Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy
de Nys, Rebekah, van Eyk, Clare L, Ritchie, Tarin, Møller, Rikke S, Scheffer, Ingrid E, Marini, Carla, Bhattacharjee, Rudrarup, Kumar, Raman, Gecz, Jozef
Published in Translational psychiatry (27.01.2024)
Published in Translational psychiatry (27.01.2024)
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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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Non-self mutation: double-stranded RNA elicits antiviral pathogenic response in a Drosophila model of expanded CAG repeat neurodegenerative diseases
van Eyk, Clare L, Samaraweera, Saumya E, Scott, Andrew, Webber, Dani L, Harvey, David P, Mecinger, Olivia, O'Keefe, Louise V, Cropley, Jennifer E, Young, Paul, Ho, Joshua, Suter, Catherine, Richards, Robert I
Published in Human molecular genetics (15.09.2019)
Published in Human molecular genetics (15.09.2019)
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Ubiquitous expression of CUG or CAG trinucleotide repeat RNA causes common morphological defects in a Drosophila model of RNA-mediated pathology
Lawlor, Kynan T, O'Keefe, Louise V, Samaraweera, Saumya E, van Eyk, Clare L, Richards, Robert I
Published in PloS one (08.06.2012)
Published in PloS one (08.06.2012)
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Journal Article
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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Application of multiple mosaic callers improves post-zygotic mutation detection from exome sequencing data
Sandran, Nandini G., Fornarino, Dani L., Corbett, Mark A., Kroes, Thessa, Gardner, Alison E., MacLennan, Alastair H., Gécz, Jozef, van Eyk, Clare L.
Published in Genetics in medicine (01.10.2024)
Published in Genetics in medicine (01.10.2024)
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Definition and diagnosis of cerebral palsy in genetic studies: a systematic review
Pham, Ryan, Mol, Ben W, Gecz, Jozef, MacLennan, Alastair H, MacLennan, Suzanna C, Corbett, Mark A, Eyk, Clare L, Webber, Dani L, Palmer, Lyle J, Berry, Jesia G
Published in Developmental medicine and child neurology (01.09.2020)
Published in Developmental medicine and child neurology (01.09.2020)
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RNA variant assessment using transactivation and transdifferentiation
Nicolas-Martinez, Emmylou C., Robinson, Olivia, Pflueger, Christian, Gardner, Alison, Corbett, Mark A., Ritchie, Tarin, Kroes, Thessa, van Eyk, Clare L., Scheffer, Ingrid E., Hildebrand, Michael S., Barnier, Jean-Vianney, Rousseau, Véronique, Genevieve, David, Haushalter, Virginie, Piton, Amélie, Denommé-Pichon, Anne-Sophie, Bruel, Ange-Line, Nambot, Sophie, Isidor, Bertrand, Grigg, John, Gonzalez, Tina, Ghedia, Sondhya, Marchant, Rhett G., Bournazos, Adam, Wong, Wui-Kwan, Webster, Richard I., Evesson, Frances J., Jones, Kristi J., Azmanov, Dimitar N., Barnett, Christopher P., Barry, Simon C., Baynam, Gareth, Berkovic, Samuel F., Christodoulou, John, Coman, David J., Cooper, Sandra, Corbett, Mark A., Delatycki, Martin, Dudding, Tracy E., Fletcher, Sue, Gardner, Alison E., Gecz, Jozef, Higgins, Megan J., Hildebrand, Michael S., Jolly, Lachlan A., Lister, Ryan, McGaughran, Julie, Pflueger, Christian, Poulton, Cathryn, Roscioli, Tony, Hamish S. Scott, Ingrid Scheffer, Sinclair, Andrew H., Spurdle, Amanda B., Tan, Tiong Y., van Eyk, Clare L., Voineagu, Irina, Cooper, Sandra T., Lister, Ryan, Gecz, Jozef, Jolly, Lachlan A.
