MRC Cognition and Brain Sciences UnitCerebral visual impairment: genetic diagnoses and phenotypic associations
Shaw, E., Flitcroft, I., Bowman, R., & Baker, K. (2024)
Social and emotional characteristics of girls and young women with DDX3X-associated intellectual disability: a descriptive and comparative study.
Ng-Cordell, E., Kolesnik-Taylor, A., O’Brien, S., Astle, D., Scerif, G., & Baker, K. (2023).
Journal of Autism and Developmental Disorders, 53, 3208-3219.
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FarmApp: a new assessment of cognitive control and memory for children and young people with neurodevelopmental difficulties.
Brkic, D., Ng-Cordell, E., O’Brien, S., Martin, J., Scerif, G., Astle, D., & Baker, K. (2022).
Child Neuropsychology, 28(8), 1097-1115.
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Biallelic CACNA1A variants: Review of literature and report of a child with drug-resistant epilepsy and developmental delay.
Wong-Spracklen, V. M. Y., Kolesnik, A., Eck, J., Sabanathan, S., Spasic-Boskovic, O., Maw, A., & Baker, K. (2022).
American Journal of Medical Genetics PART A, 188A, 3306-3311.
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Assessing the landscape of STXBP1-related disorders in 534 individuals.
Xian, J., Parthasarathy, S., Ruggiero, S. M., Balagura, G., Fitch, E., Helbig, K., Gan, J., Ganesan, S., Kaufman, M. C., Ellis, C. A., Lewis-Smith, D., Galer, P., Cunningham, K., O’Brien, M., Cosico, M., Baker, K., Darling, A., … Helbig, I. (2022).
Expanding the genotype and phenotype spectrum of SYT-1 associated neurodevelopmental disorder.
Melland, H., Bumbak, F., Kolesnik-Taylor, A., Ng-Cordell, E., John, A., Constantinou, P., Joss, S., Larsen, M., Fagerberg, C., Laulund, L. W., Thies, J., Emslie, F., Willemsen, M., Kleefstra, T., Pfundt, R., Barrick, R., Chang, R., Loong, L., Alfadhel, M., … Baker, K. (2022).
Genetics in Medicine, 24(4), 880-893.
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The neurodevelopmental spectrum of synaptic vesicle cycling disorders.
John, A., Ng-Cordell, E., Hanna, N., Brkic, D., & Baker, K. (2021).
Journal of Neurochemistry, 157(2), 208-228.
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Gene functional networks and autism spectrum characteristics in young people with intellectual disability: A dimensional phenotyping study.
Brkić, D., Ng-Cordell, E., O’Brien, S., Scerif, G., Astle, D., & Baker, K. (2020).
STXBP1-associated neurodevelopmental disorder: A comparative study of behavioural characteristics.
O’Brien, S., Ng-Cordell, E., Astle, D. E., Scerif, G., & Baker, K. (2019).
SYT1-associated neurodevelopmental disorder: A case series.
Baker, K., Gordon, S. L., Melland, H., Bumbak, F., Scott, D. J., Jiang, T. J., Owen, D., Turner, B. J., Boyd, S. G., Rossi, M., Al-Raqad, M., Elpeleg, O., Peck, D., Mancini, G. M. S., Wilke, M., Zollino, M., Marangi, G., Weigand, H., Borggraefe, I., … Raymond, F. L. (2018)
Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling.
Baker, K., Gordon, S. L., Grozeva, D., van Kogelenberg, M., Roberts, N. Y., Pike, M., Blair, E., Hurles, M. E., Chong, W. K., Baldeweg, T., Kurian, M. A., Boyd, S. G., Cousin, M. A., & Raymond, F. L. (2015).
