John C. K. Barber
Wessex Regional Genetics Laboratory
Salisbury District Hospital
Salisbury
Wiltshire SP2 8BJ
UK
Name/email consistency: high
- 8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families. Barber, J.C., Bunyan, D., Curtis, M., Robinson, D., Morlot, S., Dermitzel, A., Liehr, T., Alves, C., Trindade, J., Paramos, A.I., Cooper, C., Ocraft, K., Taylor, E.J., Maloney, V.K. Mol. Cytogenet (2010)
- 8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH. Barber, J.C., Maloney, V.K., Huang, S., Bunyan, D.J., Cresswell, L., Kinning, E., Benson, A., Cheetham, T., Wyllie, J., Lynch, S.A., Zwolinski, S., Prescott, L., Crow, Y., Morgan, R., Hobson, E. Eur. J. Hum. Genet. (2008)
- Transmitted duplication of 12q21.32-12q22 includes 48 genes and has no apparent phenotypic consequences. Barber, J.C., Maloney, V.K., Kirchhoff, M., Thomas, N.S., Boyle, T.A., Castle, B. Am. J. Med. Genet. A (2007)
- Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype. Barber, J.C., Maloney, V.K., Bewes, B., Wakeling, E. Eur. J. Hum. Genet. (2006)
- Duplications of proximal 16q flanked by heterochromatin are not euchromatic variants and show no evidence of heterochromatic position effect. Barber, J.C., Zhang, S., Friend, N., Collins, A.L., Maloney, V.K., Hastings, R., Farren, B., Barnicoat, A., Polityko, A.D., Rumyantseva, N.V., Starke, H., Ye, S. Cytogenet. Genome Res. (2006)
- Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences. Barber, J.C., Thomas, N.S., Collinson, M.N., Dennis, N.R., Liehr, T., Weise, A., Belitz, B., Pfeiffer, L., Kirchhoff, M., Krag-Olsen, B., Lundsteen, C. Eur. J. Hum. Genet. (2005)
- Directly transmitted unbalanced chromosome abnormalities and euchromatic variants. Barber, J.C. J. Med. Genet. (2005)
- Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level. Barber, J.C., Maloney, V., Hollox, E.J., Stuke-Sontheimer, A., du Bois, G., Daumiller, E., Klein-Vogler, U., Dufke, A., Armour, J.A., Liehr, T. Eur. J. Hum. Genet. (2005)
