Discovery of autism/intellectual disability somatic mutations in Alzheimer's brains: mutated ADNP cytoskeletal impairments and repair as a case study
Ivashko-Pachima, Yanina, Hadar, Adva, Grigg, Iris, Korenková, Vlasta, Kapitansky, Oxana, Karmon, Gidon, Gershovits, Michael, Sayas, C. Laura, Kooy, R. Frank, Attems, Johannes, Gurwitz, David, Gozes, Illana
Published in Molecular psychiatry (01.05.2021)
Published in Molecular psychiatry (01.05.2021)
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Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease
Annear, Dale J., Vandeweyer, Geert, Elinck, Ellen, Sanchis-Juan, Alba, French, Courtney E., Raymond, Lucy, Kooy, R. Frank
Published in Scientific reports (28.01.2021)
Published in Scientific reports (28.01.2021)
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De novo mutations, genetic mosaicism and human disease
Mohiuddin, Mohiuddin, Kooy, R. Frank, Pearson, Christopher E.
Published in Frontiers in genetics (26.09.2022)
Published in Frontiers in genetics (26.09.2022)
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A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions
Garg, Paras, Jadhav, Bharati, Rodriguez, Oscar L., Patel, Nihir, Martin-Trujillo, Alejandro, Jain, Miten, Metsu, Sofie, Olsen, Hugh, Paten, Benedict, Ritz, Beate, Kooy, R. Frank, Gecz, Jozef, Sharp, Andrew J.
Published in American journal of human genetics (01.10.2020)
Published in American journal of human genetics (01.10.2020)
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Impaired GABAergic inhibition in the hippocampus of Fmr1 knockout mice
Sabanov, Victor, Braat, Sien, D'Andrea, Laura, Willemsen, Rob, Zeidler, Shimriet, Rooms, Liesbeth, Bagni, Claudia, Kooy, R. Frank, Balschun, Detlef
Published in Neuropharmacology (01.04.2017)
Published in Neuropharmacology (01.04.2017)
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Tauopathy in the young autistic brain: novel biomarker and therapeutic target
Grigg, Iris, Ivashko-Pachima, Yanina, Hait, Tom Aharon, Korenková, Vlasta, Touloumi, Olga, Lagoudaki, Roza, Van Dijck, Anke, Marusic, Zlatko, Anicic, Mirna, Vukovic, Jurica, Kooy, R. Frank, Grigoriadis, Nikolaos, Gozes, Illana
Published in Translational psychiatry (13.07.2020)
Published in Translational psychiatry (13.07.2020)
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Positron Emission Tomography (PET) Quantification of GABAA Receptors in the Brain of Fragile X Patients
D'Hulst, Charlotte, Heulens, Inge, Van der Aa, Nathalie, Goffin, Karolien, Koole, Michel, Porke, Kathleen, Van De Velde, Marc, Rooms, Liesbeth, Van Paesschen, Wim, Van Esch, Hilde, Van Laere, Koen, Kooy, R Frank
Published in PloS one (29.07.2015)
Published in PloS one (29.07.2015)
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Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis
Ramos-Brossier, Mariana, Montani, Caterina, Lebrun, Nicolas, Gritti, Laura, Martin, Christelle, Seminatore-Nole, Christine, Toussaint, Aurelie, Moreno, Sarah, Poirier, Karine, Dorseuil, Olivier, Chelly, Jamel, Hackett, Anna, Gecz, Jozef, Bieth, Eric, Faudet, Anne, Heron, Delphine, Frank Kooy, R, Loeys, Bart, Humeau, Yann, Sala, Carlo, Billuart, Pierre
Published in Human molecular genetics (15.02.2015)
Published in Human molecular genetics (15.02.2015)
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Tracing the invisible mutant ADNP protein in Helsmoortel-Van der Aa syndrome patients
D’Incal, Claudio Peter, Cappuyns, Elisa, Choukri, Kaoutar, De Man, Kevin, Szrama, Kristy, Konings, Anthony, Bastini, Lina, Van Meel, Kim, Buys, Amber, Gabriele, Michele, Rizzuti, Ludovico, Vitriolo, Alessandro, Testa, Giuseppe, Mohn, Fabio, Bühler, Marc, Van der Aa, Nathalie, Van Dijck, Anke, Kooy, R. Frank, Berghe, Wim Vanden
Published in Scientific reports (26.06.2024)
Published in Scientific reports (26.06.2024)
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Differential effect of panic on the DNA methylation of the glucocorticoid receptor gene exon 1F in chronic subjective tinnitus with distress
Fransen, Erik, Cassiers, Laura L M, Chubar, Viktoriia, Gilles, Annick, Van Rompaey, Vincent, van der Werf, Ilse, Van de Heyning, Paul, Claes, Stephan, Sabbe, Bernard, Kooy, R Frank, Van Den Eede, Filip
Published in Psychiatric genetics (01.08.2023)
Published in Psychiatric genetics (01.08.2023)
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Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism
D'Incal, Claudio Peter, Van Rossem, Kirsten Esther, De Man, Kevin, Konings, Anthony, Van Dijck, Anke, Rizzuti, Ludovico, Vitriolo, Alessandro, Testa, Giuseppe, Gozes, Illana, Vanden Berghe, Wim, Kooy, R Frank
Published in Clinical epigenetics (21.03.2023)
Published in Clinical epigenetics (21.03.2023)
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A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype
Beunders, Gea, van de Kamp, Jiddeke, Vasudevan, Pradeep, Morton, Jenny, Smets, Katrien, Kleefstra, Tjitske, de Munnik, Sonja A, Schuurs-Hoeijmakers, Janneke, Ceulemans, Berten, Zollino, Marcella, Hoffjan, Sabine, Wieczorek, Stefan, So, Joyce, Mercer, Leanne, Walker, Tanya, Velsher, Lea, Parker, Michael J, Magee, Alex C, Elffers, Bart, Kooy, R Frank, Yntema, Helger G, Meijers-Heijboer, Elizabeth J, Sistermans, Erik A
Published in Journal of medical genetics (01.08.2016)
Published in Journal of medical genetics (01.08.2016)
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