Gécz, Jozef

Refining analyses of copy number variation identifies specific genes associated with developmental delay

Coe, B. P., Witherspoon, K., Rosenfeld, J. A., van Bon, B. W. M., Vulto-van Silfhout, A. T., Bosco, P., Friend, K. L., Baker, C., Buono, S., Vissers, L. E. L. M., et al. (2014) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 720

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Girirajan, S., Rosenfeld, J. A., Cooper, G. M., Antonacci, F., Siswara, P., Itsara, A., Vives, L., Walsh, T., McCarthy, S. E., Baker, C., et al. (2010) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 667

Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation

Jensen, L. R., Amende, M., Gurok, U., Moser, B., Gimmel, V., Tzschach, A., Janecke, A. R., Tariverdian, G., Chelly, J., Fryns, J.-P., et al. (2005) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Cited by 373

The genetic landscape of intellectual disability arising from chromosome X

Gécz, J., Shoubridge, C., & Corbett, M. (2009) · Trends in Genetics

Genetics and Neurodevelopmental DisordersDown syndrome and intellectual disability research

Cited by 207

A ubiquitin-dependent signalling axis specific for ALKBH-mediated DNA dealkylation repair

Brickner, J. R., Soll, J. M., Lombardi, P. M., Vågbø, C. B., Mudge, M. C., Oyeniran, C., Rabe, R., Jackson, J., Sullender, M. E., Blazosky, E., et al. (2017) · Nature

DNA Repair MechanismsUbiquitin and proteasome pathways

Cited by 112