Ági K. Gedeon

Publications by Year

Research Areas

Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Autism Spectrum Disorder Research, RNA modifications and cancer, Ubiquitin and proteasome pathways

Most-Cited Works

• → A novel X-linked gene, G4.5. is responsible for Barth syndrome(1996)749 cited
• → Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy(2002)431 cited
• → Identification of the gene FMR2, associated with FRAXE mental retardation(1996)357 cited
• → Mutations in GDI1 are responsible for X-linked non-specific mental retardation(1998)333 cited
• → The X-Linked Gene G4.5 Is Responsible for Different Infantile Dilated Cardiomyopathies(1997)232 cited
• → Fragile X syndrome without CCG amplification has an FMR1 deletion(1992)218 cited
• → Mutations in PHF6 are associated with Börjeson–Forssman –Lehmann syndrome(2002)216 cited
• Fragile-X syndrome: unique genetics of the heritable unstable element.(1992)
• → Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda(1999)187 cited
• → FRAXE and mental retardation.(1995)135 cited