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Kate Baker
Programme Leader
01223 767744
CBSU publications
SHAW, E., Flitcroft, I., Bowman, R., BAKER, K. (2024) Cerebral Visual Impairment: genetic diagnoses and phenotype associations, Journal of Medical Genetics, 61(6):605-612 [Open Access]

Radford, E.J., Tan, H.K., Andersson, M.H.L., Stephenson, J.D., Gardner, E.J., Ironfield, H., Waters, A.J., Gitterman, D., Lindsay, S., Abascal, F., Martincorena, I., Kolesnik-Taylor, A., Ng-Cordell, E., Firth, H.V., BAKER, K. , Perry, J.R.B., Adams, D.J., Gerety, S.S., Hurles, M.E. (2023) Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation, Nature Communications, 14(1): 7702 [Open Access]

BAKER, K. (2023) Desert Island Papers, Brain and Neuroscience Advances, 7, 23982128231199006 [Open Access]

Robertson, K., Richards, C., Scerif, G., BAKER, K. , Tye, C., MARTIN, J. (2023) Experiences of parents of children with rare neurogenetic conditions during the COVID-19 pandemic: an interpretative phenomenological analysis, BMC Psychology, 11(1):179 [Open Access]

Wong-Spracklen, V.M.Y., Kolesnik, A., Eck, J., Sabanthan, S., Spasic-Boskovic, O., Maw, A., BAKER, K. (2022) Biallelic CACNA1A variants – review of literature and report of a child with drug-resistant epilepsy and developmental delay, American Journal of Medical Genetics Part A, 188(11), 3306-3311 [Open Access]

Wolstencroft, J., Wicks, F., Srinivasan, R., Wynn, S., Ford, T., BAKER, K. , Chawmner, S.J.R.A., Hall, J., van den Bree, M., Owen, M.J., IMAGINE Study, Skuse, D., Raymond, L. (2022) Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE – The UK National Cohort Study, Lancet Psychiatry, 9(9), 715-724 [Open Access]

BRKIC, D., NG-CORDELL, E., O’BRIEN, S., MARTIN, J., SCERIF, G., ASTLE, D., BAKER, K. (2022) FarmApp: a new assessment of cognitive control and memory for children and young people with neurodevelopmental difficulties, Child Neuropsychology [Open Access]

NG-CORDELL, E., KOLESNIK-TAYLOR, A., O’BRIEN, S., ASTLE, D., SCERIF, G., BAKER, K. (2022) Social and emotional characteristics of girls and young women with DDX3X-associated intellectual disability: A descriptive and comparative study, Journal of Autism and Developmental Disorders, May 10 2022 [Open Access]

Melland, H., Bumbak, F., KOLESNIK-TAYLOR, A., NG-VORDELL, E., John, A., Constantinou, P., Joss, S., Larsen, M., Fagerberg, C., Thies, J., Emslie, F., Willemsen, M., Kleefstra, T., Pfundt, R., Barrick, R., Chang, R., Loong, L., Alfadhel, M., van der Smagt, J., Nizon, M., Kurian, M., Scott, D.J., Ziarek, J.J., Gordon, S., BAKER, K. (2022) Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder, Genetics in Medicine, 29 Jan 2022, 24(4):880-893 [Open Access]

Xian, J., Parthasarathy, S., McKeown, S., 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., Veiga de Goes, F., El Achkar, C.M., Doering, J.H., Furia, F., García-Cazorla, A., Gardella, E., Geertjens, L., Klein, C., KOLEESNIK-TAYLOR, A., Lammertse, H., Lee, J., Mackie, A., Misra-Isrie, M., Olson, H., Sexton, E., Sheidley, B., Smith, L., Sotero, L., Stamberger, H., Syrbe, S., Thalwitzer, K.M., van Berkel, A., van Haelst, M., Yuskaitis, C. Weckhuysen, S., Prosser, B., Rigby, C.S., Demarest, S., Pierce, S., Zhang, Y., Steensbjerre Møller, R., Bruining, H., Poduri, A., Zara, F., Verhage, M., Striano, P., and Helbig, I., (2022) Assessing the landscape of STXBP1-related disorders in 534 individuals, Brain, 01 Jun 2022, 145(5):1668-1683 [Open Access]

