@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}
}

@article{Shuib201777,
title = {Duplication 17p11.2 (Potocki-Lupski syndrome) in a child with developmental delay},
author = {S Shuib and N N Saaid and Z Zakaria and J Ismail and Z Abdul Latiff},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85037028880&partnerID=40&md5=624b87d1e9ebac2d1bf66b4d30c0f6e9},
issn = {01268635},
year = {2017},
date = {2017-01-01},
journal = {Malaysian Journal of Pathology},
volume = {39},
number = {1},
pages = {77-81},
publisher = {Malaysian Society of Pathologists},
abstract = {Potocki-Lupski syndrome (PTLS), also known as duplication 17p11.2 syndrome, trisomy 17p11.2 or dup(17)(p11.2p11.2) syndrome, is a developmental disorder and a rare contiguous gene syndrome affecting 1 in 20,000 live births. Among the key features of such patients are autism spectrum disorder, learning disabilities, developmental delay, attention-deficit disorder, infantile hypotonia and cardiovascular abnormalities. Previous studies using microarray identified variations in the size and extent of the duplicated region of chromosome 17p11.2. However, there are a few genes which are considered as candidates for PTLS which include RAI1, SREBF1, DRG2, LLGL1, SHMT1 and ZFP179. In this report, we investigated a case of a 3-year-old girl who has developmental delay. Her chromosome analysis showed a normal karyotype (46,XX). Analysis using array CGH (4X44 K, Agilent USA) identified an ~4.2 Mb de novo duplication in chromosome 17p11.2. The result was confirmed by fluorescence in situ hybridization (FISH) using probes in the critical PTLS region. This report demonstrates the importance of microarray and FISH in the diagnosis of PTLS. © 2017, Malaysian Society of Pathologists. All rights reserved.},
note = {cited By 0},
keywords = {Abnormalities, Agarose, Article, Autism, Autism Spectrum Disorders, Blood Culture, Case Report, Children, Chromosome 17, Chromosome Analysis, Chromosome Disorder, Chromosome Duplication, Chromosomes, Clinical Article, Comparative Genomic Hybridization, Developmental Delay, Electrophoresis, Female, Fluorescence, Fluorescence in Situ Hybridization, Gene, Gene Identification, Genetics, Genomic DNA, Human, In Situ Hybridization, Lymphocyte Culture, Microarray Analysis, Multiple, Multiple Malformation Syndrome, Pair 17, Phenotype, Potocki Lupski Syndrome, Preschool, Preschool Child, Procedures, RAI1 Gene, Ultraviolet Spectrophotometry},
pubstate = {published},
tppubtype = {article}
}