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EDUCATION
- PhD in Genetics and Molecular Evolution November 2004 – October 2007
Department of Genetics and Microbiology
University of Bari, Bari (Italy)
- Master’s Degree in Biological Science September 1999 – July 2004
Magna Cum Laude
University of Bari, Bari (Italy)
CURRENT POSITION
- Assistant Professor (tenure track) July 2012-present
Department of Biology
University of Bari, Bari, Italy
PREVIOUS PROFESSIONAL EXPERIENCE
- Postdoctoral fellow November 2007 – July 2012
Evan E. Eichler’s Laboratory
Department of Genome Sciences
University of Washington, Seattle, WA
- Training as visiting PhD student March 2007 – June 2007
Evan Eichler’s Laboratory
Department of Genome Sciences
University of Washington, Seattle, WA
- Training as visiting PhD student May 2006 – December 2006
Franki Speleman’s Laboratory
Center for Medical Genetics, Ghent University Hospital
Ghent, Belgium
- PhD in “Genetics and Molecular Evolution” November 2004 – October 2007
Department of Genetics and Microbiology
University of Bari (Italy)
Supervisor: Prof. Nicoletta Archidiacono
- Internship as master student March 2003 – July 2004
Prof. Mariano Rocchi’s Laboratory
Department of Genetics and Microbiology
University of Bari (Italy)
FELLOWSHIPS AND AWARDS
- Finalist for the 2012 ISSNAF (Italian Scientists and Scholars in North America Foundation) Young Investigator Award
- EMBO (European Molecular Biology Organization) fellowship (ASTF 356-2006) for the project “Array-CGH detection of micro rearrangements in MR individuals” (2006, Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium)
FUNDING
As Principal Investigator
- 2016-2018 FONDAZIONE CASSA DI RISPARMIO DI PUGLIA – BANDO RICERCATORI 2015 Inversion variants in human and primate genomes.
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2017 Finanziamento di Ateneo per Progetti PRIN 2015 idonei (punteggio eccellente) e non finanziati dal MIUR Structural variation of the human genome and its role in reproductive failure
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, Stessman HAF, Nuttle X, Hoekzema K, Lindsay-Graves TA, Wilson RK, Eichler EE.
The evolution and population diversity of human-specific segmental duplications.
Nat Ecol Evol. 2017;1. pii: 0069. doi: 10.1038/s41559-016-0069. Epub 2017 Feb 17.
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 Biol. 2017 Mar 9;18(1):49. doi: 10.1186/s13059-017-1163-9.
Eslami Rasekh M, Chiatante G, Miroballo M, Tang J, Ventura M, Amemiya CT, Eichler EE, Antonacci F*, Alkan C*.
* Corresponding authors contributed equally to this work.
Discovery of large genomic inversions using long range information.
BMC Genomics. 2017 Jan 10;18(1):65. doi: 10.1186/s12864-016-3444-1.
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, Denman L, Harshman L, Baker C, Raja A, Penewit K, Janke N, Tang WJ, Ventura M, Banci L, Antonacci F, Akey JM, Amemiya CT, Gage FH, Reymond A, Eichler EE.
Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility.
Nature. 2016 Aug 11;536(7615):205-9.
Chaisson MJP, 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. 2015 Jan 29;517(7536):608-11. doi: 10.1038/nature13907.
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, Shaffer LG, Amemiya CT, Wilson RK, Eichler EE.
Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability.
Nat Genet. 2014 Dec;46(12):1293-302. doi: 10.1038/ng.3120.
Steinberg KM*, Antonacci F*, Sudmant P, Kidd JM, Campbell CD, Vives L, Malig M, Scheinfeldt L, Beggs W, Ibrahim M, Lema G, Nyambo TB, Omar SA, Bodo JM, Froment A, Donnelly MP, Kidd KK, Tishkoff SA, Eichler EE.
* These authors contributed equally to this work.
Structural diversity and African origin of the 17q21.31 inversion polymorphism.
Nat Genet. 2012 Jul 1;44(8):872-80. doi: 10.1038/ng.2335.
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, Eichler EE
Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication.
Cell. 2012 May 11;149(4):912-22. doi: 10.1016/j.cell.2012.03.033.
Sudmant PH*, Kitzman JO*, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn L, Shendure J; 1000 Genomes Project, Eichler EE.
Diversity of human copy number variation and multicopy genes.
Science. 2010 Oct 29;330(6004):641-6. doi: 10.1126/science.1197005.
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, Schwartz DC, Eichler EE.
A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk.
Nat Genet. 2010 Sep;42(9):745-50. doi: 10.1038/ng.643.
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, Levy DL, Ballif BC, Platky K, Farber DM, Gowans GC, Wetherbee JJ, Asamoah A, Weaver DD, Mark PR, Dickerson J, Garg BP, Ellingwood SA, Smith R, Banks VC, Smith W, McDonald MT, Hoo JJ, French BN, Hudson C, Johnson JP, Ozmore JR, Moeschler JB, Surti U, Escobar LF, El-Khechen D, Gorski JL, Kussmann J, Salbert B, Lacassie Y, Biser A, McDonald-McGinn DM, Zackai EH, Deardorff MA, Shaikh TH, Haan E, Friend KL, Fichera M, Romano C, Gécz J, DeLisi LE, Sebat J, King MC, Shaffer LG, Eichler EE.
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.
Nat Genet. 2010 Mar;42(3):203-9. doi: 10.1038/ng.534.
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.
Nat Genet. 2009 Oct;41(10):1061-7. doi: 10.1038/ng.437.
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, Duckworth J, Ventura M, Hardy J, Warren WC, Eichler EE.
Evolutionary toggling of the MAPT 17q21.31 inversion region.
Nat Genet. 2008 Sep;40(9):1076-83. doi: 10.1038/ng.193.
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, Tüzün E, Cheng Z, Ebling HM, Tusneem N, David R, Gillett W, Phelps KA, Weaver M, Saranga D, Brand A, Tao W, Gustafson E, McKernan K, Chen L, Malig M, Smith JD, Korn JM, McCarroll SA, Altshuler DA, Peiffer DA, Dorschner M, Stamatoyannopoulos J, Schwartz D, Nickerson DA, Mullikin JC, Wilson RK, Bruhn L, Olson MV, Kaul R, Smith DR, Eichler EE.
Mapping and sequencing of structural variation from eight human genomes.
Nature. 2008 May 1;453(7191):56-64. doi: 10.1038/nature06862.
Ventura M*, Antonacci F*, Cardone MF, Stanyon R, D'Addabbo P, Cellamare A, Sprague LJ, Eichler EE, Archidiacono N, Rocchi M.
* These authors contributed equally to this work.
Evolutionary formation of new centromeres in macaque.
Science. 2007 Apr 13;316(5822):243-6. doi: 10.1126/science.1197005.
Viariabilità strutturale del genoma umano e dei primati.
Duplicazioni segmentali e plasticità del genoma.
Sequenziamento ed assemblaggio dei genomi.
variabilità genomica
inversioni cromosomiche
duplicazioni segmentali
4.
disordini genomici