Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 46

1.

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

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.

PLoS Genet. 2019 Mar 27;15(3):e1008075. doi: 10.1371/journal.pgen.1008075. eCollection 2019 Mar.

2.

Asthma-like symptoms: is it always a pulmonary issue?

Piloni D, Tirelli C, Domenica RD, Conio V, Grosso A, Ronzoni V, Antonacci F, Totaro P, Corsico AG.

Multidiscip Respir Med. 2018 Aug 3;13:21. doi: 10.1186/s40248-018-0136-5. eCollection 2018.

3.

Inversion variants in human and primate genomes.

Catacchio CR, Maggiolini FAM, D'Addabbo P, Bitonto M, Capozzi O, Lepore Signorile M, Miroballo M, Archidiacono N, Eichler EE, Ventura M, Antonacci F.

Genome Res. 2018 Jun;28(6):910-920. doi: 10.1101/gr.234831.118. Epub 2018 May 18.

4.

Veno-venous ECMO during surgical repair of tracheal perforation: A case report.

Antonacci F, De Tisi C, Donadoni I, Maurelli M, Iotti G, Taccone FS, Orlandoni G, Pellegrini C, Belliato M.

Int J Surg Case Rep. 2018;42:64-66. doi: 10.1016/j.ijscr.2017.11.036. Epub 2017 Nov 24.

5.

Analysis of long term CD4+CD25highCD127- T-reg cells kinetics in peripheral blood of lung transplant recipients.

Piloni D, Morosini M, Magni S, Balderacchi A, Scudeller L, Cova E, Oggionni T, Stella G, Tinelli C, Antonacci F, D'Armini AM, Meloni F.

BMC Pulm Med. 2017 Jul 18;17(1):102. doi: 10.1186/s12890-017-0446-y.

6.

The evolution and population diversity of human-specific segmental duplications.

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.

Nat Ecol Evol. 2017;1(3):69. doi: 10.1038/s41559-016-0069. Epub 2017 Feb 17.

7.

The birth of a human-specific neural gene by incomplete duplication and gene fusion.

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.

Genome Biol. 2017 Mar 9;18(1):49. doi: 10.1186/s13059-017-1163-9.

8.

Discovery of large genomic inversions using long range information.

Eslami Rasekh M, Chiatante G, Miroballo M, Tang J, Ventura M, Amemiya CT, Eichler EE, Antonacci F, Alkan C.

BMC Genomics. 2017 Jan 10;18(1):65. doi: 10.1186/s12864-016-3444-1.

9.

Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility.

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.

Nature. 2016 Aug 11;536(7615):205-9. Epub 2016 Aug 3.

10.

3D Beam Tracing Based on Visibility Lookup for Interactive Acoustic Modeling.

Markovic D, Antonacci F, Sarti A, Tubaro S.

IEEE Trans Vis Comput Graph. 2016 Oct;22(10):2262-2274. doi: 10.1109/TVCG.2016.2515612. Epub 2016 Jan 7.

PMID:
26761820
11.

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

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.

Nature. 2015 Jan 29;517(7536):608-11. doi: 10.1038/nature13907. Epub 2014 Nov 10.

12.

Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability.

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.

Nat Genet. 2014 Dec;46(12):1293-302. doi: 10.1038/ng.3120. Epub 2014 Oct 19.

13.

Reconstructing complex regions of genomes using long-read sequencing technology.

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.

Genome Res. 2014 Apr;24(4):688-96. doi: 10.1101/gr.168450.113. Epub 2014 Jan 13.

14.

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

Giannuzzi G, Pazienza M, Huddleston J, Antonacci F, Malig M, Vives L, Eichler EE, Ventura M.

Genome Res. 2013 Nov;23(11):1763-73. doi: 10.1101/gr.156240.113. Epub 2013 Sep 27.

15.

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

Nuttle X, Huddleston J, O'Roak BJ, Antonacci F, Fichera M, Romano C, Shendure J, Eichler EE.

Nat Methods. 2013 Sep;10(9):903-9. doi: 10.1038/nmeth.2572. Epub 2013 Jul 28.

16.

