Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma

• Naushin H. Waseem ,

  Contributed equally to this work with: Naushin H. Waseem, Sancy Low

  Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Project administration, Validation, Writing – original draft, Writing – review & editing

  Affiliation NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, United Kingdom

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• Sancy Low ,

  Contributed equally to this work with: Naushin H. Waseem, Sancy Low

  Roles Conceptualization, Funding acquisition, Investigation, Methodology, Resources, Writing – original draft, Writing – review & editing

  Affiliations Moorfields Eye Hospital NHS Foundation Trust, City Road, London, United Kingdom, UCL Institute of Ophthalmology, Bath Street, London, United Kingdom, Department of Ophthalmology, St. Thomas’ Hospital, Westminster Bridge Road, London, United Kingdom

  http://orcid.org/0000-0001-8925-5971

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• Amna Z. Shah,

  Roles Data curation, Investigation, Visualization, Writing – review & editing

  Affiliation UCL Institute of Ophthalmology, Bath Street, London, United Kingdom

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• Deepa Avisetti,

  Roles Investigation, Methodology, Writing – review & editing

  Affiliation Centre for Oral Immunobiology and Regenerative Medicine, Institute of Dentistry, Queen Mary University of London, London, United Kingdom

  http://orcid.org/0000-0003-4744-1068

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• Pia Ostergaard,

  Roles Data curation, Investigation, Writing – review & editing

  Affiliation Medical Genetics Unit, St. George’s University of London, Cranmer Terrace, London, United Kingdom

  http://orcid.org/0000-0002-2190-1356

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• Michael Simpson,

  Roles Data curation, Formal analysis, Writing – review & editing

  Affiliation Genetics and Molecular Medicine, King’s College London, Great Maze Pond, London, United Kingdom

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• Katarzyna A. Niemiec,

  Roles Investigation, Methodology

  Affiliation Centre for Oral Immunobiology and Regenerative Medicine, Institute of Dentistry, Queen Mary University of London, London, United Kingdom

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• Belen Martin-Martin,

  Roles Data curation, Investigation, Validation

  Affiliation Blizard Advanced Light Microscopy, Blizard Institute, Queen Mary University of London, London, United Kingdom

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• Hebah Aldehlawi,

  Roles Investigation, Methodology

  Affiliation Centre for Oral Immunobiology and Regenerative Medicine, Institute of Dentistry, Queen Mary University of London, London, United Kingdom

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• Saima Usman,

  Roles Investigation, Methodology

  Affiliation Centre for Oral Immunobiology and Regenerative Medicine, Institute of Dentistry, Queen Mary University of London, London, United Kingdom

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• Pak Sang Lee,

  Roles Investigation, Resources

  Affiliations NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, United Kingdom, Moorfields Eye Hospital NHS Foundation Trust, City Road, London, United Kingdom, UCL Institute of Ophthalmology, Bath Street, London, United Kingdom

  http://orcid.org/0000-0002-3974-8249

  ⨯
• Anthony P. Khawaja,

  Roles Writing – review & editing

  Affiliations NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, United Kingdom, Moorfields Eye Hospital NHS Foundation Trust, City Road, London, United Kingdom, UCL Institute of Ophthalmology, Bath Street, London, United Kingdom

  http://orcid.org/0000-0001-6802-8585

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• Jonathan B. Ruddle,

  Roles Investigation

  Affiliation Department of Ophthalmology, University of Melbourne, Victoria, Australia

  ⨯
• Ameet Shah,

  Roles Investigation

  Affiliation Department of Ophthalmology, Royal Free Hospital NHS Foundation Trust, Pond Street, London, United Kingdom

  http://orcid.org/0000-0001-7793-1864

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• Ege Sackey,

  Roles Data curation, Formal analysis

  Affiliation Medical Genetics Unit, St. George’s University of London, Cranmer Terrace, London, United Kingdom

  http://orcid.org/0000-0001-5477-0965

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• Alexander Day,

  Roles Investigation

  Affiliation Moorfields Eye Hospital NHS Foundation Trust, City Road, London, United Kingdom

  http://orcid.org/0000-0002-2099-8870

  ⨯
• Yuzhen Jiang,

  Roles Investigation

  Affiliation Moorfields Eye Hospital NHS Foundation Trust, City Road, London, United Kingdom

  ⨯
• Geoff Swinfield,

  Roles Investigation

  Affiliation Society of Genealogists, Goswell Road, London, United Kingdom

  http://orcid.org/0000-0002-9322-9853

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• Ananth Viswanathan,

  Roles Investigation

  Affiliations NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, United Kingdom, Moorfields Eye Hospital NHS Foundation Trust, City Road, London, United Kingdom, UCL Institute of Ophthalmology, Bath Street, London, United Kingdom

  ⨯
• Giovanna Alfano,

  Roles Investigation, Methodology

  Affiliation UCL Institute of Ophthalmology, Bath Street, London, United Kingdom

  ⨯
• Christina Chakarova,

  Roles Investigation

  Affiliation UCL Institute of Ophthalmology, Bath Street, London, United Kingdom

  http://orcid.org/0000-0003-1167-7642

  ⨯
• Heather J. Cordell,

  Roles Investigation, Methodology

  Affiliation Institute of Genetic Medicine, Newcastle University, Newcastle Upon Tyne, United Kingdom

  http://orcid.org/0000-0002-1879-5572

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• David F. Garway-Heath,

  Roles Investigation

  Affiliations NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, United Kingdom, Moorfields Eye Hospital NHS Foundation Trust, City Road, London, United Kingdom, UCL Institute of Ophthalmology, Bath Street, London, United Kingdom

  http://orcid.org/0000-0001-8611-1155

  ⨯
• Peng T. Khaw,

  Roles Conceptualization, Investigation

  Affiliations NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, United Kingdom, Moorfields Eye Hospital NHS Foundation Trust, City Road, London, United Kingdom, UCL Institute of Ophthalmology, Bath Street, London, United Kingdom

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• Shomi S. Bhattacharya ,

  Roles Conceptualization, Formal analysis, Funding acquisition, Investigation, Methodology, Project administration, Supervision, Writing – review & editing

  ¶‡ These authors are joint senior authors on this work. SSB, AW and PJF also contributed equally to this work.

  Affiliations NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, United Kingdom, UCL Institute of Ophthalmology, Bath Street, London, United Kingdom

  http://orcid.org/0000-0002-1601-6344

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• Ahmad Waseem ,

  Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Project administration, Supervision, Validation, Writing – original draft, Writing – review & editing

  ¶‡ These authors are joint senior authors on this work. SSB, AW and PJF also contributed equally to this work.

  Affiliation Centre for Oral Immunobiology and Regenerative Medicine, Institute of Dentistry, Queen Mary University of London, London, United Kingdom

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•  [ ... ],
• Paul J. Foster

  Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Project administration, Supervision, Validation, Writing – original draft, Writing – review & editing

  * E-mail: p.foster@ucl.ac.uk

  ¶‡ These authors are joint senior authors on this work. SSB, AW and PJF also contributed equally to this work.

  Affiliations NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, United Kingdom, Moorfields Eye Hospital NHS Foundation Trust, City Road, London, United Kingdom, UCL Institute of Ophthalmology, Bath Street, London, United Kingdom

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