Jamra, Rami Abou

The DISC locus and schizophrenia: evidence from an association study in a central European sample and from a meta-analysis across different European populations

Schumacher, J., Laje, G., Jamra, R. A., Becker, T., Mühleisen, T. W., Vasilescu, C., Mattheisen, M., Herms, S., Hoffmann, P., Hillmer, A. M., et al. (2009) · Human Molecular Genetics

Schizophrenia research and treatmentGenetic Associations and Epidemiology

Cited by 86

Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch‐up Development

Platzer, K., Cogné, B., Hague, J., Marcelis, C. L., Mitter, D., Oberndorff, K., Park, S., Ploos van Amstel, H. K., Simonic, I., van der Smagt, J. J., et al. (2018) · Annals of Neurology

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 29

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology

Oppermann, H., Marcos-Grañeda, E., Weiss, L. A., Gurnett, C. A., Jelsig, A. M., Vineke, S. H., Isidor, B., Mercier, S., Magnussen, K., Zacher, P., et al. (2023) · European Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 18

Novel EXOSC3 pathogenic variant results in a mild course of neurologic disease with cerebellum involvement

Le Duc, D., Horn, S., Jamra, R. A., Schaper, J., Wieczorek, D., & Redler, S. (2020) · European Journal of Medical Genetics

Genetics and Neurodevelopmental DisordersFetal and Pediatric Neurological Disorders

Cited by 16

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Küry, S., Stanton, J. E., van Woerden, G., Hsieh, T.-C., Rosenfelt, C., Scott-Boyer, M. P., Most, V., Wang, T., Papendorf, J. J., de Konink, C., et al. (2024) · medRxiv

Genetics and Neurodevelopmental DisordersUbiquitin and proteasome pathways

Cited by 6