J C K Barber

Summary

Affiliation: University of Southampton
Country: UK

Publications

  1. ncbi 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. ncbi 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. ncbi 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. ncbi 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. ncbi 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. ncbi 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. ncbi 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

Detail Information

Publications7

  1. ncbi 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. ncbi 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. ncbi 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. ncbi 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. ncbi 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. ncbi 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. ncbi 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...