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Open Access
Peer-reviewed
Research Article
Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus
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Flavia A. M. Maggiolini,
Roles Conceptualization, Data curation, Investigation, Validation, Visualization, Writing – original draft, Writing – review & editing
Affiliation Dipartimento di Biologia, Università degli Studi di Bari “Aldo Moro”, Bari, Italy
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Stuart Cantsilieris,
Roles Validation, Visualization
Affiliation Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, United States of America
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Pietro D’Addabbo,
Roles Validation, Visualization
Affiliation Dipartimento di Biologia, Università degli Studi di Bari “Aldo Moro”, Bari, Italy
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Michele Manganelli,
Roles Validation
Affiliation Dipartimento di Biologia, Università degli Studi di Bari “Aldo Moro”, Bari, Italy
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Bradley P. Coe,
Roles Validation, Visualization
Affiliation Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, United States of America
⨯ - Beth L. Dumont,
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Ashley D. Sanders,
Roles Investigation, Visualization
Affiliation European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Meyerhofstraße 1, Heidelberg, Germany
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Andy Wing Chun Pang,
Roles Investigation, Visualization
Affiliation Bionano Genomics, San Diego, CA, United States of America
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Mitchell R. Vollger,
Roles Investigation, Visualization
Affiliation Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, United States of America
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Orazio Palumbo,
Roles Resources
Affiliation Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy
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Pietro Palumbo,
Roles Resources
Affiliation Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy
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Maria Accadia,
Roles Resources
Affiliation Medical Genetics Service, Hospital “Cardinale G. Panico”, Via San Pio X n°4, Tricase, LE, Italy
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Massimo Carella,
Roles Resources
Affiliation Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy
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Evan E. Eichler,
Roles Funding acquisition, Investigation, Resources
Affiliations Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, United States of America, Howard Hughes Medical Institute, University of Washington, Seattle, WA, United States of America
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Francesca Antonacci
Roles Conceptualization, Data curation, Funding acquisition, Investigation, Project administration, Supervision, Validation, Visualization, Writing – original draft, Writing – review & editing
* E-mail: francesca.antonacci@uniba.it
Affiliation Dipartimento di Biologia, Università degli Studi di Bari “Aldo Moro”, Bari, Italy
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Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus
- Flavia A. M. Maggiolini,
- Stuart Cantsilieris,
- Pietro D’Addabbo,
- Michele Manganelli,
- Bradley P. Coe,
- Beth L. Dumont,
- Ashley D. Sanders,
- Andy Wing Chun Pang,
- Mitchell R. Vollger,
- Orazio Palumbo
- Published: March 27, 2019
- https://doi.org/10.1371/journal.pgen.1008075