المؤلفون: Kayumi, S., Pérez-Jurado, L.A., Palomares, M., Rangu, S., Sheppard, S.E., Chung, W.K., Kruer, M.C., Kharbanda, M., Amor, D.J., McGillivray, G., Cohen, J.S., García-Miñaúr, S., van Eyk, C.L., Harper, K., Jolly, L.A., Webber, D.L., Barnett, C.P., Santos-Simarro, F., Pacio-Míguez, M., Pozo, A.D.

المصدر: http://dx.doi.org/10.1016/j.gim.2022.08.006Test.

مصطلحات موضوعية: Autism, Cerebral palsy, Familial exudative vitreoretinopathy, Microcephaly, Wnt beta catenin signaling pathway, Humans, Genomics, Phenotype, beta Catenin, Intellectual Disability, Wnt Signaling Pathway, Neurodevelopmental Disorders

وصف الملف: application/pdf

العلاقة: http://purl.org/au-research/grants/nhmrc/1099163Test; http://purl.org/au-research/grants/nhmrc/1155224Test; Genetics in Medicine, 2022; 24(11):2351-2366; https://hdl.handle.net/2440/138076Test; van Eyk, C.L. [0000-0003-0345-9944]; Jolly, L.A. [0000-0003-4538-2658]; Barnett, C.P. [0000-0003-1717-3824]; Gecz, J. [0000-0002-7884-6861]; Corbett, M.A. [0000-0001-9298-3072]

الإتاحة: https://doi.org/10.1016/j.gim.2022.08.006Test
https://hdl.handle.net/2440/138076Test

المؤلفون: Bennett, M.F., Hildebrand, M.S., Kayumi, S., Corbett, M.A., Gupta, S., Ye, Z., Krivanek, M., Burgess, R., Henry, O.J., Damiano, J.A., Boys, A., Gecz, J., Bahlo, M., Scheffer, I.E., Berkovic, S.F.

المصدر: http://dx.doi.org/10.1212/nxg.0000000000000652Test.

وصف الملف: application/pdf

العلاقة: http://purl.org/au-research/grants/nhmrc/1054618Test; http://purl.org/au-research/grants/nhmrc/1091593Test; http://purl.org/au-research/grants/nhmrc/1079058Test; http://purl.org/au-research/grants/nhmrc/1129054Test; http://purl.org/au-research/grants/nhmrc/1102971Test; http://purl.org/au-research/grants/nhmrc/1104831Test; http://purl.org/au-research/grants/nhmrc/GNT1155224Test; http://purl.org/au-research/grants/nhmrc/1063799Test; Neurology: Genetics, 2022; 8(1):e0652-1-e0652-11; https://hdl.handle.net/2440/134592Test; Corbett, M.A. [0000-0001-9298-3072]; Gecz, J. [0000-0002-7884-6861]

الإتاحة: https://doi.org/10.1212/NXG.0000000000000652Test
https://doi.org/10.1212/nxg.0000000000000652Test
https://hdl.handle.net/2440/134592Test

المؤلفون: Kayumi, S, Perez-Jurado, LA, Palomares, M, Rangu, S, Sheppard, SE, Chung, WK, Kruer, MC, Kharbanda, M, Amor, DJ, McGillivray, G, Cohen, JS, Garcia-Minaur, S, van Eyk, CL, Harper, K, Jolly, LA, Webber, DL, Barnett, CP, Santos-Simarro, F, Pacio-Miguez, M, del Pozo, A, Bakhtiari, S, Deardorff, M, Dubbs, HA, Izumi, K, Grand, K, Gray, C, Mark, PR, Bhoj, EJ, Li, D, Ortiz-Gonzalez, XR, Keena, B, Zackai, EH, Goldberg, EM, de Nanclares, GP, Pereda, A, Llano-Rivas, I, Arroyo, I, Fernandez-Cuesta, MA, Thauvin-Robinet, C, Faivre, L, Garde, A, Mazel, B, Bruel, A-L, Tress, ML, Brilstra, E, Fine, AS, Crompton, KE, Stegmann, APA, Sinnema, M, Stevens, SCJ, Nicolai, J, Lesca, G, Lion-Francois, L, Haye, D, Chatron, N, Piton, A, Nizon, M, Cogne, B, Srivastava, S, Bassetti, J, Muss, C, Gripp, KW, Procopio, RA, Millan, F, Morrow, MM, Assaf, M, Moreno-De-Luca, A, Joss, S, Hamilton, MJ, Bertoli, M, Foulds, N, McKee, S, MacLennan, AH, Gecz, J, Corbett, MA

العلاقة: pii: S1098-3600(22)00897-8; Kayumi, S., Perez-Jurado, L. A., Palomares, M., Rangu, S., Sheppard, S. E., Chung, W. K., Kruer, M. C., Kharbanda, M., Amor, D. J., McGillivray, G., Cohen, J. S., Garcia-Minaur, S., van Eyk, C. L., Harper, K., Jolly, L. A., Webber, D. L., Barnett, C. P., Santos-Simarro, F., Pacio-Miguez, M. ,. Corbett, M. A. (2022). Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants. GENETICS IN MEDICINE, 24 (11), pp.2351-2366. https://doi.org/10.1016/j.gim.2022.08.006Test.; http://hdl.handle.net/11343/322233Test

الإتاحة: https://doi.org/10.1016/j.gim.2022.08.006Test
http://hdl.handle.net/11343/322233Test

المؤلفون: Bennett, MF, Hildebrand, MS, Kayumi, S, Corbett, MA, Gupta, S, Ye, Z, Krivanek, M, Burgess, R, Henry, OJ, Damiano, JA, Boys, A, Gecz, J, Bahlo, M, Scheffer, IE, Berkovic, SF

العلاقة: NHMRC/1129054; NHMRC/1079058; NHMRC/1104831; NHMRC/1091593; NHMRC/1063799; pii: NG2021017195; Bennett, M. F., Hildebrand, M. S., Kayumi, S., Corbett, M. A., Gupta, S., Ye, Z., Krivanek, M., Burgess, R., Henry, O. J., Damiano, J. A., Boys, A., Gecz, J., Bahlo, M., Scheffer, I. E. & Berkovic, S. F. (2022). Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy. NEUROLOGY-GENETICS, 8 (1), https://doi.org/10.1212/NXG.0000000000000652Test.; http://hdl.handle.net/11343/301746Test

الإتاحة: https://doi.org/10.1212/NXG.0000000000000652Test
http://hdl.handle.net/11343/301746Test

المؤلفون: Field, M.J., Sharma, R., Hackett, A., Kayumi, S., Shoubridge, C., Ewans, L.J., Ivancevic, A.M., Dudding-Byth, T., Carroll, R., Kroes, T., Gardner, A.E., Sullivan, P., Ha, T.T., Schwartz, C.E., Cowley, M.J., Dinger, M.E., Palmer, E.E., Christie, L., Shaw, M., Roscioli, T.

المصدر: http://dx.doi.org/10.1002/humu.24207Test.

مصطلحات موضوعية: gene regulation, intellectual disability, non-coding, RNA-Seq, splicing, transcriptome, whole genome sequencing, X-linked

وصف الملف: application/pdf

العلاقة: Human Mutation, 2021; 42(7):835-847; https://hdl.handle.net/2440/134886Test; Sharma, R. [0000-0001-7976-8386]; Shoubridge, C. [0000-0002-0157-3084]; Carroll, R. [0000-0002-6979-3710]; Gardner, A.E. [0009-0009-7321-1697]; Shaw, M. [0000-0002-5060-190X]; Gecz, J. [0000-0002-7884-6861]; Corbett, M.A. [0000-0001-9298-3072]

الإتاحة: https://doi.org/10.1002/humu.24207Test
https://hdl.handle.net/2440/134886Test