| Year |
Citation |
Score |
| 2024 |
Zhang S, Xu N, Fu L, Yang X, Li Y, Yang Z, Feng Y, Ma K, Jiang X, Han J, Hu R, Zhang L, de Gennaro L, Ryabov F, Meng D, ... ... Antonacci F, et al. Comparative genomics of macaques and integrated insights into genetic variation and population history. Biorxiv : the Preprint Server For Biology. PMID 38645259 DOI: 10.1101/2024.04.07.588379 |
0.566 |
|
| 2023 |
Riviello FN, Daponte A, Ponzi E, Ficarella R, Orsini P, Bucci R, Ventura M, Antonacci F, Catacchio CR, Gentile M. A Rare Case of Concurrent 2q34q36 Duplication and 2q37 Deletion in a Neonate with Syndromic Features. Genes. 14. PMID 38137016 DOI: 10.3390/genes14122194 |
0.343 |
|
| 2023 |
Makova KD, Pickett BD, Harris RS, Hartley GA, Cechova M, Pal K, Nurk S, Yoo D, Li Q, Hebbar P, McGrath BC, Antonacci F, Aubel M, Biddanda A, Borchers M, et al. The Complete Sequence and Comparative Analysis of Ape Sex Chromosomes. Biorxiv : the Preprint Server For Biology. PMID 38077089 DOI: 10.1101/2023.11.30.569198 |
0.751 |
|
| 2023 |
Paparella A, L'Abbate A, Palmisano D, Chirico G, Porubsky D, Catacchio CR, Ventura M, Eichler EE, Maggiolini FAM, Antonacci F. Structural Variation Evolution at the 15q11-q13 Disease-Associated Locus. International Journal of Molecular Sciences. 24. PMID 37958807 DOI: 10.3390/ijms242115818 |
0.622 |
|
| 2022 |
Mercuri L, Palmisano D, L'Abbate A, D'Addabbo P, Montinaro F, Catacchio CR, Hasenfeld P, Ventura M, Korbel JO, Sanders AD, Maggiolini FAM, Antonacci F. A high-resolution map of small-scale inversions in the gibbon genome. Genome Research. PMID 36180231 DOI: 10.1101/gr.276960.122 |
0.468 |
|
| 2022 |
Porubsky D, Höps W, Ashraf H, Hsieh P, Rodriguez-Martin B, Yilmaz F, Ebler J, Hallast P, Maria Maggiolini FA, Harvey WT, Henning B, Audano PA, Gordon DS, Ebert P, Hasenfeld P, ... ... Antonacci F, et al. Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders. Cell. PMID 35525246 DOI: 10.1016/j.cell.2022.04.017 |
0.621 |
|
| 2021 |
Ventura M, Antonacci F. Special Issue: A Tale of Genes and Genomes. Genes. 12. PMID 34069634 DOI: 10.3390/genes12050774 |
0.365 |
|
| 2021 |
Mao Y, Catacchio CR, Hillier LW, Porubsky D, Li R, Sulovari A, Fernandes JD, Montinaro F, Gordon DS, Storer JM, Haukness M, Fiddes IT, Murali SC, Dishuck PC, Hsieh P, ... ... Antonacci F, et al. A high-quality bonobo genome refines the analysis of hominid evolution. Nature. PMID 33953399 DOI: 10.1038/s41586-021-03519-x |
0.784 |
|
| 2020 |
Warren WC, Harris RA, Haukness M, Fiddes IT, Murali SC, Fernandes J, Dishuck PC, Storer JM, Raveendran M, Hillier LW, Porubsky D, Mao Y, Gordon D, Vollger MR, Lewis AP, ... ... Antonacci F, et al. Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility. Science (New York, N.Y.). 370. PMID 33335035 DOI: 10.1126/science.abc6617 |
0.799 |
|
| 2020 |
Maggiolini FAM, Sanders AD, Shew CJ, Sulovari A, Mao Y, Puig M, Catacchio CR, Dellino M, Palmisano D, Mercuri L, Bitonto M, Porubský D, Cáceres M, Eichler EE, Ventura M, ... ... Antonacci F, et al. Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution. Genome Research. PMID 33093070 DOI: 10.1101/gr.265322.120 |
