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List of works by Francesca Antonacci

A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk

scientific article

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

scientific article

Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.

scientific article

Characterization of missing human genome sequences and copy-number polymorphic insertions

scientific article

Characterization of six human disease-associated inversion polymorphisms

scientific article published on 21 April 2009

Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis

scientific article published in September 2010

Cytogenetic and Array-CGH Characterization of a Simple Case of Reciprocal t(3;10) Translocation Reveals a Hidden Deletion at 5q12

scientific article published on 07 June 2021

Death and resurrection of the human IRGM gene

scientific article published in March 2009

Diversity of human copy number variation and multicopy genes

scientific article

Evolution and diversity of copy number variation in the great ape lineage

scientific article published on 03 July 2013

Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication

scientific article

Evolutionary Formation of New Centromeres in Macaque

scientific article published in Science

Evolutionary toggling of the MAPT 17q21.31 inversion region

scientific article

Genome-wide characterization of centromeric satellites from multiple mammalian genomes

scientific article (publication date: 2011)

Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus

scientific article published on 27 March 2019

Hominoid fission of chromosome 14/15 and the role of segmental duplications.

scientific article published on 27 September 2013

Identification of 2 putative critical segments of 17q gain in neuroblastoma through integrative genomics

scientific article published in March 2008

Identification of a novel recurrent 1q42.2-1qter deletion in high risk MYCN single copy 11q deleted neuroblastomas

scientific article

Lineage-specific evolution of the vertebrate Otopetrin gene family revealed by comparative genomic analyses

scientific article

Mapping and sequencing of structural variation from eight human genomes

scientific article

Mapping of 5q35 chromosomal rearrangements within a genomically unstable region.

scientific article

New insights into centromere organization and evolution from the white-cheeked gibbon and marmoset

scientific article

Personalized copy number and segmental duplication maps using next-generation sequencing.

scientific article

Programmed loss of millions of base pairs from a vertebrate genome

scholarly article

Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions

scientific article published on 28 July 2013

Reconstructing complex regions of genomes using long-read sequencing technology

scientific article published on 13 January 2014

Recurrent inversion toggling and great ape genome evolution

scientific article published on 15 June 2020

Resolving the complexity of the human genome using single-molecule sequencing

scientific article

Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility

scientific article

Structural diversity and African origin of the 17q21.31 inversion polymorphism

scientific article

The Complete Sequence and Comparative Analysis of Ape Sex Chromosomes

preprint article published in December 2023

The complete sequence and comparative analysis of ape sex chromosomes

scholarly article published in June 2024

Unusual 8p inverted duplication deletion with telomere capture from 8q.

scientific article

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