List of Publication by tag - National Autism Resource Centre (NARC)

List of Publications

There are numbers of autism related research can be found in Malaysia that generally focus on the ASD, learning disorder, communication aids, therapy and many more. The list of publications is provided below:

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2017

Hnoonual, A; Thammachote, W; Tim-Aroon, T; Rojnueangnit, K; Hansakunachai, T; Sombuntham, T; Roongpraiwan, R; Worachotekamjorn, J; Chuthapisith, J; Fucharoen, S; Wattanasirichaigoon, D; Ruangdaraganon, N; Limprasert, P; Jinawath, N

Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder Journal Article

Scientific Reports, 7 (1), 2017, ISSN: 20452322, (cited By 6).

Abstract | Links | BibTeX | Tags: Adolescent, Autism, Autism Spectrum Disorders, Children, Chromosomal Mapping, Chromosome Mapping, Cohort Analysis, Cohort Studies, Copy Number Variation, DNA Copy Number Variations, Female, Genetic Predisposition, Genetic Predisposition to Disease, Genetics, Human, Infant, Male, Membrane Protein, Membrane Proteins, Microarray Analysis, Polymorphism, Preschool, Preschool Child, Procedures, SERINC2 Protein, Single Nucleotide, Single Nucleotide Polymorphism

@article{Hnoonual2017,
title = {Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder},
author = {A Hnoonual and W Thammachote and T Tim-Aroon and K Rojnueangnit and T Hansakunachai and T Sombuntham and R Roongpraiwan and J Worachotekamjorn and J Chuthapisith and S Fucharoen and D Wattanasirichaigoon and N Ruangdaraganon and P Limprasert and N Jinawath},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85029864969&doi=10.1038%2fs41598-017-12317-3&partnerID=40&md5=3c1b6a0c064665aab8ace8e8f58c2b01},
doi = {10.1038/s41598-017-12317-3},
issn = {20452322},
year = {2017},
date = {2017-01-01},
journal = {Scientific Reports},
volume = {7},
number = {1},
publisher = {Nature Publishing Group},
abstract = {Chromosomal microarray (CMA) is now recognized as the first-tier genetic test for detection of copy number variations (CNVs) in patients with autism spectrum disorder (ASD). The aims of this study were to identify known and novel ASD associated-CNVs and to evaluate the diagnostic yield of CMA in Thai patients with ASD. The Infinium CytoSNP-850K BeadChip was used to detect CNVs in 114 Thai patients comprised of 68 retrospective ASD patients (group 1) with the use of CMA as a second line test and 46 prospective ASD and developmental delay patients (group 2) with the use of CMA as the first-tier test. We identified 7 (6.1%) pathogenic CNVs and 22 (19.3%) variants of uncertain clinical significance (VOUS). A total of 29 patients with pathogenic CNVs and VOUS were found in 22% (15/68) and 30.4% (14/46) of the patients in groups 1 and 2, respectively. The difference in detected CNV frequencies between the 2 groups was not statistically significant (Chi square = 1.02},
note = {cited By 6},
keywords = {Adolescent, Autism, Autism Spectrum Disorders, Children, Chromosomal Mapping, Chromosome Mapping, Cohort Analysis, Cohort Studies, Copy Number Variation, DNA Copy Number Variations, Female, Genetic Predisposition, Genetic Predisposition to Disease, Genetics, Human, Infant, Male, Membrane Protein, Membrane Proteins, Microarray Analysis, Polymorphism, Preschool, Preschool Child, Procedures, SERINC2 Protein, Single Nucleotide, Single Nucleotide Polymorphism},
pubstate = {published},
tppubtype = {article}
}