Details
Role
Honorary Fellow
Top Publications
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Burgess, T, Brown, NJ, Stark, Z, Bruno, DL, Oertel, R, Chong, B, Calabro, V, Kornberg, A, Sanderson, C, Kelly, J, et al.
Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions.
American Journal of Medical Genetics Part A
164(1)
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77 -86
2014
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Trost, N, Cook, M, Hammersley, E, Bui, MQ, Brotchie, P, Burgess, T, Slater, H, Storey, E, Loesch, DZ.
White Matter Changes in Patients with Parkinson's Disease Carrying Small CGG Expansion FMR1 Alleles: A Pilot Study.
Neurodegenerative Diseases
14(2)
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67 -76
2014
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Howell, KB, Kornberg, AJ, Harvey, AS, Ryan, MM, Mackay, MT, Freeman, JL, Casero, MVR, Collins, KJ, Hayman, M, Mohamed, A, et al.
Utility of chromosomal microarray.
Journal of Paediatrics and Child Health
49(9)
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716 -724
2013
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Martyn, M, Anderson, V, Archibald, A, Carter, R, Cohen, J, Delatycki, M, Donath, S, Emery, J, Halliday, J, Hill, M, et al.
Offering fragile X syndrome carrier screening: a prospective mixed-methods observational study comparing carrier screening of pregnant and non-pregnant women in the general population.
BMJ Open
3(9)
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e003660
2013
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McGillivray, G, Bruno, D, Slater, H, Amor, D.
Authors' response to: Meeting the challenge of interpreting highâresolution single nucleotide polymorphism array data: does increased diagnostic power outweigh the dilemma of rare variants.
BJOG An International Journal of Obstetrics & Gynaecology
120(10)
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1297 -1297
2013
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