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Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.
Macken, William L; Falabella, Micol; McKittrick, Caroline; Pizzamiglio, Chiara; Ellmers, Rebecca; Eggleton, Kelly; Woodward, Cathy E; Patel, Yogen; Labrum, Robyn; Phadke, Rahul; Reilly, Mary M; DeVile, Catherine; Sarkozy, Anna; Footitt, Emma; Davison, James; Rahman, Shamima; Houlden, Henry; Bugiardini, Enrico; Quinlivan, Rosaline; Hanna, Michael G; Vandrovcova, Jana; Pitceathly, Robert D S.
Affiliation
  • Macken WL; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Falabella M; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.
  • McKittrick C; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Pizzamiglio C; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Ellmers R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Eggleton K; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.
  • Woodward CE; Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London, UK.
  • Patel Y; Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London, UK.
  • Labrum R; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.
  • Phadke R; Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London, UK.
  • Reilly MM; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.
  • DeVile C; Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London, UK.
  • Footitt E; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Davison J; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Rahman S; Department of Neurosciences, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Houlden H; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Bugiardini E; Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Quinlivan R; Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Hanna MG; National Institute for Health and Care Research Great Ormond Street Hospital Biomedical Research Centre, London, UK.
  • Vandrovcova J; Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Pitceathly RDS; Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK.
Nat Commun ; 13(1): 6324, 2022 11 07.
Article in En | MEDLINE | ID: mdl-36344503
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genome / Rare Diseases Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Nat Commun Journal subject: BIOLOGIA / CIENCIA Year: 2022 Document type: Article Affiliation country:
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genome / Rare Diseases Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Nat Commun Journal subject: BIOLOGIA / CIENCIA Year: 2022 Document type: Article Affiliation country: