Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID
van Bon, B W M, Coe, B P, Bernier, R, Green, C, Gerdts, J, Witherspoon, K, Kleefstra, T, Willemsen, M H, Kumar, R, Bosco, P, Fichera, M, Li, D, Amaral, D, Cristofoli, F, Peeters, H, Haan, E, Romano, C, Mefford, H C, Scheffer, I, Gecz, J, de Vries, B B A, Eichler, E E
Published in Molecular psychiatry (01.01.2016)
Published in Molecular psychiatry (01.01.2016)
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Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism
Laumonnier, F, Shoubridge, C, Antar, C, Nguyen, L S, Van Esch, H, Kleefstra, T, Briault, S, Fryns, J P, Hamel, B, Chelly, J, Ropers, H H, Ronce, N, Blesson, S, Moraine, C, Gécz, J, Raynaud, M
Published in Molecular psychiatry (01.07.2010)
Published in Molecular psychiatry (01.07.2010)
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Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy
McMichael, G, Bainbridge, M N, Haan, E, Corbett, M, Gardner, A, Thompson, S, van Bon, B W M, van Eyk, C L, Broadbent, J, Reynolds, C, O'Callaghan, M E, Nguyen, L S, Adelson, D L, Russo, R, Jhangiani, S, Doddapaneni, H, Muzny, D M, Gibbs, R A, Gecz, J, MacLennan, A H
Published in Molecular psychiatry (01.02.2015)
Published in Molecular psychiatry (01.02.2015)
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A Upf3b-mutant mouse model with behavioral and neurogenesis defects
Huang, L, Shum, E Y, Jones, S H, Lou, C-H, Chousal, J, Kim, H, Roberts, A J, Jolly, L A, Espinoza, J L, Skarbrevik, D M, Phan, M H, Cook-Andersen, H, Swerdlow, N R, Gecz, J, Wilkinson, M F
Published in Molecular psychiatry (01.08.2018)
Published in Molecular psychiatry (01.08.2018)
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De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females
Palmer, E E, Stuhlmann, T, Weinert, S, Haan, E, Van Esch, H, Holvoet, M, Boyle, J, Leffler, M, Raynaud, M, Moraine, C, van Bokhoven, H, Kleefstra, T, Kahrizi, K, Najmabadi, H, Ropers, H-H, Delgado, M R, Sirsi, D, Golla, S, Sommer, A, Pietryga, M P, Chung, W K, Wynn, J, Rohena, L, Bernardo, E, Hamlin, D, Faux, B M, Grange, D K, Manwaring, L, Tolmie, J, Joss, S, Cobben, J M, Duijkers, F A M, Goehringer, J M, Challman, T D, Hennig, F, Fischer, U, Grimme, A, Suckow, V, Musante, L, Nicholl, J, Shaw, M, Lodh, S P, Niu, Z, Rosenfeld, J A, Stankiewicz, P, Jentsch, T J, Gecz, J, Field, M, Kalscheuer, V M
Published in Molecular psychiatry (01.02.2018)
Published in Molecular psychiatry (01.02.2018)
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Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing
van Eyk, C. L., Webber, D. L., Minoche, A. E., Pérez-Jurado, L. A., Corbett, M. A., Gardner, A. E., Berry, J. G., Harper, K., MacLennan, A. H., Gecz, J.
Published in Npj genomic medicine (16.09.2021)
Published in Npj genomic medicine (16.09.2021)
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HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain
Jolly, Lachlan A, Nguyen, Lam Son, Domingo, Deepti, Sun, Ying, Barry, Simon, Hancarova, Miroslava, Plevova, Pavlina, Vlckova, Marketa, Havlovicova, Marketa, Kalscheuer, Vera M, Graziano, Claudio, Pippucci, Tommaso, Bonora, Elena, Sedlacek, Zdenek, Gecz, Jozef
Published in Human molecular genetics (15.06.2015)
Published in Human molecular genetics (15.06.2015)
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Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability
Nguyen, L S, Jolly, L, Shoubridge, C, Chan, W K, Huang, L, Laumonnier, F, Raynaud, M, Hackett, A, Field, M, Rodriguez, J, Srivastava, A K, Lee, Y, Long, R, Addington, A M, Rapoport, J L, Suren, S, Hahn, C N, Gamble, J, Wilkinson, M F, Corbett, M A, Gecz, J
Published in Molecular psychiatry (01.11.2012)
Published in Molecular psychiatry (01.11.2012)
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CCDC22: a novel candidate gene for syndromic X-linked intellectual disability
Voineagu, I, Huang, L, Winden, K, Lazaro, M, Haan, E, Nelson, J, McGaughran, J, Nguyen, L S, Friend, K, Hackett, A, Field, M, Gecz, J, Geschwind, D
Published in Molecular psychiatry (01.01.2012)
Published in Molecular psychiatry (01.01.2012)
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New insights into Brunner syndrome and potential for targeted therapy
Palmer, E.E., Leffler, M., Rogers, C., Shaw, M., Carroll, R., Earl, J., Cheung, N.W., Champion, B., Hu, H., Haas, S.A., Kalscheuer, V.M., Gecz, J., Field, M.
Published in Clinical genetics (01.01.2016)
Published in Clinical genetics (01.01.2016)
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The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene
Schwartz, Charles E, Tarpey, Patrick S, Lubs, Herbert A, Verloes, Alain, May, Melanie M, Risheg, Hiba, Friez, Michael J, Futreal, P Andrew, Edkins, Sarah, Teague, Jon, Briault, Sylvain, Skinner, Cindy, Bauer-Carlin, Astrid, Simensen, Richard J, Joseph, Sumy M, Jones, Julie R, Gecz, Josef, Stratton, Michael R, Raymond, F Lucy, Stevenson, Roger E
Published in Journal of medical genetics (01.07.2007)
Published in Journal of medical genetics (01.07.2007)
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Targeted resequencing identifies genes with recurrent variation in cerebral palsy
van Eyk, C. L., Corbett, M. A., Frank, M. S. B., Webber, D. L., Newman, M., Berry, J. G., Harper, K., Haines, B. P., McMichael, G., Woenig, J. A., MacLennan, A. H., Gecz, J.
Published in Npj genomic medicine (04.11.2019)
Published in Npj genomic medicine (04.11.2019)
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Two novel JAK2 exon 12 mutations in JAK2V617F-negative polycythaemia vera patients
Butcher, C M, Hahn, U, To, L B, Gecz, J, Wilkins, E J, Scott, H S, Bardy, P G, D'Andrea, R J
Published in Leukemia (01.04.2008)
Published in Leukemia (01.04.2008)
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Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene
Fullston, T, Finnis, M, Hackett, A, Hodgson, B, Brueton, L, Baynam, G, Norman, A, Reish, O, Shoubridge, C, Gecz, J
Published in Clinical genetics (01.12.2011)
Published in Clinical genetics (01.12.2011)
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P.1.20 GOSR2: A novel form of Congenital Muscular Dystrophy
Tsai, L, Schwake, M, Corbett, M.A, Gecz, J, Berkovic, S, Shieh, P.B
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
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Mutation screening in Börjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient
Crawford, J, Lower, K M, Hennekam, R C M, Van Esch, H, Mégarbané, A, Lynch, S A, Turner, G, Gécz, J
Published in Journal of medical genetics (01.03.2006)
Published in Journal of medical genetics (01.03.2006)
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