J C K Barber

Summary

Affiliation: University of Southampton
Country: UK

Publications

  1. pmc 16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2
    John C K Barber
    Department of Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton, Hampshire, UK
    Eur J Hum Genet 21:182-9. 2013
  2. doi request reprint A novel pseudo-dicentric variant of 16p11.2-q11.2 contains euchromatin from 16p11.2-p11.1 and resembles pathogenic duplications of proximal 16q
    J C K Barber
    Department of Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton, UK
    Cytogenet Genome Res 139:59-64. 2013
  3. doi request reprint 8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients
    John C K Barber
    Faculty of Medicine, Department of Human Genetics and Genomic Medicine, University of Southampton, Southampton General Hospital, Southampton, UK
    Am J Med Genet A 161:487-500. 2013
  4. doi request reprint Is karyotyping couples experiencing recurrent miscarriage worth the cost?
    J C K Barber
    Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Salisbury, UK
    BJOG 117:885-8. 2010
  5. doi request reprint Transmitted deletions of medial 5p and learning difficulties; does the cadherin cluster only become penetrant when flanking genes are deleted?
    John C K Barber
    Human Genetics Division, Southampton University School of Medicine, Southampton General Hospital, Southampton, UK
    Am J Med Genet A 155:2807-15. 2011
  6. doi request reprint A complex medical phenotype in a patient with triplication of 2q12.3 to 2q13 characterized with oligonucleotide array CGH
    C L Mercer
    Wessex Clinical Genetics Service, Southampton University Hospitals Trust, Princess Anne Hospital, Southampton, UK
    Cytogenet Genome Res 124:179-86. 2009
  7. doi request reprint Another Family with a Euchromatic Duplication Variant of 9q13-q21.1 Derived from Segmentally Duplicated Pericentromeric Euchromatin
    J C K Barber
    Department of Human Genetics and Genomic Medicine, Faculty of Medicine, Southampton General Hospital, University of Southampton, Southampton, UK
    Cytogenet Genome Res 141:64-9. 2013
  8. ncbi request reprint Duplications of proximal 16q flanked by heterochromatin are not euchromatic variants and show no evidence of heterochromatic position effect
    J C K Barber
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK
    Cytogenet Genome Res 114:351-8. 2006
  9. pmc Directly transmitted unbalanced chromosome abnormalities and euchromatic variants
    J C K Barber
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire SP2 8BJ, UK
    J Med Genet 42:609-29. 2005

Detail Information

Publications9

  1. pmc 16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2
    John C K Barber
    Department of Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton, Hampshire, UK
    Eur J Hum Genet 21:182-9. 2013
    ..It is important to differentiate pathogenic 16p11.2-p12.2 duplications from harmless, microscopically similar euchromatic variants of proximal 16p11.2, especially at prenatal diagnosis...
  2. doi request reprint A novel pseudo-dicentric variant of 16p11.2-q11.2 contains euchromatin from 16p11.2-p11.1 and resembles pathogenic duplications of proximal 16q
    J C K Barber
    Department of Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton, UK
    Cytogenet Genome Res 139:59-64. 2013
    ....
  3. doi request reprint 8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients
    John C K Barber
    Faculty of Medicine, Department of Human Genetics and Genomic Medicine, University of Southampton, Southampton General Hospital, Southampton, UK
    Am J Med Genet A 161:487-500. 2013
    ..1 duplications in published controls, indicate that the 8p23.1 duplication syndrome may now be considered a pathogenic copy number variation (pCNV) with an estimated population prevalence of 1 in 58,000...
  4. doi request reprint Is karyotyping couples experiencing recurrent miscarriage worth the cost?
    J C K Barber
    Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Salisbury, UK
    BJOG 117:885-8. 2010
    ..At an estimated cost of 3-4 million pounds, these data raise doubts about the cost effectiveness of current policies on the routine karyotyping of couples experiencing repeated miscarriages...
  5. doi request reprint Transmitted deletions of medial 5p and learning difficulties; does the cadherin cluster only become penetrant when flanking genes are deleted?
    John C K Barber
    Human Genetics Division, Southampton University School of Medicine, Southampton General Hospital, Southampton, UK
    Am J Med Genet A 155:2807-15. 2011
    ....
  6. doi request reprint A complex medical phenotype in a patient with triplication of 2q12.3 to 2q13 characterized with oligonucleotide array CGH
    C L Mercer
    Wessex Clinical Genetics Service, Southampton University Hospitals Trust, Princess Anne Hospital, Southampton, UK
    Cytogenet Genome Res 124:179-86. 2009
    ..All intrachromosomal triplications are rare and, while partial duplications of 2q have been previously described, this patient is a unique surviving case of a triplication of proximal 2q...
  7. doi request reprint Another Family with a Euchromatic Duplication Variant of 9q13-q21.1 Derived from Segmentally Duplicated Pericentromeric Euchromatin
    J C K Barber
    Department of Human Genetics and Genomic Medicine, Faculty of Medicine, Southampton General Hospital, University of Southampton, Southampton, UK
    Cytogenet Genome Res 141:64-9. 2013
    ..1 EVs from possible pathogenic imbalances of chromosome 9, especially at prenatal diagnosis, as these EVs have no established phenotypic or reproductive consequences. The nature of the G-dark bands in 9q13-q21 EVs is briefly discussed. ..
  8. ncbi request reprint Duplications of proximal 16q flanked by heterochromatin are not euchromatic variants and show no evidence of heterochromatic position effect
    J C K Barber
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK
    Cytogenet Genome Res 114:351-8. 2006
    ..The behavioural problems in families ascertained through affected children are much less severe than those encountered in previous patients ascertained as adults...
  9. pmc Directly transmitted unbalanced chromosome abnormalities and euchromatic variants
    J C K Barber
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire SP2 8BJ, UK
    J Med Genet 42:609-29. 2005
    ....