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A Multistage Sequencing Strategy Pinpoints Many Novel and Candidate Disease Alleles for Orphan Disease Emery-Dreifuss Muscular Dystrophy and Supports Gene Misregulation as its Pathomechanism
Peter Meinke, Alastair R. W. Kerr, Rafal Czapiewski, Jose I. de las Heras, Elizabeth Harris, Heike Kölbel, Francesco Muntoni, Ulrike Schara, Volker Straub, Benedikt Schoser, Manfred Wehnert, Eric C. Schirmer
doi: https://doi.org/10.1101/705780
Peter Meinke
1Wellcome Centre for Cell Biology, University of Edinburgh, Edinburgh, UK
2Friedrich Baur Institute at the Department of Neurology, University Hospital, LMU Munich, Germany
Alastair R. W. Kerr
1Wellcome Centre for Cell Biology, University of Edinburgh, Edinburgh, UK
Rafal Czapiewski
1Wellcome Centre for Cell Biology, University of Edinburgh, Edinburgh, UK
Jose I. de las Heras
1Wellcome Centre for Cell Biology, University of Edinburgh, Edinburgh, UK
Elizabeth Harris
3John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
Heike Kölbel
4Department of Pediatric Neurology, Developmental Neurology and Social Pediatrics, University of Essen, Germany
Francesco Muntoni
5Dubowitz Neuromuscular Centre, University College London Great Ormond Street Institute of Child Health, London, UK; and 1 NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London, & Great Ormond Street Hospital Trust, London, UK
Ulrike Schara
4Department of Pediatric Neurology, Developmental Neurology and Social Pediatrics, University of Essen, Germany
Volker Straub
3John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
Benedikt Schoser
2Friedrich Baur Institute at the Department of Neurology, University Hospital, LMU Munich, Germany
Manfred Wehnert
6Institute of Human Genetics, University of Greifswald (retired), Greifswald, Germany
Eric C. Schirmer
1Wellcome Centre for Cell Biology, University of Edinburgh, Edinburgh, UK
Article usage
Posted July 17, 2019.
A Multistage Sequencing Strategy Pinpoints Many Novel and Candidate Disease Alleles for Orphan Disease Emery-Dreifuss Muscular Dystrophy and Supports Gene Misregulation as its Pathomechanism
Peter Meinke, Alastair R. W. Kerr, Rafal Czapiewski, Jose I. de las Heras, Elizabeth Harris, Heike Kölbel, Francesco Muntoni, Ulrike Schara, Volker Straub, Benedikt Schoser, Manfred Wehnert, Eric C. Schirmer
bioRxiv 705780; doi: https://doi.org/10.1101/705780
A Multistage Sequencing Strategy Pinpoints Many Novel and Candidate Disease Alleles for Orphan Disease Emery-Dreifuss Muscular Dystrophy and Supports Gene Misregulation as its Pathomechanism
Peter Meinke, Alastair R. W. Kerr, Rafal Czapiewski, Jose I. de las Heras, Elizabeth Harris, Heike Kölbel, Francesco Muntoni, Ulrike Schara, Volker Straub, Benedikt Schoser, Manfred Wehnert, Eric C. Schirmer
bioRxiv 705780; doi: https://doi.org/10.1101/705780
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