Giuseppe Narzisi
New York Genome Center(US)
Publications by Year
Research Areas
Genomics and Phylogenetic Studies, Genomics and Rare Diseases, Cancer Genomics and Diagnostics, RNA and protein synthesis mechanisms, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → The contribution of de novo coding mutations to autism spectrum disorder(2014)2,750 cited
- → De Novo Gene Disruptions in Children on the Autistic Spectrum(2012)1,510 cited
- → High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios(2022)977 cited
- → Genome of the long-living sacred lotus (Nelumbo nucifera Gaertn.)(2013)427 cited
- → Detection of long repeat expansions from PCR-free whole-genome sequence data(2017)425 cited
- → ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions(2019)384 cited
- → High coverage whole genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios(2021)259 cited
- → Curated variation benchmarks for challenging medically relevant autosomal genes(2022)243 cited
- → Accurate de novo and transmitted indel detection in exome-capture data using microassembly(2014)234 cited
- → ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data(2020)219 cited