Identification of the First ATRIP–Deficient Patient and Novel Mutations in ATR Define a Clinical Spectrum for ATR–ATRIP Seckel Syndrome

• Tomoo Ogi ,

  Contributed equally to this work with: Tomoo Ogi, Sarah Walker

  * E-mail: togi@nagasaki-u.ac.jp (TO); A.M.R.Taylor@bham.ac.uk (AMRT); m.o-driscoll@sussex.ac.uk (MO); p.a.jeggo@sussex.ac.uk (PAJ)

  Affiliations Nagasaki University Research Centre for Genomic Instability and Carcinogenesis (NRGIC), Nagasaki University, Sakamoto, Nagasaki, Japan, Department of Molecular Medicine, Atomic Bomb Disease Institute, Nagasaki University, Sakamoto, Nagasaki, Japan

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• Sarah Walker ,

  Contributed equally to this work with: Tomoo Ogi, Sarah Walker

  Affiliation Double Strand Break Repair Laboratory, Genome Damage and Stability Centre, University of Sussex, Brighton, United Kingdom

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• Tom Stiff,

  Affiliation Double Strand Break Repair Laboratory, Genome Damage and Stability Centre, University of Sussex, Brighton, United Kingdom

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• Emma Hobson,

  Affiliation Department of Clinical Genetics, Chapel Allerton Hospital, Leeds, United Kingdom

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• Siripan Limsirichaikul,

  Current address: Faculty of Pharmacy, Silpakorn University, Nakhon Pathom, Thailand

  Affiliation Department of Molecular Medicine, Atomic Bomb Disease Institute, Nagasaki University, Sakamoto, Nagasaki, Japan

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• Gillian Carpenter,

  Affiliation Human DNA Damage Response Disorders Group, Genome Damage and Stability Centre, University of Sussex, Brighton, United Kingdom

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• Katrina Prescott,

  Affiliation Department of Clinical Genetics, Chapel Allerton Hospital, Leeds, United Kingdom

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• Mohnish Suri,

  Affiliation Clinical Genetic Service, City Hospital, Nottingham, United Kingdom

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• Philip J. Byrd,

  Affiliation School of Cancer Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom

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• Michiko Matsuse,

  Affiliation Department of Molecular Medicine, Atomic Bomb Disease Institute, Nagasaki University, Sakamoto, Nagasaki, Japan

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• Norisato Mitsutake,

  Affiliations Nagasaki University Research Centre for Genomic Instability and Carcinogenesis (NRGIC), Nagasaki University, Sakamoto, Nagasaki, Japan, Department of Molecular Medicine, Atomic Bomb Disease Institute, Nagasaki University, Sakamoto, Nagasaki, Japan

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• Yuka Nakazawa,

  Affiliations Nagasaki University Research Centre for Genomic Instability and Carcinogenesis (NRGIC), Nagasaki University, Sakamoto, Nagasaki, Japan, Department of Molecular Medicine, Atomic Bomb Disease Institute, Nagasaki University, Sakamoto, Nagasaki, Japan

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• Pradeep Vasudevan,

  Affiliation University Hospitals of Leicester NHS Trust, Leicester Royal Infirmary, Leicester, United Kingdom

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• Margaret Barrow,

  Affiliation University Hospitals of Leicester NHS Trust, Leicester Royal Infirmary, Leicester, United Kingdom

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• Grant S. Stewart,

  Affiliation School of Cancer Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom

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• A. Malcolm R. Taylor ,

  * E-mail: togi@nagasaki-u.ac.jp (TO); A.M.R.Taylor@bham.ac.uk (AMRT); m.o-driscoll@sussex.ac.uk (MO); p.a.jeggo@sussex.ac.uk (PAJ)

  Affiliation School of Cancer Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom

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• Mark O'Driscoll ,

  * E-mail: togi@nagasaki-u.ac.jp (TO); A.M.R.Taylor@bham.ac.uk (AMRT); m.o-driscoll@sussex.ac.uk (MO); p.a.jeggo@sussex.ac.uk (PAJ)

  Affiliation Human DNA Damage Response Disorders Group, Genome Damage and Stability Centre, University of Sussex, Brighton, United Kingdom

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•  [ ... ],
• Penny A. Jeggo

  * E-mail: togi@nagasaki-u.ac.jp (TO); A.M.R.Taylor@bham.ac.uk (AMRT); m.o-driscoll@sussex.ac.uk (MO); p.a.jeggo@sussex.ac.uk (PAJ)

  Affiliation Double Strand Break Repair Laboratory, Genome Damage and Stability Centre, University of Sussex, Brighton, United Kingdom

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