about
Death and resurrection of the human IRGM geneResolving the complexity of the human genome using single-molecule sequencingMapping and sequencing of structural variation from eight human genomesDiversity of human copy number variation and multicopy genesEvolution of human-specific neural SRGAP2 genes by incomplete segmental duplicationEvolutionary toggling of the MAPT 17q21.31 inversion regionGenome-wide characterization of centromeric satellites from multiple mammalian genomesAutosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.Personalized copy number and segmental duplication maps using next-generation sequencing.A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.Lineage-specific evolution of the vertebrate Otopetrin gene family revealed by comparative genomic analysesCharacterization of missing human genome sequences and copy-number polymorphic insertionsA large and complex structural polymorphism at 16p12.1 underlies microdeletion disease riskStructural diversity and African origin of the 17q21.31 inversion polymorphism.Evolution and diversity of copy number variation in the great ape lineageCharacterization of six human disease-associated inversion polymorphismsProgrammed loss of millions of base pairs from a vertebrate genomeUnusual 8p inverted duplication deletion with telomere capture from 8q.Reconstructing complex regions of genomes using long-read sequencing technology.Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions.Identification of a novel recurrent 1q42.2-1qter deletion in high risk MYCN single copy 11q deleted neuroblastomas.New insights into centromere organization and evolution from the white-cheeked gibbon and marmoset.Hominoid fission of chromosome 14/15 and the role of segmental duplications.Identification of 2 putative critical segments of 17q gain in neuroblastoma through integrative genomics.Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis.Mapping of 5q35 chromosomal rearrangements within a genomically unstable region.Evolutionary Formation of New Centromeres in MacaqueGenomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locusRecurrent inversion toggling and great ape genome evolution
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description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Francesca Antonacci
@ast
Francesca Antonacci
@en
Francesca Antonacci
@es
Francesca Antonacci
@fr
Francesca Antonacci
@nl
Francesca Antonacci
@sl
type
label
Francesca Antonacci
@ast
Francesca Antonacci
@en
Francesca Antonacci
@es
Francesca Antonacci
@fr
Francesca Antonacci
@nl
Francesca Antonacci
@sl
prefLabel
Francesca Antonacci
@ast
Francesca Antonacci
@en
Francesca Antonacci
@es
Francesca Antonacci
@fr
Francesca Antonacci
@nl
Francesca Antonacci
@sl
P1053
F-5457-2013
P106
P21
P31
P3829
P496
0000-0002-5833-6186