Francesca Antonacci
Francesca Antonacci
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Mapping and sequencing of structural variation from eight human genomes
JM Kidd, GM Cooper, WF Donahue, HS Hayden, N Sampas, T Graves, ...
Nature 453 (7191), 56-64, 2008
12752008
Personalized copy number and segmental duplication maps using next-generation sequencing
C Alkan, JM Kidd, T Marques-Bonet, G Aksay, F Antonacci, F Hormozdiari, ...
Nature genetics 41 (10), 1061-1067, 2009
8002009
Diversity of human copy number variation and multicopy genes
PH Sudmant, JO Kitzman, F Antonacci, C Alkan, M Malig, A Tsalenko, ...
Science 330 (6004), 641-646, 2010
6362010
Resolving the complexity of the human genome using single-molecule sequencing
MJP Chaisson, J Huddleston, MY Dennis, PH Sudmant, M Malig, ...
Nature, 2014
5872014
A recurrent 16p12. 1 microdeletion supports a two-hit model for severe developmental delay
S Girirajan, JA Rosenfeld, GM Cooper, F Antonacci, P Siswara, A Itsara, ...
Nature genetics 42 (3), 203-209, 2010
5592010
Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication
MY Dennis, X Nuttle, PH Sudmant, F Antonacci, TA Graves, M Nefedov, ...
Cell 149 (4), 912-922, 2012
3432012
Reconstructing complex regions of genomes using long-read sequencing technology
J Huddleston, S Ranade, M Malig, F Antonacci, M Chaisson, L Hon, ...
Genome research 24 (4), 688-696, 2014
2302014
Evolutionary toggling of the MAPT 17q21. 31 inversion region
MC Zody, Z Jiang, HC Fung, F Antonacci, LDW Hillier, MF Cardone, ...
Nature genetics 40 (9), 1076-1083, 2008
1662008
Characterization of missing human genome sequences and copy-number polymorphic insertions
JM Kidd, N Sampas, F Antonacci, T Graves, R Fulton, HS Hayden, ...
Nature methods 7 (5), 365-371, 2010
1522010
Programmed loss of millions of base pairs from a vertebrate genome
JJ Smith, F Antonacci, EE Eichler, CT Amemiya
Proceedings of the National Academy of Sciences 106 (27), 11212-11217, 2009
1362009
Evolutionary formation of new centromeres in macaque
M Ventura, F Antonacci, MF Cardone, R Stanyon, P D'Addabbo, ...
Science 316 (5822), 243-246, 2007
1342007
Characterization of six human disease-associated inversion polymorphisms
F Antonacci, JM Kidd, T Marques-Bonet, M Ventura, P Siswara, Z Jiang, ...
Human molecular genetics 18 (14), 2555-2566, 2009
1282009
Evolution and diversity of copy number variation in the great ape lineage
PH Sudmant, J Huddleston, CR Catacchio, M Malig, LDW Hillier, C Baker, ...
Genome research 23 (9), 1373-1382, 2013
1222013
Death and resurrection of the human IRGM gene
C Bekpen, T Marques-Bonet, C Alkan, F Antonacci, MB Leogrande, ...
PLoS genetics 5 (3), e1000403, 2009
1192009
Structural diversity and African origin of the 17q21. 31 inversion polymorphism
KM Steinberg, F Antonacci, PH Sudmant, JM Kidd, CD Campbell, L Vives, ...
Nature genetics 44 (8), 872-880, 2012
1082012
A large and complex structural polymorphism at 16p12. 1 underlies microdeletion disease risk
F Antonacci, JM Kidd, T Marques-Bonet, B Teague, M Ventura, S Girirajan, ...
Nature genetics 42 (9), 745-750, 2010
992010
Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5
YZ Chen, MM Matsushita, P Robertson, M Rieder, S Girirajan, F Antonacci, ...
Archives of neurology 69 (5), 630-635, 2012
942012
Genome-wide characterization of centromeric satellites from multiple mammalian genomes
C Alkan, MF Cardone, CR Catacchio, F Antonacci, SJ O'Brien, OA Ryder, ...
Genome research 21 (1), 137-145, 2011
882011
Copy number variation analysis in single‐suture craniosynostosis: Multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis
HC Mefford, N Shafer, F Antonacci, JM Tsai, SS Park, AV Hing, MJ Rieder, ...
American Journal of Medical Genetics Part A 152 (9), 2203-2210, 2010
822010
Palindromic GOLGA8 core duplicons promote chromosome 15q13. 3 microdeletion and evolutionary instability
F Antonacci, MY Dennis, J Huddleston, PH Sudmant, KM Steinberg, ...
Nature genetics 46 (12), 1293-1302, 2014
792014
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Artikelen 1–20