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

PLoS ONE

Volumn 8, Issue 1, 2013, Pages

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

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c Lineagen Inc   (United States)

^d GOLDEN HELIX INC   (United States)

^e UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTISM; CHILD; CONTROLLED STUDY; COPY NUMBER VARIATION; DISEASE ASSOCIATION; FAMILY ASSESSMENT; FAMILY STUDY; FEMALE; GENE FREQUENCY; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; HIGH RISK POPULATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MOLECULAR PROBE; PEDIGREE ANALYSIS; POPULATION GENETICS; PREVALENCE; SINGLE NUCLEOTIDE POLYMORPHISM;

AUTISTIC DISORDER; CASE-CONTROL STUDIES; CHILD; CHROMOSOMES, HUMAN, PAIR 15; DNA COPY NUMBER VARIATIONS; FAMILY; FEMALE; GENE REGULATORY NETWORKS; GENETIC LOCI; GENOME, HUMAN; HUMANS; MALE; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PREVALENCE; REPRODUCIBILITY OF RESULTS; RISK FACTORS; UTAH;

EID: 84872318561     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0052239     Document Type: Article

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