0.824 |
|
| 2020 |
Porubsky D, Sanders AD, Höps W, Hsieh P, Sulovari A, Li R, Mercuri L, Sorensen M, Murali SC, Gordon D, Cantsilieris S, Pollen AA, Ventura M, Antonacci F, Marschall T, et al. Recurrent inversion toggling and great ape genome evolution. Nature Genetics. PMID 32541924 DOI: 10.1038/S41588-020-0646-X |
0.688 |
|
| 2020 |
Maggiolini FAM, Mercuri L, Antonacci F, Anaclerio F, Calabrese FM, Lorusso N, L'Abbate A, Sorensen M, Giannuzzi G, Eichler EE, Catacchio CR, Ventura M. Evolutionary Dynamics of the POTE Gene Family in Human and Nonhuman Primates. Genes. 11. PMID 32085667 DOI: 10.3390/Genes11020213 |
0.674 |
|
| 2019 |
Hsieh P, Vollger MR, Dang V, Porubsky D, Baker C, Cantsilieris S, Hoekzema K, Lewis AP, Munson KM, Sorensen M, Kronenberg ZN, Murali S, Nelson BJ, Chiatante G, Maggiolini FAM, ... ... Antonacci F, et al. Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes. Science (New York, N.Y.). 366. PMID 31624180 DOI: 10.1126/Science.Aax2083 |
0.653 |
|
| 2019 |
Maggiolini FAM, Cantsilieris S, D'Addabbo P, Manganelli M, Coe BP, Dumont BL, Sanders AD, Pang AWC, Vollger MR, Palumbo O, Palumbo P, Accadia M, Carella M, Eichler EE, Antonacci F. Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus. Plos Genetics. 15: e1008075. PMID 30917130 DOI: 10.1371/Journal.Pgen.1008075 |
0.842 |
|
| 2018 |
Catacchio CR, Maggiolini FAM, D'Addabbo P, Bitonto M, Capozzi O, Signorile ML, Miroballo M, Archidiacono N, Eichler EE, Ventura M, Antonacci F. Inversion variants in human and primate genomes. Genome Research. PMID 29776991 DOI: 10.1101/Gr.234831.118 |
0.702 |
|
| 2017 |
Dennis MY, Harshman L, Nelson BJ, Penn O, Cantsilieris S, Huddleston J, Antonacci F, Penewit K, Denman L, Raja A, Baker C, Mark K, Malig M, Janke N, Espinoza C, et al. The evolution and population diversity of human-specific segmental duplications. Nature Ecology & Evolution. 1: 69. PMID 28812736 DOI: 10.1038/s41559-016-0069 |
0.852 |
|
| 2017 |
Dennis MY, Harshman L, Nelson BJ, Penn O, Cantsilieris S, Huddleston J, Antonacci F, Penewit K, Denman L, Raja A, Baker C, Mark K, Malig M, Janke N, Espinoza C, et al. The evolution and population diversity of human-specific segmental duplications. Nature Ecology & Evolution. 1. PMID 28580430 DOI: 10.1038/S41559-016-0069 |
0.847 |
|
| 2017 |
Dougherty ML, Nuttle X, Penn O, Nelson BJ, Huddleston J, Baker C, Harshman L, Duyzend MH, Ventura M, Antonacci F, Sandstrom R, Dennis MY, Eichler EE. The birth of a human-specific neural gene by incomplete duplication and gene fusion. Genome Biology. 18: 49. PMID 28279197 DOI: 10.1186/S13059-017-1163-9 |
0.816 |
|
| 2017 |
Eslami Rasekh M, Chiatante G, Miroballo M, Tang J, Ventura M, Amemiya CT, Eichler EE, Antonacci F, Alkan C. Discovery of large genomic inversions using long range information. Bmc Genomics. 18: 65. PMID 28073353 DOI: 10.1186/S12864-016-3444-1 |
0.695 |
|
| 2016 |
Nuttle X, Giannuzzi G, Duyzend MH, Schraiber JG, Narvaiza I, Sudmant PH, Penn O, Chiatante G, Malig M, Huddleston J, Benner C, Camponeschi F, Ciofi-Baffoni S, Stessman HA, Marchetto MC, ... ... Antonacci F, et al. Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility. Nature. PMID 27487209 DOI: 10.1038/Nature19075 |
