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Open Access
Peer-reviewed
Research Article
Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development
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Laura E. Kuil,
Roles Formal analysis, Investigation, Visualization, Writing – original draft, Writing – review & editing
Affiliation Department of Clinical Genetics, Erasmus MC–Sophia Children’s Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands
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Katherine C. MacKenzie,
Roles Formal analysis, Visualization, Writing – original draft, Writing – review & editing
Affiliation Department of Clinical Genetics, Erasmus MC–Sophia Children’s Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands
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Clara S. Tang,
Roles Formal analysis, Funding acquisition
Affiliations Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China, Li Dak-Sum Research Centre, The University of Hong Kong–Karolinska Institutet Collaboration in Regenerative Medicine, Hong Kong, China
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Jonathan D. Windster,
Roles Investigation
Affiliations Department of Clinical Genetics, Erasmus MC–Sophia Children’s Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands, Department of Paediatric Surgery, Erasmus MC–Sophia Children’s Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands
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Thuy Linh Le,
Roles Investigation
Affiliation Laboratory of embryology and genetics of malformations, Institut Imagine Université de Paris INSERM UMR1163 Necker Enfants malades University Hospital, Paris, France
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Anwarul Karim,
Roles Formal analysis
Affiliation Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China
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Bianca M. de Graaf,
Roles Formal analysis, Investigation
Affiliation Department of Clinical Genetics, Erasmus MC–Sophia Children’s Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands
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Robert van der Helm,
Roles Investigation
Affiliation Department of Clinical Genetics, Erasmus MC–Sophia Children’s Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands
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Yolande van Bever,
Roles Investigation
Affiliation Department of Clinical Genetics, Erasmus MC–Sophia Children’s Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands
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Cornelius E. J. Sloots,
Roles Investigation
Affiliation Department of Paediatric Surgery, Erasmus MC–Sophia Children’s Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands
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Conny Meeussen,
Roles Investigation
Affiliation Department of Paediatric Surgery, Erasmus MC–Sophia Children’s Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands
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Dick Tibboel,
Roles Writing – review & editing
Affiliation Department of Paediatric Surgery, Erasmus MC–Sophia Children’s Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands
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Annelies de Klein,
Roles Writing – review & editing
Affiliation Department of Clinical Genetics, Erasmus MC–Sophia Children’s Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands
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René M. H. Wijnen,
Roles Investigation
Affiliation Department of Paediatric Surgery, Erasmus MC–Sophia Children’s Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands
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Jeanne Amiel,
Roles Writing – review & editing
Affiliation Laboratory of embryology and genetics of malformations, Institut Imagine Université de Paris INSERM UMR1163 Necker Enfants malades University Hospital, Paris, France
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Stanislas Lyonnet,
Roles Writing – review & editing
Affiliation Laboratory of embryology and genetics of malformations, Institut Imagine Université de Paris INSERM UMR1163 Necker Enfants malades University Hospital, Paris, France
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Maria-Mercè Garcia-Barcelo,
Roles Writing – review & editing
Affiliation Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China
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Paul K. H. Tam,
Roles Funding acquisition, Writing – review & editing
Affiliations Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China, Li Dak-Sum Research Centre, The University of Hong Kong–Karolinska Institutet Collaboration in Regenerative Medicine, Hong Kong, China
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Maria M. Alves,
Roles Supervision, Writing – review & editing
Affiliation Department of Clinical Genetics, Erasmus MC–Sophia Children’s Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands
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Alice S. Brooks,
Roles Conceptualization
Affiliation Department of Clinical Genetics, Erasmus MC–Sophia Children’s Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands
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Robert M. W. Hofstra,
Roles Conceptualization, Funding acquisition, Supervision, Writing – review & editing
Affiliations Department of Clinical Genetics, Erasmus MC–Sophia Children’s Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands, Stem Cells and Regenerative Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom
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Erwin Brosens
Roles Conceptualization, Data curation, Formal analysis, Supervision, Visualization, Writing – original draft, Writing – review & editing
* E-mail: e.brosens@erasmusmc.nl
Affiliation Department of Clinical Genetics, Erasmus MC–Sophia Children’s Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands
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Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development
- Laura E. Kuil,
- Katherine C. MacKenzie,
- Clara S. Tang,
- Jonathan D. Windster,
- Thuy Linh Le,
- Anwarul Karim,
- Bianca M. de Graaf,
- Robert van der Helm,
- Yolande van Bever,
- Cornelius E. J. Sloots
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- Published: August 6, 2021
- https://doi.org/10.1371/journal.pgen.1009698