Identification of Rare Recurrent Copy Number Variants in High-Risk Autism Families and Their Prevalence in a Large ASD Population

Nori Matsunami; Dexter Hadley; Charles H. Hensel; G. Bryce Christensen; Cecilia Kim; Edward Frackelton; Kelly Thomas; Renata Pellegrino da Silva; Jeff Stevens; Lisa Baird; Brith Otterud; Karen Ho; Tena Varvil; Tami Leppert; Christophe G. Lambert; Mark Leppert; Hakon Hakonarson

doi:10.1371/journal.pone.0052239

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Research Article

Identification of Rare Recurrent Copy Number Variants in High-Risk Autism Families and Their Prevalence in a Large ASD Population

Nori Matsunami ,

Contributed equally to this work with: Nori Matsunami, Dexter Hadley, Charles H. Hensel

Affiliation Department of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America
⨯
Dexter Hadley ,

Contributed equally to this work with: Nori Matsunami, Dexter Hadley, Charles H. Hensel

Affiliation Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America
⨯
Charles H. Hensel ,

Contributed equally to this work with: Nori Matsunami, Dexter Hadley, Charles H. Hensel

Affiliation Lineagen, Inc., Salt Lake City, Utah, United States of America
⨯
G. Bryce Christensen,

Affiliation Golden Helix, Inc., Bozeman, Montana, United States of America
⨯
Cecilia Kim,

Affiliation Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America
⨯
Edward Frackelton,

Affiliation Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America
⨯
Kelly Thomas,

Affiliation Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America
⨯
Renata Pellegrino da Silva,

Affiliation Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America
⨯
Jeff Stevens,

Affiliation Department of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America
⨯
Lisa Baird,

Affiliation Department of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America
⨯
Brith Otterud,

Affiliation Department of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America
⨯
Karen Ho,

Affiliation Lineagen, Inc., Salt Lake City, Utah, United States of America
⨯
Tena Varvil,

Affiliation Department of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America
⨯
Tami Leppert,

Affiliation Department of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America
⨯
Christophe G. Lambert,

Affiliation Golden Helix, Inc., Bozeman, Montana, United States of America
⨯
Mark Leppert,

Affiliation Department of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America
⨯
[ ... ],
Hakon Hakonarson

* E-mail: hakonarson@email.chop.edu

Affiliations Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America, Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America
⨯
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Identification of Rare Recurrent Copy Number Variants in High-Risk Autism Families and Their Prevalence in a Large ASD Population

Nori Matsunami,
Dexter Hadley,
Charles H. Hensel,
G. Bryce Christensen,
Cecilia Kim,
Edward Frackelton,
Kelly Thomas,
Renata Pellegrino da Silva,
Jeff Stevens,
Lisa Baird

Published: January 14, 2013
https://doi.org/10.1371/journal.pone.0052239

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Media Coverage of This Article

Posted by PLOS_ONE_Group on 18 Jan 2013 at 23:27 GMT

The following article represents some of the media coverage that has occurred for this paper:

Publication: Outcome Magazine
Title: “24 New Autism-Related Gene Variants Identified: Study - Outcome Magazine”
http://www.omglobe.com/20...

Publication: Health Canal.com
Title: “Health News - U of Utah Researchers Improve Genetic Understanding of Autism”
http://www.healthcanal.co...

Publication: U.S. News Health
Title: “Researchers Link 25 New Gene Variants to Autism - US News and World Report”
http://health.usnews.com/...

Publication: Medical News Today
Title: “New Gene Variants Linked To Autism Discovered”
http://www.medicalnewstod...

Publication: Ivanhoe Newswire
Title: “Genes to Diagnose Autism? | Medical News and Health Information”
http://www.ivanhoe.com/ch...

Publication: Insider Medicine
Title: “New autism gene variants discovered”
http://www.insidermedicin...

Publication: The Stir
Title: “Autism Research Leads to Gene Discovery That May Help Diagnose & Treat Kids | The Stir”
http://thestir.cafemom.co...

