Gillian Carpenter

Gillian Carpenter

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Gillian Carpenter

Gillian Carpenter

Publications by authors named "Gillian Carpenter"

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14Publications

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Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network.

Hum Mol Genet 2017 01;26(1):19-32

Human DNA damage Response Disorders Group, Genome Damage & Stability Centre, School of Life Sciences, University of Sussex, Falmer, Brighton, UK.

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http://dx.doi.org/10.1093/hmg/ddw364DOI Listing
January 2017

Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.

Hum Genet 2014 Aug 20;133(8):1023-39. Epub 2014 Apr 20.

Division of Genetic Medicine, Department of Pediatrics, Center for Integrative Brain Research, Seattle Children's Research Institute, University of Washington, Seattle, WA, USA.

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http://link.springer.com/10.1007/s00439-014-1443-3
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http://dx.doi.org/10.1007/s00439-014-1443-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4415612PMC
August 2014

Meier-Gorlin syndrome and Wolf-Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis.

DNA Repair (Amst) 2013 Aug 23;12(8):637-44. Epub 2013 May 23.

Human DNA Damage Response Disorders Group, Genome Damage & Stability Centre, University of Sussex, Brighton, East Sussex BN1 9RQ, United Kingdom.

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http://dx.doi.org/10.1016/j.dnarep.2013.04.016DOI Listing
August 2013

Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome.

Hum Mol Genet 2012 May 10;21(10):2181-93. Epub 2012 Feb 10.

Human DNA Damage Response Disorders Group, Genome Damage and Stability Centre, University of Sussex, Brighton BN1 9RQ, UK.

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http://dx.doi.org/10.1093/hmg/dds033DOI Listing
May 2012

The consequences of structural genomic alterations in humans: genomic disorders, genomic instability and cancer.

Semin Cell Dev Biol 2011 Oct 23;22(8):875-85. Epub 2011 Jul 23.

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

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http://linkinghub.elsevier.com/retrieve/pii/S108495211100096
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http://dx.doi.org/10.1016/j.semcdb.2011.07.010DOI Listing
October 2011

CUL4B-deficiency in humans: understanding the clinical consequences of impaired Cullin 4-RING E3 ubiquitin ligase function.

Mech Ageing Dev 2011 Aug 23;132(8-9):366-73. Epub 2011 Feb 23.

Human DNA Damage Response Disorders Group, Genome Damage and Stability Centre, University of Sussex, Brighton BN1 9RQ, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S00476374110002
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http://dx.doi.org/10.1016/j.mad.2011.02.003DOI Listing
August 2011

Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome.

PLoS Genet 2011 Aug 25;7(8):e1002247. Epub 2011 Aug 25.

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

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http://dx.doi.org/10.1371/journal.pgen.1002247DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3161930PMC
August 2011

Functional analysis of individual binding activities of the scaffold protein eIF4G.

J Biol Chem 2007 Jan 27;282(3):1695-708. Epub 2006 Nov 27.

Department of Biochemistry, School of Life Sciences, University of Sussex, Falmer, Brighton BN1 9QG, United Kingdom.

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http://www.jbc.org/lookup/doi/10.1074/jbc.M602780200
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http://dx.doi.org/10.1074/jbc.M602780200DOI Listing
January 2007