A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders

A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders

<div><p>Genome-wide chromosomal microarray is extensively used to detect copy number variations (CNVs), which can diagnose microdeletion and microduplication syndromes. These small unbalanced chromosomal structural rearrangements ranging from 1 kb to 10 Mb comprise up to 15% of human mut...

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Bibliographic Details
Main Author: Afif Ben-Mahmoud (13913550) (author)
Other Authors: Kyung Ran Jun (11630248) (author), Vijay Gupta (209146) (author), Pinang Shastri (13913553) (author), Alberto de la Fuente (360936) (author), Yongsoo Park (761850) (author), Kyung Chul Shin (13913556) (author), Chong Ae Kim (7503338) (author), Aparecido Divino da Cruz (9569256) (author), Irene Plaza Pinto (9569241) (author), Lysa Bernardes Minasi (12368821) (author), Alex Silva da Cruz (18300820) (author), Laurence Faivre (397333) (author), Patrick Callier (397343) (author), Caroline Racine (11233485) (author), Lawrence C. Layman (13913559) (author), Il-Keun Kong (85884) (author), Cheol-Hee Kim (36752) (author), Woo-Yang Kim (206701) (author), Hyung-Goo Kim (728597) (author)
Published: 2022
Subjects:
Biomedical and clinical sciences
Neurosciences
1p13.3 deletion
intellectual disability
autism
VAV3
WDR47
ELAPOR1
GSTM5
LRIF1
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