Increased RPA1 Gene Dosage Affects Genomic Stability Potentially Contributing to 17p13.3 Duplication Syndrome

Open Access

Peer-reviewed

Research Article

Emily Outwin,

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

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

Affiliations Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America, Medical Genetics Laboratories, Baylor College of Medicine, Houston, Texas, United States of America
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Marjorie A. Withers,

Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
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James R. Lupski,

Affiliations Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America, Medical Genetics Laboratories, Baylor College of Medicine, Houston, Texas, United States of America, Texas Children's Hospital, Houston, Texas, United States of America, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United States of America
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Mark O'Driscoll

* E-mail: m.o-driscoll@sussex.ac.uk

Affiliation Human DNA Damage Response Disorders Group, Genome Damage and Stability Centre, University of Sussex, Brighton, United Kingdom
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Chromatin
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DNA damage
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Genomics
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Synthesis phase
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Chromosome structure and function
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Haploinsufficiency
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DNA replication
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Recombinase polymerase amplification
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