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

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; Great Ape Genome Project, Marques-Bonet T, Eichler EE.

Genome Res. 2013 Sep;23(9):1373-82. doi: 10.1101/gr.158543.113. Epub 2013 Jul 3.

17.

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

Chen YZ, Matsushita MM, Robertson P, Rieder M, Girirajan S, Antonacci F, Lipe H, Eichler EE, Nickerson DA, Bird TD, Raskind WH.

Arch Neurol. 2012 May;69(5):630-5. doi: 10.1001/archneurol.2012.54.

18.

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

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, Donnelly MP, Kidd KK, Tishkoff SA, Eichler EE.

Nat Genet. 2012 Jul 1;44(8):872-80. doi: 10.1038/ng.2335.

19.

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

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.

Cell. 2012 May 11;149(4):912-22. doi: 10.1016/j.cell.2012.03.033. Epub 2012 May 3.

20.

Costal metastasis: A singular localization of gastrointestinal carcinoid tumor.

Kawamukai K, Marucci G, Di Saverio S, Antonacci F, Porrello C, Boaron M.

Ann Thorac Med. 2012 Apr;7(2):104-6. doi: 10.4103/1817-1737.94533. No abstract available.

21.

Re-anastomosis of the anomalous segmental pulmonary vein during inferior bilobectomy.

Schiavon M, Antonacci F, Santelmo N, Massard G.

Interact Cardiovasc Thorac Surg. 2012 Aug;15(2):325-7. doi: 10.1093/icvts/ivs131. Epub 2012 May 2.

22.

Preresection serum C-reactive protein measurement and survival among patients with resectable non-small cell lung cancer.

Alifano M, Falcoz PE, Seegers V, Roche N, Schussler O, Younes M, Antonacci F, Forgez P, Dechartres A, Massard G, Damotte D, Régnard JF.

J Thorac Cardiovasc Surg. 2011 Nov;142(5):1161-7. doi: 10.1016/j.jtcvs.2011.07.021. Epub 2011 Aug 26.

23.

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

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, Eggert A, Vandesompele J, De Preter K, Speleman F.

Int J Cancer. 2012 Jun 1;130(11):2599-606. doi: 10.1002/ijc.26317. Epub 2011 Aug 29.

24.

Backstabbing.

Kawamukai K, Antonacci F, Parri SN, Di Saverio S, Boaron M.

J Emerg Trauma Shock. 2011 Jan;4(1):146. doi: 10.4103/0974-2700.76813. No abstract available.

PMID:
21633588
Free PMC Article
25.

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

Hurle B, Marques-Bonet T, Antonacci F, Hughes I, Ryan JF; NISC Comparative Sequencing Program, Eichler EE, Ornitz DM, Green ED.

BMC Evol Biol. 2011 Jan 24;11:23. doi: 10.1186/1471-2148-11-23.

26.

Mediastinal germ cell tumour with massive pulmonary involvement.

Kawamukai K, Di Saverio S, Antonacci F, Lacava N, Boaron M.

BMJ Case Rep. 2011 Aug 11;2011. pii: bcr1220103671. doi: 10.1136/bcr.12.2010.3671.

27.

Genome-wide characterization of centromeric satellites from multiple mammalian genomes.

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 Res. 2011 Jan;21(1):137-45. doi: 10.1101/gr.111278.110. Epub 2010 Nov 16.

28.

Diversity of human copy number variation and multicopy genes.

Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn L, Shendure J; 1000 Genomes Project, Eichler EE.

Science. 2010 Oct 29;330(6004):641-6. doi: 10.1126/science.1197005.

29.

Acute postoperative cardiac herniation.

Kawamukai K, Antonacci F, Di Saverio S, Boaron M.

Interact Cardiovasc Thorac Surg. 2011 Jan;12(1):73-4. doi: 10.1510/icvts.2010.245282. Epub 2010 Oct 12.

PMID:
20940166
30.

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

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.

Nat Genet. 2010 Sep;42(9):745-50. doi: 10.1038/ng.643. Epub 2010 Aug 22.

31.

