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Francesca Antonacci

Research Profile

Physiology

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Evolution, Molecular

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Chromosome Deletion

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Karyn Meltz Steinberg; Peter H Sudmant; Sarah A Tishkoff; Laura Vives; Francesca Antonacci; William Beggs; Jean-Marie Bodo; Catarina D Campbell; Michael P Donnelly; Alain Froment; Muntaser Ibrahim; Jeffrey M Kidd; Kenneth K Kidd; Godfrey Lema; Maika Malig; Thomas B Nyambo; Sabah A Omar; Laura Scheinfeldt; Evan E Eichler
Structural diversity and African origin of the 17q21.31 inversion polymorphism.
Annelies Fieuw; Candy Kumps; Björn Menten; Rosa Noguera; Filip Pattyn; Alexander Schramm; Johannes H Schulte; Francesca Antonacci; Patrick Buckley; Anne De Paepe; Katleen De Preter; Angelika Eggert; Raymond L Stallings; Peter Sudmant; Nadine Van Roy; Jo Vandesompele; Sarah Vergult; Rogier Versteeg; Frank Speleman
Identification of a novel recurrent 1q42.2-1qter deletion in high risk MYCN single copy 11q deleted neuroblastomas.
Megan Y Dennis; Francesca Antonacci; Cynthia J Curry; Pieter J de Jong; Tina Graves; Holland Kotkiewicz; Maika Malig; Mikhail Nefedov; Xander Nuttle; Jill A Rosenfeld; Saba Sajjadian; Susan Shafer; Lisa G Shaffer; Peter H Sudmant; Richard K Wilson; Evan E Eichler
Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication.

