| 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 | 1424 | 2008 |
| 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 | 962 | 2009 |
| Resolving the complexity of the human genome using single-molecule sequencing MJP Chaisson, J Huddleston, MY Dennis, PH Sudmant, M Malig, ... Nature, 2014 | 846 | 2014 |
| 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 | 782 | 2010 |
| 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 | 657 | 2010 |
| 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 | 447 | 2012 |
| 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 | 285 | 2014 |
| 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 | 217 | 2008 |
| 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 | 183 | 2010 |
| 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 | 174 | 2013 |
| 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 | 170 | 2009 |
| 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 | 163 | 2009 |
| Evolutionary formation of new centromeres in macaque M Ventura, F Antonacci, MF Cardone, R Stanyon, P D'Addabbo, ... Science 316 (5822), 243-246, 2007 | 160 | 2007 |
| 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 | 157 | 2012 |
| 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 | 143 | 2009 |
| 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 | 140 | 2012 |
| 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 | 126 | 2010 |
| 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 | 125 | 2014 |
| 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 | 113 | 2011 |
| 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 | 106 | 2010 |
