Details
Role
Honorary Fellow
Top Publications
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Bruno, DL, Anderlid, B-M, Lindstrand, A, van Ravenswaaij-Arts, C, Ganesamoorthy, D, Lundin, J, Martin, CL, Douglas, J, Nowak, C, Adam, MP, et al.
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.
Journal of Medical Genetics
47(5)
:
299
2010
view publication
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Godler, DE, Tassone, F, Loesch, DZ, Taylor, AK, Gehling, F, Hagerman, RJ, Burgess, T, Ganesamoorthy, D, Hennerich, D, Gordon, L, et al.
Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.
Human Molecular Genetics
19(8)
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1618 -1632
2010
view publication
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Coman, D, Yaplito-Lee, J, La, P, Nasioulas, S, Bruno, D, Slater, HR, Stock-Myer, SE, Lynch, EL, Gardner, RJM.
Three Mendelian disorders (chronic granulomatous disease, retinitis pigmentosa, ornithine transcarbamylase deficiency) in a young woman with an X chromosome deletion, del(X)(p11.4p21.1).
Molecular Genetics and Metabolism
99(3)
:
329
2010
view publication
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Wincent, J, Bruno, DL, van Bon, BWM, Bremer, A, Stewart, H, Bongers, EMHF, Ockeloen, CW, Willemsen, MH, Keays, DAD, Baird, G, et al.
Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications.
Molecular Syndromology
1(5)
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246 -254
2010
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Godler, DE, Loesch, DZ, Huggins, R, Gordon, L, Slater, HR, Gehling, F, Burgess, T, Choo, KA.
Improved Methodology for Assessment of mRNA Levels in Blood of Patients with FMR1 Related Disorders.
BMC Clinical Pathology
9(1)
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5
2009
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