Marcia M. Nizzari
Claritas Genomics (United States)(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetic Associations and Epidemiology, Genomic variations and chromosomal abnormalities, Genomics and Phylogenetic Studies, Cystic Fibrosis Research Advances
Most-Cited Works
- → Genome-Wide Association Analysis Identifies Loci for Type 2 Diabetes and Triglyceride Levels(2007)2,886 cited
- → SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap(2008)1,356 cited
- → Integrated detection and population-genetic analysis of SNPs and copy number variation(2008)941 cited
- → Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs(2008)809 cited
- → Candidate Gene Association Resource (CARe)(2010)144 cited
- → Next-generation carrier screening(2013)46 cited
- → Orthogonal NGS for High Throughput Clinical Diagnostics(2016)15 cited
- → Carrier Screening for Cystic Fibrosis among IVF Patients Utilizing Next Generation DNA Sequencing Detects Common, Rare, and Otherwise Undetectable Mutations(2013)
- → Carrier Screening of 4,200 IVF Patients Utilizing Next Generation DNA Sequencing Detects Common, Rare, and Otherwise Undetectable Mutations across Several Diseases(2013)