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Bruno, Ivone G., Karam, Rachid, Huang, Lulu, Bhardwaj, Anjana, Lou, Chih H., Shum, Eleen Y., Song, Hye-Won, Corbett, Mark A., Gifford, Wesley D., Gecz, Jozef, Pfaff, Samuel L., Wilkinson, Miles F.
Published in Molecular cell (20.05.2011)
Published in Molecular cell (20.05.2011)
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PCDH19 regulation of neural progenitor cell differentiation suggests asynchrony of neurogenesis as a mechanism contributing to PCDH19 Girls Clustering Epilepsy
Homan, Claire C., Pederson, Stephen, To, Thu-Hien, Tan, Chuan, Piltz, Sandra, Corbett, Mark A., Wolvetang, Ernst, Thomas, Paul Q., Jolly, Lachlan A., Gecz, Jozef
Published in Neurobiology of disease (01.08.2018)
Published in Neurobiology of disease (01.08.2018)
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A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability
LINGLI HUANG, JOLLY, Lachlan A, HACKETT, Anna, FIELD, Michael, FROYEN, Guy, HAO HU, HAAS, Stefan A, ROPERS, Hans-Hilger, KALSCHEUER, Vera M, CORBETT, Mark A, GECZ, Jozef, WILLIS-OWEN, Saffron, GARDNER, Alison, KUMAR, Raman, DOUGLAS, Evelyn, SHOUBRIDGE, Cheryl, WIECZOREK, Dagmar, TZSCHACH, Andreas, COHEN, Monika
Published in American journal of human genetics (05.10.2012)
Published in American journal of human genetics (05.10.2012)
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PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome
Heron, Sarah E., Grinton, Bronwyn E., Kivity, Sara, Afawi, Zaid, Zuberi, Sameer M., Hughes, James N., Pridmore, Clair, Hodgson, Bree L., Iona, Xenia, Sadleir, Lynette G., Pelekanos, James, Herlenius, Eric, Goldberg-Stern, Hadassa, Bassan, Haim, Haan, Eric, Korczyn, Amos D., Gardner, Alison E., Corbett, Mark A., Gécz, Jozef, Thomas, Paul Q., Mulley, John C., Berkovic, Samuel F., Scheffer, Ingrid E., Dibbens, Leanne M.
Published in American journal of human genetics (13.01.2012)
Published in American journal of human genetics (13.01.2012)
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THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability
Kumar, Raman, Corbett, Mark A., van Bon, Bregje W.M., Woenig, Joshua A., Weir, Lloyd, Douglas, Evelyn, Friend, Kathryn L., Gardner, Alison, Shaw, Marie, Jolly, Lachlan A., Tan, Chuan, Hunter, Matthew F., Hackett, Anna, Field, Michael, Palmer, Elizabeth E., Leffler, Melanie, Rogers, Carolyn, Boyle, Jackie, Bienek, Melanie, Jensen, Corinna, Van Buggenhout, Griet, Van Esch, Hilde, Hoffmann, Katrin, Raynaud, Martine, Zhao, Huiying, Reed, Robin, Hu, Hao, Haas, Stefan A., Haan, Eric, Kalscheuer, Vera M., Gecz, Jozef
Published in American journal of human genetics (06.08.2015)
Published in American journal of human genetics (06.08.2015)
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Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment
Bhattacharjee, Rudrarup, Jolly, Lachlan A., Corbett, Mark A., Wee, Ing Chee, Rao, Sushma R., Gardner, Alison E., Ritchie, Tarin, van Hugte, Eline J. H., Ciptasari, Ummi, Piltz, Sandra, Noll, Jacqueline E., Nazri, Nazzmer, van Eyk, Clare L., White, Melissa, Fornarino, Dani, Poulton, Cathryn, Baynam, Gareth, Collins-Praino, Lyndsey E., Snel, Marten F., Nadif Kasri, Nael, Hemsley, Kim M., Thomas, Paul Q., Kumar, Raman, Gecz, Jozef
Published in Nature communications (08.02.2024)
Published in Nature communications (08.02.2024)
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A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24
Corbett, Mark A., Bahlo, Melanie, Jolly, Lachlan, Afawi, Zaid, Gardner, Alison E., Oliver, Karen L., Tan, Stanley, Coffey, Amy, Mulley, John C., Dibbens, Leanne M., Simri, Walid, Shalata, Adel, Kivity, Sara, Jackson, Graeme D., Berkovic, Samuel F., Gecz, Jozef
Published in American journal of human genetics (10.09.2010)
Published in American journal of human genetics (10.09.2010)
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A Mutation in the Golgi Qb-SNARE Gene GOSR2 Causes Progressive Myoclonus Epilepsy with Early Ataxia
Corbett, Mark A., Schwake, Michael, Bahlo, Melanie, Dibbens, Leanne M., Lin, Meng, Gandolfo, Luke C., Vears, Danya F., O'Sullivan, John D., Robertson, Thomas, Bayly, Marta A., Gardner, Alison E., Vlaar, Annemarie M., Korenke, G. Christoph, Bloem, Bastiaan R., de Coo, Irenaeus F., Verhagen, Judith M.A., Lehesjoki, Anna-Elina, Gecz, Jozef, Berkovic, Samuel F.