0.829 |
|
| 2015 |
Chaisson MJ, Huddleston J, Dennis MY, Sudmant PH, Malig M, Hormozdiari F, Antonacci F, Surti U, Sandstrom R, Boitano M, Landolin JM, Stamatoyannopoulos JA, Hunkapiller MW, Korlach J, Eichler EE. Resolving the complexity of the human genome using single-molecule sequencing. Nature. 517: 608-11. PMID 25383537 DOI: 10.1038/Nature13907 |
0.828 |
|
| 2014 |
Antonacci F, Dennis MY, Huddleston J, Sudmant PH, Steinberg KM, Rosenfeld JA, Miroballo M, Graves TA, Vives L, Malig M, Denman L, Raja A, Stuart A, Tang J, Munson B, et al. Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability. Nature Genetics. 46: 1293-302. PMID 25326701 DOI: 10.1038/Ng.3120 |
0.82 |
|
| 2014 |
Huddleston J, Ranade S, Malig M, Antonacci F, Chaisson M, Hon L, Sudmant PH, Graves TA, Alkan C, Dennis MY, Wilson RK, Turner SW, Korlach J, Eichler EE. Reconstructing complex regions of genomes using long-read sequencing technology. Genome Research. 24: 688-96. PMID 24418700 DOI: 10.1101/Gr.168450.113 |
0.825 |
|
| 2013 |
Giannuzzi G, Pazienza M, Huddleston J, Antonacci F, Malig M, Vives L, Eichler EE, Ventura M. Hominoid fission of chromosome 14/15 and the role of segmental duplications. Genome Research. 23: 1763-73. PMID 24077392 DOI: 10.1101/Gr.156240.113 |
0.605 |
|
| 2013 |
Nuttle X, Huddleston J, O'Roak BJ, Antonacci F, Fichera M, Romano C, Shendure J, Eichler EE. Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions. Nature Methods. 10: 903-9. PMID 23892896 DOI: 10.1038/Nmeth.2572 |
0.842 |
|
| 2013 |
Sudmant PH, Huddleston J, Catacchio CR, Malig M, Hillier LW, Baker C, Mohajeri K, Kondova I, Bontrop RE, Persengiev S, Antonacci F, Ventura M, Prado-Martinez J, Marques-Bonet T, et al. Evolution and diversity of copy number variation in the great ape lineage. Genome Research. 23: 1373-82. PMID 23825009 DOI: 10.1101/Gr.158543.113 |
0.842 |
|
| 2012 |
Chen YZ, Matsushita MM, Robertson P, Rieder M, Girirajan S, Antonacci F, Lipe H, Eichler EE, Nickerson DA, Bird TD, Raskind WH. Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. Archives of Neurology. 69: 630-5. PMID 22782511 DOI: 10.1001/Archneurol.2012.54 |
0.769 |
|
| 2012 |
Steinberg KM, Antonacci F, Sudmant PH, Kidd JM, Campbell CD, Vives L, Malig M, Scheinfeldt L, Beggs W, Ibrahim M, Lema G, Nyambo TB, Omar SA, Bodo JM, Froment A, et al. Structural diversity and African origin of the 17q21.31 inversion polymorphism. Nature Genetics. 44: 872-80. PMID 22751100 DOI: 10.1038/Ng.2335 |
0.775 |
|
| 2012 |
Dennis MY, Nuttle X, Sudmant PH, Antonacci F, Graves TA, Nefedov M, Rosenfeld JA, Sajjadian S, Malig M, Kotkiewicz H, Curry CJ, Shafer S, Shaffer LG, de Jong PJ, Wilson RK, et al. Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication. Cell. 149: 912-22. PMID 22559943 DOI: 10.1016/J.Cell.2012.03.033 |
0.842 |
|
| 2012 |
Fieuw A, Kumps C, Schramm A, Pattyn F, Menten B, Antonacci F, Sudmant P, Schulte JH, Van Roy N, Vergult S, Buckley PG, De Paepe A, Noguera R, Versteeg R, Stallings R, et al. Identification of a novel recurrent 1q42.2-1qter deletion in high risk MYCN single copy 11q deleted neuroblastomas. International Journal of Cancer. Journal International Du Cancer. 130: 2599-606. PMID 21796619 DOI: 10.1002/Ijc.26317 |