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All Publications

2012: Karyn Meltz Steinberg; Peter H Sudmant; Sarah A Tishkoff; Laura Vives; Francesca Antonacci; William Beggs; Jean-Marie Bodo; Catarina D Campbell; Michael P Donnelly; Alain Froment; Muntaser Ibrahim; Jeffrey M Kidd; Kenneth K Kidd; Godfrey Lema; Maika Malig; Thomas B Nyambo; Sabah A Omar; Laura Scheinfeldt; Evan E Eichler
Structural diversity and African origin of the 17q21.31 inversion polymorphism.
Nature genetics 2012;44(8):872-80.
2012: Annelies Fieuw; Candy Kumps; Björn Menten; Rosa Noguera; Filip Pattyn; Alexander Schramm; Johannes H Schulte; Francesca Antonacci; Patrick Buckley; Anne De Paepe; Katleen De Preter; Angelika Eggert; Raymond L Stallings; Peter Sudmant; Nadine Van Roy; Jo Vandesompele; Sarah Vergult; Rogier Versteeg; Frank Speleman
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 2012;130(11):2599-606.
2012: Megan Y Dennis; Francesca Antonacci; Cynthia J Curry; Pieter J de Jong; Tina Graves; Holland Kotkiewicz; Maika Malig; Mikhail Nefedov; Xander Nuttle; Jill A Rosenfeld; Saba Sajjadian; Susan Shafer; Lisa G Shaffer; Peter H Sudmant; Richard K Wilson; Evan E Eichler
Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication.
Cell 2012;149(4):912-22.
2012: Ying-Zhang Chen; Evan E Eichler; Santhosh Girirajan; Hillary Lipe; Mark M Matsushita; Deborah A Nickerson; Francesca Antonacci; Thomas D Bird; Mark Rieder; Peggy Robertson; Wendy H Raskind
Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.
Archives of neurology 2012;69(5):630-5.
2011: Can Alkan; Maria Francesca Cardone; Claudia Rita Catacchio; Francesca Antonacci; Stephen J O'Brien; Oliver A Ryder; Stefania Purgato; Monica Zoli; Giuliano Della Valle; Evan E Eichler; Mario Ventura
Genome-wide characterization of centromeric satellites from multiple mammalian genomes.
Genome research 2011;21(1):137-45.
2010: Peter H Sudmant; Jacob O Kitzman; Francesca Antonacci; Can Alkan; Maika Malig; Anya Tsalenko; Nick Sampas; Laurakay Bruhn; Jay Shendure; Evan E Eichler
Diversity of human copy number variation and multicopy genes.
Science (New York, N.Y.) 2010;330(6004):641-6.
2010: Francesca Antonacci; Jeffrey M Kidd; Tomas Marques-Bonet; Brian Teague; Mario Ventura; Santhosh Girirajan; Can Alkan; Catarina D Campbell; Laura Vives; Maika Malig; Jill A Rosenfeld; Blake C Ballif; Lisa Shaffer; Tina A Graves; Richard K Wilson; David C Schwartz; Evan E Eichler
A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk.
Nature genetics 2010;42(9):745-50.
2010: Jeffrey M Kidd; Nick Sampas; Francesca Antonacci; Tina Graves; Robert Fulton; Hillary S Hayden; Can Alkan; Maika Malig; Mario Ventura; Giuliana Giannuzzi; Joelle Kallicki; Paige Anderson; Anya Tsalenko; N Alice Yamada; Peter Tsang; Rajinder Kaul; Richard K Wilson; Laurakay Bruhn; Evan E Eichler
Characterization of missing human genome sequences and copy-number polymorphic insertions.
Nature methods 2010;7(5):365-71.
2010: Santhosh Girirajan; Jill A Rosenfeld; Gregory Cooper; Francesca Antonacci; Priscillia Siswara; Andy Itsara; Laura Vives; Tom Walsh; Shane E McCarthy; Carl Baker; Heather C Mefford; Jeffrey M Kidd; Sharon R Browning; Brian L Browning; Diane E Dickel; Deborah L Levy; Blake C Ballif; Kathryn Platky; Darren M Farber; Gordon C Gowans; Jessica J Wetherbee; Alexander Asamoah; David D Weaver; Paul R Mark; Jennifer Dickerson; Bhuwan P Garg; Sara A Ellingwood; Rosemarie Smith; Valerie C Banks; Wendy Smith; Marie T McDonald; Joe J Hoo; Beatrice N French; Cindy Hudson; John P Johnson; Jillian R Ozmore; John B Moeschler; Urvashi Surti; Luis F Escobar; Dima El-Khechen; Jerome L Gorski; Jennifer Kussmann; Bonnie Salbert; Yves Lacassie; Alisha Biser; Donna M McDonald-McGinn; Elaine H Zackai; Matthew A Deardorff; Tamim H Shaikh; Eric Haan; Kathryn L Friend; Marco Fichera; Corrado Romano; Jozef Gécz; Lynn E DeLisi; Jonathan Sebat; Mary-Claire King; Lisa Shaffer; Evan E Eichler
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.
