Our work within the Oxford Genetics Knowledge Park (Oxford GKP) has shown that array based comparative genomic hybridisation (aCGH) is a powerful technique for detecting clinically relevant genome imbalance, offering 40-1000 times the resolution of karyo

Publications 1996-2000

1. Knight S.J.L., Chakrabarti L., Flannery A.V. and Davies K.E. (1996). A candidate gene for mild mental handicap at the FRAXE fragile site. Hum. Mol. Genet. 5. 275-282.

2. Lindsay S., Splitt M., Edney S., Berney, T.P., Knight S.J.L., Davies K.E., O'Brien O., Gale M. and Burn J (1996). PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs and macroorchidism maps to Xq28. Am. J. Hum. Genet. 58. 1120-1126.

3. Holden J.J., Julien-Inalsingh C., Chalifoux M., Wing M., Scott E., Fidler K., Swift I., Maidment B., Knight S.J.L., Davies K.E. and White B.N. (1996). Trinucleotide repeat expansion in the FRAXE locus is not common among institutionalized individuals with non-specific developmental disabilities. Am. J. Med. Genet. 64. 420-423.

4. Biancalana V., Taine L., Bouix J.C., Finck S., Chauvin A., De Verneuil H., Knight S.J.L., Stoll C., Lacombe D. and Mandel J.L. (1996). Expansion and methylation status at FRAXE can be detected on EcoRI blots used for FRAXA diagnosis: analysis of four FRAXE families with mild mental retardation in males. Am. J. Hum. Genet. 59. 847-854.

5. Ritchie R.J., Chakrabarti L., Knight S.J.L. , Harding R.M. and Davies K.E. (1997). Population genetics of the FRAXE and FRAXF GCC repeats and a novel CGG repeat in Xq28. Am. J. Med. Genet. 73. 463-469.

6. Abrams M.T., Doheny K.F., Mazzacco M.M., Knight S.J.L. Baumgardner T.L., Freund L.S., Davies K.E. and Reiss A.L. (1997). Cognitive, behavioural and neuro-anatomical assessment of two unrelated male children expressing FRAXE. Am. J. Med. Genet. 74. 73-81.

7. Giraudeau F, Aubert D, Young I, Horsley S, Knight S, Kearney L, Vergnaud G, Flint J. (1997) Molecular-cytogenetic detection of a deletion of 1p36.3. J Med Genet. 34. 314-317.

8. Institute of Molecular Medicine and National Institute of Health Collaboration (1997). A complete set of human telomeric probes and their clinical application. Nat. Genet. 14. 86-89.

9. Knight S.J.L., Horsley S.W., Regan R., Lawrie N.M., Maher E.J., Cardy D.L., Flint J. and Kearney L. (1997). Development and clinical application of an innovative fluorescence in situ hybridisation technique which detects submicroscopic rearrangements involving telomeres. Eur. J. Hum. Genet. 5. 1-8.

10. Horsley S.W., Knight S.J.L., Nixon J., Huson S., Fitchett M., Boone R.A., Hilton-Jones D., Flint J. and Kearney L. (1998). Del (18p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangements. J. Med. Genet. 35. 722-726.

11. Brackley K.J., Kilby M.D., Morton J., Whittle M.J., Knight S.J.L., Flint J. (1999) A case of recurrent congenital fetal anomalies associated with a familial subtelomeric translocation. Prenat Diagn. 19. 570-574.

12. Slavotinek A, Rosenberg M, Knight S, Gaunt L, Fergusson W, Killoran C, Clayton-Smith J, Kingston H, Campbell RH, Flint J, Donnai D, Biesecker L. (1999). Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres. J Med Genet. 36.405-411.

13. Knight S.J.L., Regan R., Horsley S.W., Kearney L, Homfray T., Winter R.M., Bolton P. and Flint J. (1999). Subtle chromosomal rearrangements in children with unexplained mental retardation. The Lancet. 354.1676-1681.

14. Knight-Jones E., Knight S.J.L., Heussler H., Kyne L., Regan R., Flint J. and Martin K. (2000). Neurodevelopmental profile of a new dysmorphic syndrome associated with submicroscopic partial deletion of 1p36.3. Dev Med Child Neurol. 42. 201-206.

15. Knight S.J.L, Lese C.M., Precht K.S., Kuc J., Ning Y., Lucas S., Regan R., Brenan M., Nicod A., Lawrie N.M., Cardy D.L., Nguyen H., Hudson T.J., Riethman H.C., Ledbetter D.H. and Flint J. (2000). An optimized set of human telomere clones for studying telomere integrity and architecture. Am J Hum Genet. 67. 320-332.

16. Knight S.J.L., Flint J (2000). Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis. J Med Genet. 37. 401-409.

17. Knight S.J.L., Flint J (2000). Screening chromosome ends for learning disability. Small chromosomal rearrangements may be behind idiopathic learning disability. BMJ. 321. 1240.

18. De Vries B.B., Bitner-Glindzicz M., Knight S.J.L., Tyson J., MacDermott K.D., Flint J., Malcom S., Winter R.M. (2000) A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome. Clin Genet. 58. 483-487.