Published in American journal of human genetics (13.05.2011)
Published in American journal of human genetics (13.05.2011)
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Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements
Froyen, Guy, Belet, Stefanie, Martinez, Francisco, Santos-Rebouças, Cíntia Barros, Declercq, Matthias, Verbeeck, Jelle, Donckers, Lene, Berland, Siren, Mayo, Sonia, Rosello, Monica, Pimentel, Márcia Mattos Gonçalves, Fintelman-Rodrigues, Natalia, Hovland, Randi, Rodrigues dos Santos, Suely, Raymond, F. Lucy, Bose, Tulika, Corbett, Mark A., Sheffield, Leslie, van Ravenswaaij-Arts, Conny M.A., Dijkhuizen, Trijnie, Coutton, Charles, Satre, Veronique, Siu, Victoria, Marynen, Peter
Published in American journal of human genetics (10.08.2012)
Published in American journal of human genetics (10.08.2012)
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Chromatin-Binding Protein PHF6 Regulates Activity-Dependent Transcriptional Networks to Promote Hunger Response
Gan, Linhua, Sun, Jingjing, Yang, Shuo, Zhang, Xiaocui, Chen, Wu, Sun, Yiyu, Wu, Xiaohua, Cheng, Cheng, Yuan, Jing, Li, Anan, Corbett, Mark A., Dixon, Mathew P., Thomas, Tim, Voss, Anne K., Gécz, Jozef, Wang, Guang-Zhong, Bonni, Azad, Li, Qian, Huang, Ju
Published in Cell reports (Cambridge) (17.03.2020)
Published in Cell reports (Cambridge) (17.03.2020)
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Aicardi Syndrome Is a Genetically Heterogeneous Disorder
Ha, Thuong T, Burgess, Rosemary, Newman, Morgan, Moey, Ching, Mandelstam, Simone A, Gardner, Alison E, Ivancevic, Atma M, Pham, Duyen, Kumar, Raman, Smith, Nicholas, Patel, Chirag, Malone, Stephen, Ryan, Monique M, Calvert, Sophie, van Eyk, Clare L, Lardelli, Michael, Berkovic, Samuel F, Leventer, Richard J, Richards, Linda J, Scheffer, Ingrid E, Gecz, Jozef, Corbett, Mark A
Published in Genes (31.07.2023)
Published in Genes (31.07.2023)
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shRNA off-target effects in vivo: impaired endogenous siRNA expression and spermatogenic defects
Song, Hye-Won, Bettegowda, Anilkumar, Oliver, Daniel, Yan, Wei, Phan, Mimi H, de Rooij, Dirk G, Corbett, Mark A, Wilkinson, Miles F
Published in PloS one (19.03.2015)
Published in PloS one (19.03.2015)
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Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder
Kumar, Raman, Corbett, Mark A., Smith, Nicholas J. C., Hock, Daniella H., Kikhtyak, Zoya, Semcesen, Liana N., Morimoto, Atsushi, Lee, Sangmoon, Stroud, David A., Gleeson, Joseph G., Haan, Eric A., Gecz, Jozef
Published in Npj genomic medicine (28.01.2022)
Published in Npj genomic medicine (28.01.2022)
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Missense variant contribution to USP9X-female syndrome
Jolly, Lachlan A., Parnell, Euan, Gardner, Alison E., Corbett, Mark A., Pérez-Jurado, Luis A., Shaw, Marie, Lesca, Gaetan, Keegan, Catherine, Schneider, Michael C., Griffin, Emily, Maier, Felicitas, Kiss, Courtney, Guerin, Andrea, Crosby, Kathleen, Rosenbaum, Kenneth, Tanpaiboon, Pranoot, Whalen, Sandra, Keren, Boris, McCarrier, Julie, Basel, Donald, Sadedin, Simon, White, Susan M., Delatycki, Martin B., Kleefstra, Tjitske, Küry, Sébastien, Brusco, Alfredo, Sukarova-Angelovska, Elena, Trajkova, Slavica, Yoon, Sehoun, Wood, Stephen A., Piper, Michael, Penzes, Peter, Gecz, Jozef
