Elisabeth Gabau
Universitat Autònoma de Barcelona(ES)Corporació Sanitària Parc Taulí(ES)Institute of Research and Innovation Parc Tauli(ES)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genetic Syndromes and Imprinting, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Epigenetics and DNA Methylation
Most-Cited Works
- → Chromosome 21 Disomy in the Spermatozoa of the Fathers of Children with Trisomy 21, in a Population with a High Prevalence of Down Syndrome: Increased Incidence in Cases of Paternal Origin(1998)159 cited
- → Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders(2015)134 cited
- → Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome(2006)91 cited
- → Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia(2009)87 cited
- → De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay(2020)54 cited
- → Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals(2022)