J C K Barber
Affiliation: University of Southampton
- 16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2John 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...
- A novel pseudo-dicentric variant of 16p11.2-q11.2 contains euchromatin from 16p11.2-p11.1 and resembles pathogenic duplications of proximal 16qJ 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....
- 8p23.1 duplication syndrome; common, confirmed, and novel features in six further patientsJohn 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...
- 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...
- 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....
- A complex medical phenotype in a patient with triplication of 2q12.3 to 2q13 characterized with oligonucleotide array CGHC 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...
- Duplications of proximal 16q flanked by heterochromatin are not euchromatic variants and show no evidence of heterochromatic position effectJ 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...