0.737 |
|
| 2012 |
Casillas S, Alkan C, Antonacci F, Sudmant PH, Eichler EE, Cáceres M. Calling inversions from next-generation sequencing paired-end mapping data with GRIAL F1000research. 3. DOI: 10.7490/F1000Research.1090292.1 |
0.734 |
|
| 2011 |
Hurle B, Marques-Bonet T, Antonacci F, Hughes I, Ryan JF, Eichler EE, Ornitz DM, Green ED. Lineage-specific evolution of the vertebrate Otopetrin gene family revealed by comparative genomic analyses. Bmc Evolutionary Biology. 11: 23. PMID 21261979 DOI: 10.1186/1471-2148-11-23 |
0.775 |
|
| 2011 |
Alkan C, Cardone MF, Catacchio CR, Antonacci F, O'Brien SJ, Ryder OA, Purgato S, Zoli M, Della Valle G, Eichler EE, Ventura M. Genome-wide characterization of centromeric satellites from multiple mammalian genomes. Genome Research. 21: 137-45. PMID 21081712 DOI: 10.1101/Gr.111278.110 |
0.751 |
|
| 2010 |
Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn L, Shendure J, Eichler EE. Diversity of human copy number variation and multicopy genes. Science (New York, N.Y.). 330: 641-6. PMID 21030649 DOI: 10.1126/Science.1197005 |
0.846 |
|
| 2010 |
Antonacci F, Kidd JM, Marques-Bonet T, Teague B, Ventura M, Girirajan S, Alkan C, Campbell CD, Vives L, Malig M, Rosenfeld JA, Ballif BC, Shaffer LG, Graves TA, Wilson RK, et al. A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk. Nature Genetics. 42: 745-50. PMID 20729854 DOI: 10.1038/Ng.643 |
0.831 |
|
| 2010 |
Mefford HC, Shafer N, Antonacci F, Tsai JM, Park SS, Hing AV, Rieder MJ, Smyth MD, Speltz ML, Eichler EE, Cunningham ML. Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis. American Journal of Medical Genetics. Part A. 152: 2203-10. PMID 20683987 DOI: 10.1002/Ajmg.A.33557 |
0.75 |
|
| 2010 |
Kidd JM, Sampas N, Antonacci F, Graves T, Fulton R, Hayden HS, Alkan C, Malig M, Ventura M, Giannuzzi G, Kallicki J, Anderson P, Tsalenko A, Yamada NA, Tsang P, et al. Characterization of missing human genome sequences and copy-number polymorphic insertions. Nature Methods. 7: 365-71. PMID 20440878 DOI: 10.1038/Nmeth.1451 |
0.811 |
|
| 2010 |
Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL, Dickel DE, et al. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nature Genetics. 42: 203-9. PMID 20154674 DOI: 10.1038/Ng.534 |
0.754 |
|
| 2009 |
Alkan C, Kidd JM, Marques-Bonet T, Aksay G, Antonacci F, Hormozdiari F, Kitzman JO, Baker C, Malig M, Mutlu O, Sahinalp SC, Gibbs RA, Eichler EE. Personalized copy number and segmental duplication maps using next-generation sequencing. Nature Genetics. 41: 1061-7. PMID 19718026 DOI: 10.1038/Ng.437 |
0.847 |
|
| 2009 |
Smith JJ, Antonacci F, Eichler EE, Amemiya CT. Programmed loss of millions of base pairs from a vertebrate genome. Proceedings of the National Academy of Sciences of the United States of America. 106: 11212-7. PMID 19561299 DOI: 10.1073/Pnas.0902358106 |
0.678 |
|
| 2009 |
