Kooy, R. Frank

Fragile X syndrome

Hagerman, R. J., Berry-Kravis, E., Hazlett, H. C., Bailey, D. B., Moine, H., Kooy, R. F., Tassone, F., Gantois, I., Sonenberg, N., Mandel, J. L., et al. (2017) · Nature Reviews Disease Primers

Genetics and Neurodevelopmental DisordersGenetic Neurodegenerative Diseases

Cited by 838

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Stessman, H. A. F., Xiong, B., Coe, B. P., Wang, T., Hoekzema, K., Fenckova, M., Kvarnung, M., Gerdts, J., Trinh, S., Cosemans, N., et al. (2017) · Nature Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 559

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

Walters, R. G., Jacquemont, S., Valsesia, A., de Smith, A. J., Martinet, D., Andersson, J., Falchi, M., Chen, F., Andrieux, J., Lobbens, S., et al. (2010) · Nature

Genomic variations and chromosomal abnormalitiesGenetic Associations and Epidemiology

Cited by 543

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

Helsmoortel, C., Vulto-van Silfhout, A. T., Coe, B. P., Vandeweyer, G., Rooms, L., van den Ende, J., Schuurs-Hoeijmakers, J. H. M., Marcelis, C. L., Willemsen, M. H., Vissers, L. E. L. M., et al. (2014) · Nature Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 354

Decreased expression of the GABAA receptor in fragile X syndrome

D'Hulst, C., De Geest, N., Reeve, S. P., Van Dam, D., De Deyn, P. P., Hassan, B. A., & Kooy, R. F. (2006) · Brain Research

Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology Research

Cited by 318

The GABAA Receptor as a Therapeutic Target for Neurodevelopmental Disorders

Braat, S., & Kooy, R. F. (2015) · Neuron

Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology Research

Cited by 294

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

Van der Aa, N., Rooms, L., Vandeweyer, G., van den Ende, J., Reyniers, E., Fichera, M., Romano, C., Delle Chiaie, B., Mortier, G., Menten, B., et al. (2009) · European Journal of Medical Genetics

Williams Syndrome ResearchGenomic variations and chromosomal abnormalities

Cited by 216

Mildly impaired water maze performance in maleFmr1 knockout mice

D'Hooge, R., Nagels, G., Franck, F., Bakker, C. E., Reyniers, E., Storm, K., Kooy, R. F., Oostra, B. A., Willems, P. J., & De Deyn, P. P. (1997) · Neuroscience

Genetics and Neurodevelopmental DisordersMemory and Neural Mechanisms

Cited by 208

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Pizzo, L., Jensen, M., Polyak, A., Rosenfeld, J. A., Mannik, K., Krishnan, A., McCready, E., Pichon, O., Le Caignec, C., Van Dijck, A., et al. (2019) · Genetics in Medicine

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 193

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

2p15 Consortium, Loviglio, M. N., 16p11.2 Consortium, Leleu, M., Männik, K., Passeggeri, M., Giannuzzi, G., van der Werf, I., Waszak, S. M., Zazhytska, M., et al. (2017) · Molecular Psychiatry

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 118

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

Ivashko-Pachima, Y., Hadar, A., Grigg, I., Korenková, V., Kapitansky, O., Karmon, G., Gershovits, M., Sayas, C. L., Kooy, R. F., Attems, J., et al. (2021) · Molecular Psychiatry

Alzheimer's disease research and treatmentsGenetics and Neurodevelopmental Disorders

Cited by 107

The translational regulator FMRP controls lipid and glucose metabolism in mice and humans

Leboucher, A., Pisani, D. F., Martinez-Gili, L., Chilloux, J., Bermudez-Martin, P., Van Dijck, A., Ganief, T., Macek, B., Becker, J. A. J., Le Merrer, J., et al. (2019) · Molecular Metabolism

Genetics and Neurodevelopmental DisordersMetabolism, Diabetes, and Cancer

Cited by 56

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

D’Incal, C., Broos, J., Torfs, T., Kooy, R. F., & Vanden Berghe, W. (2022) · Cells

Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology Research

Cited by 29

GABAergic abnormalities in the fragile X syndrome.

Van der Aa, N., & Kooy, R. F. (2020) · European Journal of Paediatric Neurology

Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology Research

Cited by 26