Publications by authors named "Gillian Carpenter"

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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.
Iga Abramowicz, Gillian Carpenter, Mariaevelina Alfieri, Rita Colnaghi, Emily Outwin

Hum Mol Genet· January 2017

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Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance.
Felicity Payne, Rita Colnaghi, Nuno Rocha, Asha Seth, Julie Harris, Gillian Carpenter

J Clin Invest· September 2014

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Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.
Ghayda M Mirzaa, Benjamin Vitre, Gillian Carpenter, Iga Abramowicz, Joseph G Gleeson

Hum Genet· August 2014

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Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes.
Ying Qiao, Kajari Mondal, Valentina Trapani, Jiadi Wen, Gillian Carpenter

Hum Mutat· January 2014

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Meier-Gorlin syndrome and Wolf-Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis.
Claudia Kerzendorfer, Rita Colnaghi, Iga Abramowicz, Gillian Carpenter, Mark O'Driscoll

DNA Repair (Amst)· August 2013

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Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome.
Tomoo Ogi, Sarah Walker, Tom Stiff, Emma Hobson, Siripan Limsirichaikul, Gillian Carpenter

PLoS Genet· May 2013

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Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient.
Eleanor Raffan, Liam A Hurst, Saeed Al Turki, Gillian Carpenter, Carol Scott

Front Endocrinol (Lausanne)· August 2012

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Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome.
Claudia Kerzendorfer, Femke Hannes, Rita Colnaghi, Iga Abramowicz, Gillian Carpenter

Hum Mol Genet· May 2012

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Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome.
Akio Tanaka, Sarah Weinel, Nikoletta Nagy, Mark O'Driscoll, Joey E Lai-Cheong, Gillian Carpenter

Am J Hum Genet· March 2012

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The consequences of structural genomic alterations in humans: genomic disorders, genomic instability and cancer.
Rita Colnaghi, Gillian Carpenter, Marcel Volker, Mark O'Driscoll

Semin Cell Dev Biol· October 2011

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CUL4B-deficiency in humans: understanding the clinical consequences of impaired Cullin 4-RING E3 ubiquitin ligase function.
Claudia Kerzendorfer, Lesley Hart, Rita Colnaghi, Gillian Carpenter, Diana Alcantara

Mech Ageing Dev· August 2011

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Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome.
Emily Outwin, Gillian Carpenter, Weimin Bi, Marjorie A Withers, James R Lupski

PLoS Genet· August 2011

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Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks.
Claudia Kerzendorfer, Annabel Whibley, Gillian Carpenter, Emily Outwin, Shih-Chieh Chiang

Hum Mol Genet· April 2010

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Functional analysis of individual binding activities of the scaffold protein eIF4G.
Tracey M Hinton, Mark J Coldwell, Gillian A Carpenter, Simon J Morley, Virginia M Pain

J Biol Chem· January 2007

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