Published in Npj genomic medicine (09.12.2020)
Published in Npj genomic medicine (09.12.2020)
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Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder
Kumar, Raman, Corbett, Mark A, Smith, Nicholas J C, Jolly, Lachlan A, Tan, Chuan, Keating, Damien J, Duffield, Michael D, Utsumi, Toshihiko, Moriya, Koko, Smith, Katherine R, Hoischen, Alexander, Abbott, Kim, Harbord, Michael G, Compton, Alison G, Woenig, Joshua A, Arts, Peer, Kwint, Michael, Wieskamp, Nienke, Gijsen, Sabine, Veltman, Joris A, Bahlo, Melanie, Gleeson, Joseph G, Haan, Eric, Gecz, Jozef
Published in Human molecular genetics (01.04.2015)
Published in Human molecular genetics (01.04.2015)
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Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families
Bennett, Mark F., Oliver, Karen L., Regan, Brigid M., Bellows, Susannah T., Schneider, Amy L., Rafehi, Haloom, Sikta, Neblina, Crompton, Douglas E., Coleman, Matthew, Hildebrand, Michael S., Corbett, Mark A., Kroes, Thessa, Gecz, Jozef, Scheffer, Ingrid E., Berkovic, Samuel F., Bahlo, Melanie
Published in European journal of human genetics : EJHG (01.07.2020)
Published in European journal of human genetics : EJHG (01.07.2020)
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Large deletions induced by Cas9 cleavage
Adikusuma, Fatwa, Piltz, Sandra, Corbett, Mark A., Turvey, Michelle, McColl, Shaun R., Helbig, Karla J., Beard, Michael R., Hughes, James, Pomerantz, Richard T., Thomas, Paul Q.
Published in Nature (London) (01.08.2018)
Published in Nature (London) (01.08.2018)
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Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions
Corbett, Mark A., Depienne, Christel, Veneziano, Liana, Klein, Karl Martin, Brancati, Francesco, Guerrini, Renzo, Zara, Federico, Tsuji, Shoji, Gecz, Jozef
Published in Epilepsia (Copenhagen) (01.06.2023)
Published in Epilepsia (Copenhagen) (01.06.2023)
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Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3
Florian, Rahel T., Kraft, Florian, Leitão, Elsa, Kaya, Sabine, Klebe, Stephan, Magnin, Eloi, van Rootselaar, Anne-Fleur, Buratti, Julien, Kühnel, Theresa, Schröder, Christopher, Giesselmann, Sebastian, Tschernoster, Nikolai, Altmueller, Janine, Lamiral, Anaide, Keren, Boris, Nava, Caroline, Bouteiller, Delphine, Forlani, Sylvie, Jornea, Ludmila, Kubica, Regina, Ye, Tao, Plassard, Damien, Jost, Bernard, Meyer, Vincent, Deleuze, Jean-François, Delpu, Yannick, Avarello, Mario D. M., Vijfhuizen, Lisanne S., Rudolf, Gabrielle, Hirsch, Edouard, Kroes, Thessa, Reif, Philipp S., Rosenow, Felix, Ganos, Christos, Vidailhet, Marie, Thivard, Lionel, Mathieu, Alexandre, Bourgeron, Thomas, Kurth, Ingo, Rafehi, Haloom, Steenpass, Laura, Horsthemke, Bernhard, LeGuern, Eric, Klein, Karl Martin, Labauge, Pierre, Bennett, Mark F., Bahlo, Melanie, Gecz, Jozef, Corbett, Mark A., Tijssen, Marina A. J., van den Maagdenberg, Arn M. J. M., Depienne, Christel
Published in Nature communications (29.10.2019)
Published in Nature communications (29.10.2019)
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