Cellamare A, Catacchio CR, Alkan C, Giannuzzi G, Antonacci F, Cardone MF, Della Valle G, Malig M, Rocchi M, Eichler EE, Ventura M. New insights into centromere organization and evolution from the white-cheeked gibbon and marmoset. Molecular Biology and Evolution. 26: 1889-900. PMID 19429672 DOI: 10.1093/Molbev/Msp101 |
0.727 |
|
| 2009 |
Antonacci F, Kidd JM, Marques-Bonet T, Ventura M, Siswara P, Jiang Z, Eichler EE. Characterization of six human disease-associated inversion polymorphisms. Human Molecular Genetics. 18: 2555-66. PMID 19383631 DOI: 10.1093/Hmg/Ddp187 |
0.805 |
|
| 2009 |
Bekpen C, Marques-Bonet T, Alkan C, Antonacci F, Leogrande MB, Ventura M, Kidd JM, Siswara P, Howard JC, Eichler EE. Death and resurrection of the human IRGM gene. Plos Genetics. 5: e1000403. PMID 19266026 DOI: 10.1371/Journal.Pgen.1000403 |
0.806 |
|
| 2009 |
Buysse K, Antonacci F, Callewaert B, Loeys B, Fränkel U, Siu V, Mortier G, Speleman F, Menten B. Unusual 8p inverted duplication deletion with telomere capture from 8q. European Journal of Medical Genetics. 52: 31-6. PMID 19041960 DOI: 10.1016/J.Ejmg.2008.10.007 |
0.451 |
|
| 2009 |
Buysse K, Crepel A, Menten B, Pattyn F, Antonacci F, Veltman J, Larsen L, Tumer Z, Klein Ad, Laar Ivd, Devriendt K, Mortier G, Speleman F. Mapping of 5q35 chromosomal rearrangements within a genomically unstable region (vol 45, pg 672, 2008) Journal of Medical Genetics. 46: 861-861. DOI: 10.1136/Jmg.2008.058883Corr1 |
0.467 |
|
| 2008 |
Zody MC, Jiang Z, Fung HC, Antonacci F, Hillier LW, Cardone MF, Graves TA, Kidd JM, Cheng Z, Abouelleil A, Chen L, Wallis J, Glasscock J, Wilson RK, Reily AD, et al. Evolutionary toggling of the MAPT 17q21.31 inversion region. Nature Genetics. 40: 1076-83. PMID 19165922 DOI: 10.1038/Ng.193 |
0.799 |
|
| 2008 |
Buysse K, Crepel A, Menten B, Pattyn F, Antonacci F, Veltman JA, Larsen LA, Tümer Z, de Klein A, van de Laar I, Devriendt K, Mortier G, Speleman F. Mapping of 5q35 chromosomal rearrangements within a genomically unstable region. Journal of Medical Genetics. 45: 672-8. PMID 18628311 DOI: 10.1136/Jmg.2008.058883 |
0.505 |
|
| 2008 |
Kidd JM, Cooper GM, Donahue WF, Hayden HS, Sampas N, Graves T, Hansen N, Teague B, Alkan C, Antonacci F, Haugen E, Zerr T, Yamada NA, Tsang P, Newman TL, et al. Mapping and sequencing of structural variation from eight human genomes. Nature. 453: 56-64. PMID 18451855 DOI: 10.1038/Nature06862 |
0.844 |
|
| 2008 |
Vandesompele J, Michels E, De Preter K, Menten B, Schramm A, Eggert A, Ambros PF, Combaret V, Francotte N, Antonacci F, De Paepe A, Laureys G, Speleman F, Van Roy N. Identification of 2 putative critical segments of 17q gain in neuroblastoma through integrative genomics. International Journal of Cancer. Journal International Du Cancer. 122: 1177-82. PMID 17973261 DOI: 10.1002/Ijc.23156 |
0.47 |
|
| 2007 |
Ventura M, Antonacci F, Cardone MF, Stanyon R, D'Addabbo P, Cellamare A, Sprague LJ, Eichler EE, Archidiacono N, Rocchi M. Evolutionary formation of new centromeres in macaque. Science (New York, N.Y.). 316: 243-6. PMID 17431171 DOI: 10.1126/Science.1140615 |
0.655 |
|
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