Published in American journal of human genetics (08.08.2024)
Published in American journal of human genetics (08.08.2024)
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Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity
Kurolap, Alina, Kreuder, Florian, Gonzaga-Jauregui, Claudia, Duvdevani, Morasha Plesser, Harel, Tamar, Tammer, Luna, Xin, Baozhong, Bakhtiari, Somayeh, Rice, James, van Eyk, Clare L., Gecz, Jozef, Mah, Jean K., Atkinson, Derek, Cope, Heidi, Sullivan, Jennifer A., Douek, Alon M., Colquhoun, Daniel, Henry, Jason, Wlodkowic, Donald, Parman, Yesim, Candayan, Ayşe, Kocasoy-Orhan, Elif, Ilivitzki, Anat, Soudry, Shiri, Leibu, Rina, Glaser, Fabian, Sency, Valerie, Ast, Gil, Shashi, Vandana, Fahey, Michael C., Battaloğlu, Esra, Jordanova, Albena, Meiner, Vardiella, Innes, A. Micheil, Wang, Heng, Elpeleg, Orly, Kruer, Michael C., Kaslin, Jan, Baris Feldman, Hagit
Published in American journal of human genetics (03.03.2022)
Published in American journal of human genetics (03.03.2022)
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Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly
Herbst, Charlotte, Bothe, Viktoria, Wegler, Meret, Axer-Schaefer, Susanne, Audebert-Bellanger, Séverine, Gecz, Jozef, Cogne, Benjamin, Feldman, Hagit Baris, Horn, Anselm H. C., Hurst, Anna C. E., Kelly, Melissa A., Kruer, Michael C., Kurolap, Alina, Laquerriere, Annie, Li, Megan, Mark, Paul R., Morawski, Markus, Nizon, Mathilde, Pastinen, Tomi, Polster, Tilman, Saugier-Veber, Pascale, SeSong, Jang, Sticht, Heinrich, Stieler, Jens T., Thifffault, Isabelle, van Eyk, Clare L., Marcorelles, Pascale, Vezain-Mouchard, Myriam, Abou Jamra, Rami, Oppermann, Henry
Published in Human genetics (01.03.2024)
Published in Human genetics (01.03.2024)
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Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism
van Eyk, Clare L, Corbett, Mark A, Gardner, Alison, van Bon, Bregje W, Broadbent, Jessica L, Harper, Kelly, MacLennan, Alastair H, Gecz, Jozef
Published in Translational psychiatry (23.04.2018)
Published in Translational psychiatry (23.04.2018)
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Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy
Corbett, Mark A, van Eyk, Clare L, Webber, Dani L, Bent, Stephen J, Newman, Morgan, Harper, Kelly, Berry, Jesia G, Azmanov, Dimitar N, Woodward, Karen J, Gardner, Alison E, Slee, Jennie, Pérez-Jurado, Luís A, MacLennan, Alastair H, Gecz, Jozef
Published in Npj genomic medicine (14.12.2018)
Published in Npj genomic medicine (14.12.2018)
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Journal Article
Double-stranded RNA is pathogenic in Drosophila models of expanded repeat neurodegenerative diseases
Lawlor, Kynan T., O'Keefe, Louise V., Samaraweera, Saumya E., van Eyk, Clare L., McLeod, Catherine J., Maloney, Christopher A., Dang, Thurston H.Y., Suter, Catherine M., Richards, Robert I.
Published in Human molecular genetics (01.10.2011)
Published in Human molecular genetics (01.10.2011)
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Perturbation of the Akt/Gsk3-β signalling pathway is common to Drosophila expressing expanded untranslated CAG, CUG and AUUCU repeat RNAs
van Eyk, Clare L., O'Keefe, Louise V., Lawlor, Kynan T., Samaraweera, Saumya E., McLeod, Catherine J., Price, Gareth R., Venter, Deon J., Richards, Robert I.
Published in Human molecular genetics (15.07.2011)
Published in Human molecular genetics (15.07.2011)
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Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy
Corbett, Mark A., van Eyk, Clare L., Webber, Dani L., Bent, Stephen J., Newman, Morgan, Harper, Kelly, Berry, Jesia G., Azmanov, Dimitar N., Woodward, Karen J., Gardner, Alison E., Slee, Jennie, Pérez-Jurado, Luís A., MacLennan, Alastair H., Gecz, Jozef
Published in Npj genomic medicine (31.05.2019)
Published in Npj genomic medicine (31.05.2019)
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Journal Article
Dynamic mutations: where are they now?
van Eyk, Clare L, Richards, Robert I
Published in Advances in experimental medicine and biology (01.01.2012)
Published in Advances in experimental medicine and biology (01.01.2012)
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All Patients With a Cerebral Palsy Diagnosis Merit Genomic Sequencing
van Eyk, Clare, MacLennan, Suzanna C, MacLennan, Alastair H
Published in JAMA pediatrics (01.05.2023)
Published in JAMA pediatrics (01.05.2023)
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