Distinct disorders affecting the brain share common genetic origins

por Kooy, R Frank
Publicado 2010

Targeting fragile X

por Gantois, Ilse, Kooy, R Frank
Publicado 2002

Mouse models of fragile X-related disorders

por Willemsen, Rob, Kooy, R. Frank
Publicado 2023

Metabonomics adds a new dimension to fragile X syndrome

por Heulens, Inge, Braat, Sien, Kooy, R Frank
Publicado 2011

On the spot: very local chromosomal rearrangements

por Helsmoortel, Céline, Vandeweyer, Geert, Kooy, R. Frank
Publicado 2012

De novo mutations, genetic mosaicism and human disease

por Mohiuddin, Mohiuddin, Kooy, R. Frank, Pearson, Christopher E.
Publicado 2022

A Robust Protocol to Increase NimbleGen SeqCap EZ Multiplexing Capacity to 96 Samples

por van der Werf, Ilse M., Kooy, R. Frank, Vandeweyer, Geert
Publicado 2015

CNV-WebStore: Online CNV Analysis, Storage and Interpretation

por Vandeweyer, Geert, Reyniers, Edwin, Wuyts, Wim, Rooms, Liesbeth, Kooy, R Frank
Publicado 2011

Involvement and Therapeutic Potential of the GABAergic System in the Fragile X Syndrome

por Heulens, Inge, D'Hulst, Charlotte, Braat, Sien, Rooms, Liesbeth, Kooy, R. Frank
Publicado 2010

Towards Kinase Inhibitor Therapies for Fragile X Syndrome: Tweaking Twists in the Autism Spectrum Kinase Signaling Network

por D’Incal, Claudio, Broos, Jitse, Torfs, Thierry, Kooy, R. Frank, Vanden Berghe, Wim
Publicado 2022

VariantDB: a flexible annotation and filtering portal for next generation sequencing data

por Vandeweyer, Geert, Van Laer, Lut, Loeys, Bart, Van den Bulcke, Tim, Kooy, R Frank
Publicado 2014

Expanding the Phenotype of B3GALNT2-Related Disorders

por D’haenens, Erika, Vergult, Sarah, Menten, Björn, Dheedene, Annelies, Kooy, R. Frank, Callewaert, Bert
Publicado 2022

Non-Mendelian inheritance patterns and extreme deviation rates of CGG repeats in autism

por Annear, Dale J., Vandeweyer, Geert, Sanchis-Juan, Alba, Raymond, F. Lucy, Kooy, R. Frank
Publicado 2022

Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease

por Annear, Dale J., Vandeweyer, Geert, Elinck, Ellen, Sanchis-Juan, Alba, French, Courtney E., Raymond, Lucy, Kooy, R. Frank
Publicado 2021

The Eight and a Half Year Journey of Undiagnosed AD: Gene Sequencing and Funding of Advanced Genetic Testing Has Led to Hope and New Beginnings

por Gozes, Illana, Patterson, Marc C., Van Dijck, Anke, Kooy, R. Frank, Peeden, Joseph N., Eichenberger, Jacob A., Zawacki-Downing, Angela, Bedrosian-Sermone, Sandra
Publicado 2017

Reduced serum levels of pro-inflammatory chemokines in fragile X syndrome

por Van Dijck, Anke, Barbosa, Susana, Bermudez-Martin, Patricia, Khalfallah, Olfa, Gilet, Cyprien, Martinuzzi, Emanuela, Elinck, Ellen, Kooy, R. Frank, Glaichenhaus, Nicolas, Davidovic, Laetitia
Publicado 2020

Discovery of autism/intellectual disability somatic mutations in Alzheimer's brains: mutated ADNP cytoskeletal impairments and repair as a case study

por 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
Publicado 2019

Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism

por 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
Publicado 2023

A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome

por Ligsay, Andrew, Van Dijck, Anke, Nguyen, Danh V., Lozano, Reymundo, Chen, Yanjun, Bickel, Erika S., Hessl, David, Schneider, Andrea, Angkustsiri, Kathleen, Tassone, Flora, Ceulemans, Berten, Kooy, R. Frank, Hagerman, Randi J.
Publicado 2017

Tauopathy in the young autistic brain: novel biomarker and therapeutic target

por 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
Publicado 2020