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Open Access
Peer-reviewed
Research Article
Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389
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Daphne Yau ,
Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Project administration, Validation, Writing – original draft, Writing – review & editing
* E-mail: dyau@qmed.ca
Affiliation Department of Paediatric Endocrinology, Royal Manchester Children’s Hospital, Manchester, United Kingdom
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Thomas W. Laver,
Roles Conceptualization, Formal analysis, Writing – review & editing
Affiliation Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, United Kingdom
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Antonia Dastamani,
Roles Investigation, Resources, Writing – review & editing
Affiliation Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, United Kingdom
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Senthil Senniappan,
Roles Investigation, Resources
Affiliation Department of Paediatric Endocrinology, Alder Hey Children’s Hospital, Liverpool, United Kingdom
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Jayne A. L. Houghton,
Roles Data curation, Writing – review & editing
Affiliation Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom
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Guftar Shaikh,
Roles Investigation, Resources, Writing – review & editing
Affiliation Department of Paediatric Endocrinology, Royal Hospital for Children, Glasgow, United Kingdom
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Tim Cheetham,
Roles Investigation, Resources, Writing – review & editing
Affiliation Department of Paediatric Endocrinology, Royal Victoria Infirmary, Newcastle upon Tyne, United Kingdom
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Talat Mushtaq,
Roles Investigation, Resources, Writing – review & editing
Affiliation Department of Paediatric Endocrinology, Leeds Children’s Hospital, Leeds, United Kingdom
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Ritika R. Kapoor,
Roles Investigation, Resources, Writing – review & editing
Affiliation Department of Paediatric Endocrinology, King’s College London, London, United Kingdom
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Tabitha Randell,
Roles Investigation, Resources, Writing – review & editing
Affiliation Department of Paediatric Endocrinology, Nottingham Children’s Hospital, Nottingham, United Kingdom
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Sian Ellard,
Roles Funding acquisition, Supervision
Affiliations Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, United Kingdom, Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom
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Pratik Shah,
Roles Resources, Supervision
Affiliation Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, United Kingdom
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Indraneel Banerjee,
Roles Resources, Supervision, Writing – review & editing
Affiliation Department of Paediatric Endocrinology, Royal Manchester Children’s Hospital, Manchester, United Kingdom
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Sarah E. Flanagan
Roles Conceptualization, Data curation, Funding acquisition, Methodology, Project administration, Supervision, Validation, Writing – original draft, Writing – review & editing
Affiliation Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, United Kingdom
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Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389
- Daphne Yau,
- Thomas W. Laver,
- Antonia Dastamani,
- Senthil Senniappan,
- Jayne A. L. Houghton,
- Guftar Shaikh,
- Tim Cheetham,
- Talat Mushtaq,
- Ritika R. Kapoor,
- Tabitha Randell
- Published: February 6, 2020
- https://doi.org/10.1371/journal.pone.0228417