Details
Role
Clinical Geneticist
Group
Clinical Services
Top Publications
-
Fanjul‐Fernández, M, Brown, NJ, Hickey, P, Diakumis, P, Rafehi, H, Bozaoglu, K, Green, CC, Rattray, A, Young, S, Alhuzaimi, D, et al.
A family study implicates GBE1 in the etiology of autism spectrum disorder.
Human Mutation
43(1)
:
16 -29
2022
view publication
-
Khan, W, Corben, LA, Bilal, H, Vivash, L, Delatycki, MB, Egan, GF, Harding, IH.
Neuroinflammation in the Cerebellum and Brainstem in Friedreich Ataxia: An [18F]‐FEMPA PET Study.
Movement Disorders
37(1)
:
218 -224
2022
view publication
-
Shepherd, RF, Werner-Lin, A, Keogh, LA, Delatycki, MB, Forrest, LE.
Reproduction and Genetic Responsibility: An Interpretive Description of Reproductive Decision-Making for Young People With Li-Fraumeni Syndrome.
Qualitative Health Research
32(1)
:
168 -181
2022
view publication
-
Bournazos, AM, Riley, LG, Bommireddipalli, S, Ades, L, Akesson, LS, Al-Shinnag, M, Alexander, SI, Archibald, AD, Balasubramaniam, S, Berman, Y, et al.
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Genetics in Medicine
24(1)
:
130 -145
2022
view publication
-
Ngo, T, Nguyen, DC, Pathirana, PN, Corben, LA, Delatycki, MB, Horne, M, Szmulewicz, DJ, Roberts, M.
Federated Deep Learning for the Diagnosis of Cerebellar Ataxia: Privacy Preservation and Auto-Crafted Feature Extractor.
IEEE Transactions on Neural Systems and Rehabilitation Engineering
30:
803 -811
2022
view publication
