John C K Barber

John C K Barber

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John C K Barber

John C K Barber

Publications by authors named "John C K Barber"

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Reassignment of HMX1 indicates copy number variation within 4p16.1 may be an alternative cause of oculoauricular phenotypes.

Authors:
John C K Barber

Am J Med Genet A 2018 09 28;176(9):2034-2036. Epub 2018 Jul 28.

Department of Human Genetics and Genomic Medicine, University of Southampton, Southampton General Hospital, Southampton, United Kingdom.

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http://doi.wiley.com/10.1002/ajmg.a.40385
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http://dx.doi.org/10.1002/ajmg.a.40385DOI Listing
September 2018

Copy number variation of the REXO1L1 gene cluster; euchromatic deletion variant or susceptibility factor?

Eur J Hum Genet 2016 01 3;25(1):8-9. Epub 2016 Aug 3.

Cytogenetics Laboratory, Department of Pathology, Royal Columbian Hospital, New Westminster, British Columbia, Canada.

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http://dx.doi.org/10.1038/ejhg.2016.104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5159753PMC
January 2016

8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients.

Am J Med Genet A 2013 Mar 23;161A(3):487-500. Epub 2013 Jan 23.

Faculty of Medicine, Department of Human Genetics and Genomic Medicine, University of Southampton, Southampton General Hospital, Southampton, UK.

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http://dx.doi.org/10.1002/ajmg.a.35767DOI Listing
March 2013

16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2.

Eur J Hum Genet 2013 Feb 25;21(2):182-9. Epub 2012 Jul 25.

Department of Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton, Hampshire, UK.

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http://dx.doi.org/10.1038/ejhg.2012.144DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548261PMC
February 2013

Transmitted deletions of medial 5p and learning difficulties; does the cadherin cluster only become penetrant when flanking genes are deleted?

Am J Med Genet A 2011 Nov 30;155A(11):2807-15. Epub 2011 Sep 30.

Human Genetics Division, Southampton University School of Medicine, Southampton General Hospital, Southampton, UK.

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http://dx.doi.org/10.1002/ajmg.a.34241DOI Listing
November 2011

A de novo 4q34 interstitial deletion of at least 9.3 Mb with no discernible phenotypic effect.

Am J Med Genet A 2010 Jul;152A(7):1764-9

Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Salisbury, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.33426DOI Listing
July 2010

Inverted duplication of 1q32.1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy.

Am J Med Genet A 2009 Feb;149A(4):793-7

Wessex Clinical Genetics Service, Southampton University Hospitals Trust, Princess Anne Hospital, Southampton, UK.

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http://dx.doi.org/10.1002/ajmg.a.32463DOI Listing
February 2009

Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties.

Eur J Hum Genet 2009 Jan 20;17(1):37-43. Epub 2008 Aug 20.

North East London Regional Cytogenetics Laboratory, Great Ormond Street Hospital NHS Trust, London, UK.

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http://dx.doi.org/10.1038/ejhg.2008.133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2985953PMC
January 2009

Defensins and the dynamic genome: what we can learn from structural variation at human chromosome band 8p23.1.

Genome Res 2008 Nov;18(11):1686-97

Department of Genetics, University of Leicester, Leicester LE1 7RH, United Kingdom.

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http://dx.doi.org/10.1101/gr.080945.108DOI Listing
November 2008

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

N Engl J Med 2008 Oct 10;359(16):1685-99. Epub 2008 Sep 10.

University of Washington School of Medicine, Seattle 98195, USA.

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http://dx.doi.org/10.1056/NEJMoa0805384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2703742PMC
October 2008

Terminal 3p deletions: phenotypic variability, chromosomal non-penetrance, or gene modification?

Authors:
John C K Barber

Am J Med Genet A 2008 Jul;146A(14):1899-901

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http://dx.doi.org/10.1002/ajmg.a.32387DOI Listing
July 2008

8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH.

Eur J Hum Genet 2008 Jan 17;16(1):18-27. Epub 2007 Oct 17.

National Genetics Reference Laboratory (Wessex), Salisbury NHS Foundation Trust, Salisbury, Wiltshire, UK.

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http://dx.doi.org/10.1038/sj.ejhg.5201932DOI Listing
January 2008

Transmitted duplication of 12q21.32-12q22 includes 48 genes and has no apparent phenotypic consequences.

Am J Med Genet A 2007 Mar;143A(6):615-8

Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Salisbury.

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http://dx.doi.org/10.1002/ajmg.a.31614DOI Listing
March 2007

Novel deletion variants of 9q13-q21.12 and classical euchromatic variants of 9q12/qh involve deletion, duplication and triplication of large tracts of segmentally duplicated pericentromeric euchromatin.

Eur J Hum Genet 2007 Jan 20;15(1):45-52. Epub 2006 Sep 20.

Cytogenetics Laboratory, Medical Genetics Department, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK.

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http://dx.doi.org/10.1038/sj.ejhg.5201720DOI Listing
January 2007

Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype.

Eur J Hum Genet 2006 Jun;14(6):739-43

Wessex Regional Genetics Laboratory, Salisbury Health Care NHS Trust, Salisbury District Hospital, Salisbury, UK.

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http://dx.doi.org/10.1038/sj.ejhg.5201605DOI Listing
June 2006