Research Topics
| John Ck BarberSummaryAffiliation: Salisbury District Hospital Country: UK Publications
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Detail Information
Publications
Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequencesJohn C K Barber
Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire SP2 8BJ, UK
Eur J Hum Genet 13:283-91. 2005..As a result, published cases of transmitted imbalances have been collected as a guide to the possible significance of such findings in the future (see the 'Chromosome Anomaly Collection' at www.som.soton.ac.uk/research/geneticsdiv)...- 8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new familiesJohn Ck Barber
Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, SP2 8BJ, UK
Mol Cytogenet 3:3. 2010..To our knowledge, the 8p23.1 duplication syndrome has been described at prenatal diagnosis only once and we report our experience with four further apparent duplications ascertained at prenatal diagnosis... - 8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGHJohn C K Barber
National Genetics Reference Laboratory Wessex, Salisbury NHS Foundation Trust, Salisbury, Wiltshire, UK
Eur J Hum Genet 16:18-27. 2008..Our results demonstrate that direct transmission does not distinguish genuine duplications from euchromatic variants and illustrate the power of array CGH to reveal unexpected additional imbalances in affected patients... - Transmitted duplication of 12q21.32-12q22 includes 48 genes and has no apparent phenotypic consequencesJohn C K Barber
Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Salisbury
Am J Med Genet A 143:615-8. 2007 - 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... - Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotypeJohn C K Barber
Wessex Regional Genetics Laboratory, Salisbury Health Care NHS Trust, Salisbury District Hospital, Salisbury, UK
Eur J Hum Genet 14:739-43. 2006..25 Mb of the ancestral chromosome 2B from which chromosome 2 was formed in man. These families provide further evidence that heterozygous deletions of regions of low gene density are compatible with a normal phenotype... - Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular levelJohn C K Barber
Wessex Regional Genetics Laboratory, Salisbury Hospital NHS Trust, Salisbury, Wiltshire, UK
Eur J Hum Genet 13:1131-6. 2005..These results distinguish duplications of 8p23.1 with clinically significant consequences from benign copy number variants, which have not yet been associated with qualitative or quantitative traits... - Directly transmitted unbalanced chromosome abnormalities and euchromatic variantsJ C K Barber
Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire SP2 8BJ, UK
J Med Genet 42:609-29. 2005.... - A de novo 4q34 interstitial deletion of at least 9.3 Mb with no discernible phenotypic effectMark S Bateman
Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Salisbury, United Kingdom
Am J Med Genet A 152:1764-9. 2010.... - 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 euchromatinLionel R Willatt
Cytogenetics Laboratory, Medical Genetics Department, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK
Eur J Hum Genet 15:45-52. 2007..3 Mb). The BACs identified in this study should in future make it possible to differentiate between clinically significant deletions or duplications and euchromatic variants with no established phenotypic consequences... - Terminal 3p deletions: phenotypic variability, chromosomal non-penetrance, or gene modification?John C K Barber
Am J Med Genet A 146:1899-901. 2008 - Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypesHeather C Mefford
University of Washington School of Medicine, Seattle 98195, USA
N Engl J Med 359:1685-99. 2008..Advances in technologies to detect these changes allow for the routine identification of submicroscopic imbalances in large numbers of patients... - The variant inv(2)(p11.2q13) is a genuinely recurrent rearrangement but displays some breakpoint heterogeneityIna Fickelscher
Institut fur Humangenetik und Anthropologie, Friedrich Schiller University, Jena, Germany
Am J Hum Genet 81:847-56. 2007..2q13): the majority have arisen independently in different ancestors, while a minority either have been transmitted from a common founder or have different breakpoints at the molecular cytogenetic level...