi Maddison, Caroline Yonge, Catherine Crocker, Tricia McGinnity, Teresa Curbishley, Kerry Gove, Sian Phillips, Julian Legg, Hazel Evans, Jane Lucas, Gary Connett European Respiratory Journal 2016 48: PA3128; DOI: 10.1183/13993003.congress-2016.PA3128
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