Jozef Gécz
South Australian Health and Medical Research Institute(AU)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, RNA modifications and cancer, Ubiquitin and proteasome pathways
Most-Cited Works
- → Refining analyses of copy number variation identifies specific genes associated with developmental delay(2014)744 cited
- → A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay(2010)671 cited
- → Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males(2005)624 cited
- → A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation(2009)614 cited
- → Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases(2017)571 cited
- → Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation(2004)498 cited
- → X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment