Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing

American Journal of Human Genetics

Volumn 93, Issue 2, 2013, Pages 249-263

  Jiang, Yong Hui ^a   Yuen, Ryan K C ^b   Jin, Xin ^c,d,e   Wang, Mingbang ^c   Chen, Nong ^c   Wu, Xueli ^c   Ju, Jia ^c   Mei, Junpu ^c   Shi, Yujian ^c   He, Mingze ^c   Wang, Guangbiao ^c   Liang, Jieqin ^c   Wang, Zhe ^c   Cao, Dandan ^c   Carter, Melissa T ^f   Chrysler, Christina ^g   Drmic, Irene E ^g   Howe, Jennifer L ^b   Lau, Lynette ^b   Marshall, Christian R ^b,h   Merico, Daniele ^b   Nalpathamkalam, Thomas ^b   Thiruvahindrapuram, Bhooma ^b   Thompson, Ann ^g   Uddin, Mohammed ^b   Walker, Susan ^b   Luo, Jun ⁱ   Anagnostou, Evdokia ^j   Zwaigenbaum, Lonnie ^k   Ring, Robert H ^l   Wang, Jian ^c   Lajonchere, Clara ^l   Wang, Jun ^c,m,n,o,p   Shih, Andy ^l   Szatmari, Peter ^g   Yang, Huanming ^c   Dawson, Geraldine ^l,q   Li, Yingrui ^c   Scherer, Stephen W ^b,h   more..

^a DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c BGI SHENZHEN   (China)

^d CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^e SOUTH CHINA UNIVERSITY OF TECHNOLOGY   (China)

^f HOSPITAL FOR SICK CHILDREN   (Canada)

^g MCMASTER UNIVERSITY   (Canada)

^h UNIVERSITY OF TORONTO   (Canada)

ⁱ National Supercomputer Center in Tianjin   (China)

^j University of Toronto   (Canada)

^k UNIVERSITY OF ALBERTA   (Canada)

^l Autism Speaks Inc   (United States)

^m UNIVERSITY OF COPENHAGEN   (Denmark)

ⁿ Capital Region   (Denmark)

^o KING ABDULAZIZ UNIVERSITY   (Saudi Arabia)

^p AARHUS UNIVERSITY   (Denmark)

^q UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARHGEF6 PROTEIN; BCORL1 PROTEIN; CAPRIN1 PROTEIN; CHD7 PROTEIN; DMD PROTEIN; DNA METHYLTRANSFERASE 3A; FRAGILE X MENTAL RETARDATION PROTEIN; GENOMIC DNA; POTASSIUM CHANNEL KCNQ2; PROTEIN; SODIUM CHANNEL NAV1.2; UBIQUITIN; UNCLASSIFIED DRUG; VASOACTIVE INTESTINAL POLYPEPTIDE; WWC3 PROTEIN; ZC3H12B PROTEIN;

ALLELE; ARTICLE; AUTISM; CLINICAL ARTICLE; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE; HUMAN; INDEL MUTATION; LOSS OF FUNCTION MUTATION; MACHINE LEARNING; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; FEMALE; GENETIC HETEROGENEITY; GENETIC PREDISPOSITION TO DISEASE; GENOME; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MUTATION; PEDIGREE;

EID: 84881664021     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.06.012     Document Type: Article

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