PubRank

Francesca Antonacci

Author PubWeight™ 86.45‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mapping and sequencing of structural variation from eight human genomes. Nature 2008 30.28
2 Personalized copy number and segmental duplication maps using next-generation sequencing. Nat Genet 2009 11.73
3 Diversity of human copy number variation and multicopy genes. Science 2010 8.97
4 A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet 2010 6.62
5 Characterization of missing human genome sequences and copy-number polymorphic insertions. Nat Methods 2010 5.44
6 Evolutionary toggling of the MAPT 17q21.31 inversion region. Nat Genet 2008 3.42
7 Reconstructing complex regions of genomes using long-read sequencing technology. Genome Res 2014 2.63
8 Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication. Cell 2012 2.43
9 Death and resurrection of the human IRGM gene. PLoS Genet 2009 1.72
10 Evolutionary formation of new centromeres in macaque. Science 2007 1.67
11 Structural diversity and African origin of the 17q21.31 inversion polymorphism. Nat Genet 2012 1.62
12 Programmed loss of millions of base pairs from a vertebrate genome. Proc Natl Acad Sci U S A 2009 1.58
13 Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. Arch Neurol 2012 1.46
14 Evolution and diversity of copy number variation in the great ape lineage. Genome Res 2013 1.29
15 Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis. Am J Med Genet A 2010 1.19
16 Genome-wide characterization of centromeric satellites from multiple mammalian genomes. Genome Res 2010 1.12
17 Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions. Nat Methods 2013 0.96
18 Identification of a novel recurrent 1q42.2-1qter deletion in high risk MYCN single copy 11q deleted neuroblastomas. Int J Cancer 2011 0.92
19 Unusual 8p inverted duplication deletion with telomere capture from 8q. Eur J Med Genet 2008 0.91
20 Identification of 2 putative critical segments of 17q gain in neuroblastoma through integrative genomics. Int J Cancer 2008 0.85
21 Lineage-specific evolution of the vertebrate Otopetrin gene family revealed by comparative genomic analyses. BMC Evol Biol 2011 0.79
22 Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility. Nature 2016 0.77
23 Hominoid fission of chromosome 14/15 and the role of segmental duplications. Genome Res 2013 0.77