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

Mefford HC, Shafer N, Antonacci F, Tsai JM, Park SS, Hing AV, Rieder MJ, Smyth MD, Speltz ML, Eichler EE, Cunningham ML.

Am J Med Genet A. 2010 Sep;152A(9):2203-10. doi: 10.1002/ajmg.a.33557.

32.

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

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, Kaul R, Wilson RK, Bruhn L, Eichler EE.

Nat Methods. 2010 May;7(5):365-71.

33.

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

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.

Nat Genet. 2010 Mar;42(3):203-9. doi: 10.1038/ng.534. Epub 2010 Feb 14.

34.

Diverticulum of the midthoracic oesophagus and left diaphragmatic relaxation.

Antonacci N, Sciannamea G, Antonacci F, Casadei R, Ricci C, Di Saverio S, Minni F.

BMJ Case Rep. 2010 Nov 5;2010. pii: bcr0420102950. doi: 10.1136/bcr.04.2010.2950.

35.

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

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.

Nat Genet. 2009 Oct;41(10):1061-7. doi: 10.1038/ng.437. Epub 2009 Aug 30.

36.

Programmed loss of millions of base pairs from a vertebrate genome.

Smith JJ, Antonacci F, Eichler EE, Amemiya CT.

Proc Natl Acad Sci U S A. 2009 Jul 7;106(27):11212-7. doi: 10.1073/pnas.0902358106. Epub 2009 Jun 26.

37.

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

Cellamare A, Catacchio CR, Alkan C, Giannuzzi G, Antonacci F, Cardone MF, Della Valle G, Malig M, Rocchi M, Eichler EE, Ventura M.

Mol Biol Evol. 2009 Aug;26(8):1889-900. doi: 10.1093/molbev/msp101. Epub 2009 May 8.

38.

Characterization of six human disease-associated inversion polymorphisms.

Antonacci F, Kidd JM, Marques-Bonet T, Ventura M, Siswara P, Jiang Z, Eichler EE.

Hum Mol Genet. 2009 Jul 15;18(14):2555-66. doi: 10.1093/hmg/ddp187. Epub 2009 Apr 21.

39.

Death and resurrection of the human IRGM gene.

Bekpen C, Marques-Bonet T, Alkan C, Antonacci F, Leogrande MB, Ventura M, Kidd JM, Siswara P, Howard JC, Eichler EE.

PLoS Genet. 2009 Mar;5(3):e1000403. doi: 10.1371/journal.pgen.1000403. Epub 2009 Mar 6.

40.

Evolutionary toggling of the MAPT 17q21.31 inversion region.

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.

Nat Genet. 2008 Sep;40(9):1076-83. doi: 10.1038/ng.193.

41.

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

Buysse K, Antonacci F, Callewaert B, Loeys B, Fränkel U, Siu V, Mortier G, Speleman F, Menten B.

Eur J Med Genet. 2009 Jan-Feb;52(1):31-6. doi: 10.1016/j.ejmg.2008.10.007. Epub 2008 Nov 17.

PMID:
19041960
42.

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

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.

J Med Genet. 2008 Oct;45(10):672-8. doi: 10.1136/jmg.2008.058883. Epub 2008 Jul 15. Erratum in: J Med Genet. 2009 Dec;46(12):861.

PMID:
18628311
43.

Mapping and sequencing of structural variation from eight human genomes.

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.

Nature. 2008 May 1;453(7191):56-64. doi: 10.1038/nature06862.

44.

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

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.

Int J Cancer. 2008 Mar 1;122(5):1177-82.

45.

Evolutionary formation of new centromeres in macaque.

Ventura M, Antonacci F, Cardone MF, Stanyon R, D'Addabbo P, Cellamare A, Sprague LJ, Eichler EE, Archidiacono N, Rocchi M.

Science. 2007 Apr 13;316(5822):243-6.

46.

Long-term results after Heller-Dor operation for oesophageal achalasia.

Ruffato A, Mattioli S, Lugaresi ML, D'Ovidio F, Antonacci F, Di Simone MP.

Eur J Cardiothorac Surg. 2006 Jun;29(6):914-9. Epub 2006 May 3.

PMID:
16675239

Supplemental Content

Loading ...
Support Center