Details
Role
Honorary Fellow
Top Publications
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Bruno, DL, Ganesamoorthy, D, Schoumans, J, Bankier, A, Coman, D, Delatycki, M, Gardner, RJM, Hunter, M, James, PA, Kannu, P, et al.
Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.
Journal of Medical Genetics
46(2)
:
123
2009
view publication
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Khaniani, MS, Kalitsis, P, Burgess, T, Slater, HR.
An improved Diagnostic PCR Assay for identification of Cryptic Heterozygosity for CGG Triplet Repeat Alleles in the Fragile X Gene (FMR1).
Molecular Cytogenetics
1(1)
:
5
2008
view publication
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Metcalfe, S, Jacques, A, Archibald, A, Burgess, T, Collins, V, Henry, A, McNamee, K, Sheffield, L, Slater, H, Wake, S, et al.
A model for offering carrier screening for fragile X syndrome to nonpregnant women: results from a pilot study.
Genetics in Medicine
10(7)
:
525 -535
2008
view publication
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Metcalfe, S, Jacques, A, Archibald, A, Burgess, T, Collins, V, Henry, A, McNamee, K, Sheffield, L, Slater, H, Wake, S, et al.
A model for offering carrier screening for fragile X syndrome to nonpregnant women: results from a pilot study..
Genetics in Medicine
10(7)
:
525 -535
2008
view publication
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Prabhakara, K, Bruno, DL, Padman, P, Prasad, S, Kumar, RS, Slater, HR, Ramadevi, AR.
Prenatal detection of deletion–duplication of chromosome 3 arising from meiotic recombination of a familial pericentric inversion.
Prenatal Diagnosis
28(5)
:
466 -468
2008
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