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Open Access
Peer-reviewed
Research Article
Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome
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Sujata Srikanth ,
Contributed equally to this work with: Sujata Srikanth, Lavanya Jain
Roles Investigation, Writing – original draft
Affiliation Greenwood Genetic Center, Greenwood, SC, United States of America
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Lavanya Jain ,
Contributed equally to this work with: Sujata Srikanth, Lavanya Jain
Roles Data curation, Investigation, Writing – original draft
Affiliation School of Nursing, Healthcare Genetics Program, Clemson University, Clemson, SC, United States of America
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Cinthya Zepeda-Mendoza,
Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Writing – review & editing
Affiliations Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women’s Hospital, Boston, MA, United States of America, Harvard Medical School, Boston, MA, United States of America
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Lauren Cascio,
Roles Investigation, Writing – original draft
Affiliation Greenwood Genetic Center, Greenwood, SC, United States of America
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Kelly Jones,
Roles Investigation, Writing – original draft
Affiliation Greenwood Genetic Center, Greenwood, SC, United States of America
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Rini Pauly,
Roles Data curation, Formal analysis, Methodology, Writing – review & editing
Affiliation Greenwood Genetic Center, Greenwood, SC, United States of America
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Barb DuPont,
Roles Conceptualization, Methodology, Supervision, Writing – review & editing
Affiliation Greenwood Genetic Center, Greenwood, SC, United States of America
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Curtis Rogers,
Roles Supervision, Validation, Visualization, Writing – review & editing
Affiliation Greenwood Genetic Center, Greenwood, SC, United States of America
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Sara Sarasua,
Roles Conceptualization, Data curation, Supervision, Writing – original draft, Writing – review & editing
Affiliation School of Nursing, Healthcare Genetics Program, Clemson University, Clemson, SC, United States of America
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Katy Phelan,
Roles Conceptualization, Supervision, Writing – review & editing
Affiliation Genetics Laboratory, Florida Cancer Specialists and Research Institute, Fort Myers, FL, United States of America
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Cynthia Morton,
Roles Conceptualization, Formal analysis, Supervision, Writing – review & editing
Affiliations Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women’s Hospital, Boston, MA, United States of America, Harvard Medical School, Boston, MA, United States of America, Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, United States of America, Department of Pathology, Brigham and Women’s Hospital, Boston, MA, United States of America, Division of Human Communication, Development and Hearing, School of Biological Sciences, Manchester Academic Health Science Center, Manchester, United Kingdom
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Luigi Boccuto
Roles Conceptualization, Data curation, Project administration, Supervision, Validation, Writing – original draft, Writing – review & editing
* E-mail: lboccut@clemson.edu
Affiliations Greenwood Genetic Center, Greenwood, SC, United States of America, School of Nursing, College of Behavioral, Social and Health Sciences, Clemson University, Clemson, SC, United States of America
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Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome
- Sujata Srikanth,
- Lavanya Jain,
- Cinthya Zepeda-Mendoza,
- Lauren Cascio,
- Kelly Jones,
- Rini Pauly,
- Barb DuPont,
- Curtis Rogers,
- Sara Sarasua,
- Katy Phelan
- Published: July 6, 2021
- https://doi.org/10.1371/journal.pone.0253859