Maria Caracausi
University of Bologna(IT)
Publications by Year
Research Areas
Down syndrome and intellectual disability research, RNA modifications and cancer, Genomic variations and chromosomal abnormalities, Epigenetics and DNA Methylation, Prenatal Screening and Diagnostics
Most-Cited Works
- → On the length, weight and GC content of the human genome(2019)291 cited
- → Human protein-coding genes and gene feature statistics in 2019(2019)188 cited
- → GeneBase 1.1: a tool to summarize data from NCBI gene datasets and its application to an update of human gene statistics(2016)110 cited
- → Systematic identification of human housekeeping genes possibly useful as references in gene expression studies(2017)94 cited
- → Plasma and urinary metabolomic profiles of Down syndrome correlate with alteration of mitochondrial metabolism(2018)86 cited
- → Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype(2016)83 cited
- → Integrated Quantitative Transcriptome Maps of Human Trisomy 21 Tissues and Cells(2018)67 cited
- → Identification of minimal eukaryotic introns through GeneBase, a user-friendly tool for parsing the NCBI Gene databank(2015)60 cited
- → Cognitive profiles in children and adolescents with Down syndrome(2022)46 cited
- → Genotype-phenotype correlation for congenital heart disease in Down syndrome through analysis of partial trisomy 21 cases(2017)42 cited