Nature genetics 2010;42(3):203-9.
2009: Can Alkan; Jeffrey M Kidd; Tomas Marques-Bonet; Gozde Aksay; Francesca Antonacci; Fereydoun Hormozdiari; Jacob O Kitzman; Carl Baker; Maika Malig; Onur Mutlu; S Cenk Sahinalp; Richard A Gibbs; Evan E Eichler
Personalized copy number and segmental duplication maps using next-generation sequencing.
Nature genetics 2009;41(10):1061-7.
2009: A Cellamare; C R Catacchio; C Alkan; G Giannuzzi; Francesca Antonacci; Maria Francesca Cardone; G Della Valle; M Malig; Mariano Rocchi; Evan E Eichler; ventura Mario
New insights into centromere organization and evolution from the white-cheeked gibbon and marmoset.
Molecular biology and evolution 2009;26(8):1889-900.
2009: Francesca Antonacci; Jeffrey M Kidd; Tomas Marques-Bonet; Mario Ventura; Priscillia Siswara; Zhaoshi Jiang; Evan E Eichler
Characterization of six human disease-associated inversion polymorphisms.
Human molecular genetics 2009;18(14):2555-66.
2009: Jeramiah J Smith; Francesca Antonacci; Evan E Eichler; Chris T Amemiya
Programmed loss of millions of base pairs from a vertebrate genome.
Proceedings of the National Academy of Sciences of the United States of America 2009;106(27):11212-7.
2009: Cemalettin Bekpen; Tomas Marques-Bonet; Can Alkan; Francesca Antonacci; Maria Bruna Leogrande; ventura Mario; Jeffrey M Kidd; Priscillia Siswara; Jonathan C Howard; Evan E Eichler
Death and resurrection of the human IRGM gene.
PLoS genetics 2009;5(3):e1000403.
2009: Karen Buysse; Francesca Antonacci; Bert Callewaert; Bart Loeys; Ulrike Fränkel; Victoria Siu; Geert R Mortier; Frank Speleman; Björn Menten
Unusual 8p inverted duplication deletion with telomere capture from 8q.
European journal of medical genetics 2009;52(1):31-6.
2008: K Buysse; A Crepel; B Menten; F Pattyn; Francesca Antonacci; Joris Veltman; L A Larsen; Z Tümer; A de Klein; I van de Laar; koenraad devriendt; G Mortier; F Speleman
Mapping of 5q35 chromosomal rearrangements within a genomically unstable region.
Journal of medical genetics 2008;45(10):672-8.
2008: Michael C Zody; Zhaoshi Jiang; Hon-Chung Fung; Francesca Antonacci; LaDeana W Hillier; Maria Francesca Cardone; Tina A Graves; Jeffrey M Kidd; Ze Cheng; Amr Abouelleil; Lin Chen; John Wallis; Jarret Glasscock; Richard K Wilson; Amy Denise Reily; Jaime Duckworth; ventura Mario; John Hardy; Wesley C Warren; Evan E Eichler
Evolutionary toggling of the MAPT 17q21.31 inversion region.
Nature genetics 2008;40(9):1076-83.
2008: Jeffrey M Kidd; Gregory Cooper; William F Donahue; Hillary S Hayden; Nick Sampas; Tina Graves; Nancy Hansen; Brian Teague; Can Alkan; Francesca Antonacci; Eric Haugen; Troy Zerr; N Alice Yamada; Peter Tsang; Tera L Newman; Eray Tüzün; Ze Cheng; Heather M Ebling; Nadeem Tusneem; Robert David; Will Gillett; Karen A Phelps; Molly Weaver; David Saranga; Adrianne Brand; Wei Tao; Erik Gustafson; Kevin McKernan; Lin Chen; Maika Malig; Joshua D Smith; Joshua M Korn; Steven A McCarroll; David A Altshuler; Daniel A Peiffer; Michael Dorschner; John Stamatoyannopoulos; David Schwartz; Deborah A Nickerson; James C Mullikin; Richard K Wilson; Laurakay Bruhn; Maynard V Olson; Rajinder Kaul; joshua smith; Evan E Eichler
Mapping and sequencing of structural variation from eight human genomes.
Nature 2008;453(7191):56-64.
2008: Jo Vandesompele; Evi Michels; Katleen De Preter; Björn Menten; Alexander Schramm; Angelika Eggert; Peter F Ambros; Valérie Combaret; Nadine Francotte; Francesca Antonacci; Anne De Paepe; Geneviève Laureys; Frank Speleman; Nadine Van Roy
Identification of 2 putative critical segments of 17q gain in neuroblastoma through integrative genomics.
International journal of cancer. Journal international du cancer 2008;122(5):1177-82.
2007: ventura Mario; Francesca Antonacci; Maria Francesca Cardone; Roscoe Stanyon; Pietro D'Addabbo; Angelo Cellamare; L James Sprague; Evan E Eichler; Nicoletta Archidiacono; Mariano Rocchi
Evolutionary formation of new centromeres in macaque.
Science (New York, N.Y.) 2007;316(5822):243-6.