BAKER, K. , BRKIC, D, Ng-Cordell, E., O’BRIEN, S., Scerif, G., ASTLE, D. (2020) Gene functional networks and autism spectrum characteristics in young people with intellectual disability: a dimensional phenotyping study, Molecular Autism, 11(1), 98 [Open Access]

NORD, C.L., DALMAIJER, E., Armstrong, T., BAKER, K. , DALGLEISH, T. (2020) A causal role for gastric rhythm in human disgust avoidance, Current Biology, 31(3), 629-634.e3 [Open Access]

ABINAYAH, J., NG-CORDELL, E., HANNA, N., BRKIC, D., BAKER, K. (2020) The Neurodevelopmental Spectrum of Synaptic Vesicle Cycling Disorders, Journal of Neuroschemistry, 157(2):208-228 [Open Access]

BAKER, K. , Devine, R., NG-CORDELL, E., Raymond, L., IMAGINE-DI Consortium, Hughes, C. (2020) Childhood intellectual disability and parents’ mental health: Integrating social, psychological, and genetic influence, British Journal of Psychiatry, First View, March 2020 [Open Access]

BRKIC, D., Hawkins, E., AKARCA, D., ZHANG, M., Woolrich, M., BAKER, K. , ASTLE, D. (2019) Functional network dynamics in a neurodevelopmental disorder of known genetic origin, Human Brain Mapping, 41(2):530-544 [Open Access]

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., Haack, T., Stark, Z., Sadedin, S., Broad Center for Mendelian Genomics, Tan, T.Y., Jiang, Y. Gibbs, R.A., Ellingwood, S., Amaral, M., Kelley, W., Kurian, M.A., Cousin, M.A., Raymond, F.L. (2018) SYT1-associated neurodevelopmental disorder: a case series., Brain, 141, 2576–2591 | [Open Access]

BATHELT, J., Barnes, J., Raymond, L.F., Baker, K. , ASTLE, D. (2017) Global and local connectivity differences converge with gene expression in a neurodevelopmental disorder of known genetic origin, Cerebral Cortex, 27(7):3806-3817 [Open Access]

BATHELT, J., ASTLE, D., BARNES, J., Raymond, L.F., & Baker, K. (2016) Structural brain abnormalities in a single gene disorder associated with epilepsy, language impairment and intellectual disability, Neuroimage: Clinical, 12: 655-665 [Open Access]

ASTLE, D., Barnes, J.,m Nobre, K., Woolrich, M., Baker, K. (2016) Training working memory in childhood enhances coupling between fronto-parietal control network and task-related regions, Journal of Neuroscience, 36(34):9001-9011 [Open Access]

ASTLE, D.E., Barnes, J.J.M., Woolrich, M.W.., Baker, K. , Colclough, G.L. (2016) Electrophysiological measures of resting state functional connectivity and their relationship with working memory capacity in childhood, Developmental Science, 19(1), 19-31 [Open Access]

Baker, K. , Scerif, G., Astle, D.E., Fletcher, P.C., Raymond, F.L. (2015) Psychopathology and cognitive performance in individuals with membrane-associated guanylate kinase mutations: a functional network phenotyping study., Journal of Neurodevelopmental Disorders, 7(1), 8 [Open Access]

Baker, K. , ASTLE, D.E., Scerif, G., Barnes, J., Smith, J., Moffat, G., Gillard, J, Baldeweg, T., and Raymond, F.L (2015) Epilepsy, cognitive deficits and neuroanatomy in males with ZDHHC9 mutations., Annals of Clinical and Translational Neurology, 2(5), 559-569 [Open Access]

ASTLE, D., Barnes, J.J., Baker, K. , Colclough, G.L., Woolrich, M.W. (2015) Cognitive training enhances intrinsic brain connectivity in childhood, Journal of Neuroscience, 35(16), 6277-6283 [Open Access]