Publication: South China Morning Post
Title: “Health bites | South China Morning Post”
http://www.scmp.com/lifes...

Publication: Forbes
Title: “Autism And Genetics: It's Complicated - Forbes”
http://www.forbes.com/sit...

Publication: CBS News
Title: “25 new gene variants linked to autism”
http://www.cbsnews.com/83...

Publication: Press Release
Title: “New Autism-Related Gene Variants Discovered | The Children's Hospital of Philadelphia”
http://www.chop.edu/news/...

Publication: News Medical
Title: “Study identifies 24 new copy number variants linked with autism”
http://www.news-medical.n...

Publication: PR Newswire
Title: “Lineagen Announces New Study Demonstrating Two-Fold Increase in Detection Rate of...”
http://www.prnewswire.com...

Publication: Salt Lake Tribune
Title: “University of Utah scientists find 24 new genetic markers for autism | The Salt Lake Tribune”
http://www.sltrib.com/slt...

Publication: Herald Online
Title: “PHILADELPHIA, Jan. 15, 2013: New Autism-Related Gene Variants Discovered | PRNewswire | Rock Hill Herald Online”
http://www.heraldonline.c...

Publication: Pharma Live
Title: “PharmaLive: Lineagen Announces New Study Demonstrating Two-Fold Increase in Detection Rate of Validated Genetic Variants in Individuals with Autism Spectrum Disorders”
http://www.pharmalive.com...

Publication: Digital Journal
Title: “New Autism-Related Gene Variants Discovered - Press Release”
http://www.digitaljournal...

Publication: TIME Health & Family
Title: “New Gene Variants Linked to Autism”
http://healthland.time.co...

Publication: Eureka Alert
Title: “New autism-related gene variants discovered”
http://www.eurekalert.org...

If you see any additional coverage of this paper in the press or blogosphere, please reply to this thread and add the link to the article.

Competing interests declared: PLOS ONE Staff

RE: Media Coverage of This Article

PLOS_ONE_Group replied to PLOS_ONE_Group on 25 Jan 2013 at 23:18 GMT

The following article represents some of the media coverage that has occurred for this paper:

Publication: Bio News
Title: “BioNews - Twenty-five genetic variants for autism discovered”
http://www.bionews.org.uk...

Publication: Emax Health
Title: “Studies Continue to Find Genetic Causes for Autism in the Search for a Cure”
http://www.emaxhealth.com...

If you see any additional coverage of this paper in the press or blogosphere, please reply to this thread and add the link to the article.

Competing interests declared: PLOS ONE Staff

RE: Media Coverage of This Article

PLOS_ONE_Group replied to PLOS_ONE_Group on 01 Feb 2013 at 22:53 GMT

The following article represents some of the media coverage that has occurred for this paper:

Publication: Genome Web
Title: “This Week in PLOS | The Daily Scan | GenomeWeb”
http://www.genomeweb.com/...

Publication: Emax Health
Title: “Studies Continue to Find Genetic Causes for Autism in the Search for a Cure”
http://www.emaxhealth.com...

If you see any additional coverage of this paper in the press or blogosphere, please reply to this thread and add the link to the article.

Competing interests declared: PLOS One Staff

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Identification of Rare Recurrent Copy Number Variants in High-Risk Autism Families and Their Prevalence in a Large ASD Population

Identification of Rare Recurrent Copy Number Variants in High-Risk Autism Families and Their Prevalence in a Large ASD Population

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Media Coverage of This Article

Posted by PLOS_ONE_Group on 18 Jan 2013 at 23:27 GMT

RE: Media Coverage of This Article

PLOS_ONE_Group replied to PLOS_ONE_Group on 25 Jan 2013 at 23:18 GMT

RE: Media Coverage of This Article

PLOS_ONE_Group replied to PLOS_ONE_Group on 01 Feb 2013 at 22:53 GMT