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Cellular and clinical impact of haploinsufficiency for genes involved in ATR-signaling

journal contribution
posted on 2023-06-08, 00:43 authored by Mark O'DriscollMark O'Driscoll, William B Dobyns, Johanna M van Hagen, Penny Jeggo
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History

Publication status

  • Published

Journal

American Journal of Human Genetics

ISSN

0002-9297

Publisher

Elsevier

External DOI

Issue

1

Volume

81

Page range

77-86

Pages

10.0

Department affiliated with

  • Sussex Centre for Genome Damage Stability Publications

Notes

Corresponding author, originated idea that defective ATR-pathway function may be a feature of these disorders, developed assays, carried out cellular work. First description of defective DNA damage responses in BPES-ATR+/-, MDL and Williams syndrome.

Full text available

  • No

Peer reviewed?

  • Yes

Legacy Posted Date

2012-02-06

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