Rare Pathogenic Variants Identified in Whole Exome Sequencing of Monozygotic Twins With Autism Spectrum Disorder
Ayyappan Anitha
1
,
M. Banerjee
2
,
Ismail Thanseem
3
,
Anil Prakash
2
,
Nisha M L
4
,
P.S. Sumitha
3
,
Mary Iype
5
,
Sanjeev V. Thomas
6
1
Department of Neurogenetics, Institute for Communicative and Cognitive Neurosciences (ICCONS), Palakkad, Kerala, India. Electronic address: anitha.a72@gmail.com.
|
3
Department of Neurogenetics, Institute for Communicative and Cognitive Neurosciences (ICCONS), Palakkad, Kerala, India.
|
4
Department of Audiology and Speech Language Pathology (ASLP), ICCONS, Palakkad, Kerala, India.
|
6
Department of Neurology, ICCONS, Thiruvananthapuram, Kerala, India; Department of Neurology, ICCONS, Shoranur, Kerala, India.
|
Publication type: Journal Article
Publication date: 2024-09-01
scimago Q1
wos Q2
SJR: 0.825
CiteScore: 3.9
Impact factor: 2.1
ISSN: 08878994, 18735150
PubMed ID:
39038432
Abstract
Autism spectrum disorder (ASD) is a childhood-onset complex neurodevelopmental disorder characterized by problems with communication and social interaction and restricted, repetitive, stereotyped behavior. The prevalence of ASD is one in 36 children. The genetic architecture of ASD is complex in spite of its high heritability. To identify the potential candidate genes of ASD, we carried out a comprehensive genetic study of monozygotic (MZ) twins concordant or discordant for ASD.
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Anitha A. et al. Rare Pathogenic Variants Identified in Whole Exome Sequencing of Monozygotic Twins With Autism Spectrum Disorder // Pediatric Neurology. 2024. Vol. 158. p. 113-123.
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Anitha A., Banerjee M., Thanseem I., Prakash A., L N. M., Sumitha P., Iype M., Thomas S. V. Rare Pathogenic Variants Identified in Whole Exome Sequencing of Monozygotic Twins With Autism Spectrum Disorder // Pediatric Neurology. 2024. Vol. 158. p. 113-123.
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TY - JOUR
DO - 10.1016/j.pediatrneurol.2024.06.003
UR - https://linkinghub.elsevier.com/retrieve/pii/S0887899424002285
TI - Rare Pathogenic Variants Identified in Whole Exome Sequencing of Monozygotic Twins With Autism Spectrum Disorder
T2 - Pediatric Neurology
AU - Anitha, Ayyappan
AU - Banerjee, M.
AU - Thanseem, Ismail
AU - Prakash, Anil
AU - L, Nisha M
AU - Sumitha, P.S.
AU - Iype, Mary
AU - Thomas, Sanjeev V.
PY - 2024
DA - 2024/09/01
PB - Elsevier
SP - 113-123
VL - 158
PMID - 39038432
SN - 0887-8994
SN - 1873-5150
ER -
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BibTex (up to 50 authors)
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@article{2024_Anitha,
author = {Ayyappan Anitha and M. Banerjee and Ismail Thanseem and Anil Prakash and Nisha M L and P.S. Sumitha and Mary Iype and Sanjeev V. Thomas},
title = {Rare Pathogenic Variants Identified in Whole Exome Sequencing of Monozygotic Twins With Autism Spectrum Disorder},
journal = {Pediatric Neurology},
year = {2024},
volume = {158},
publisher = {Elsevier},
month = {sep},
url = {https://linkinghub.elsevier.com/retrieve/pii/S0887899424002285},
pages = {113--123},
doi = {10.1016/j.pediatrneurol.2024.06.003}
}
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