Integration of genetic, transcriptomic, and clinical data provides insight into 16p11. 2 and 22q11. 2 CNV genes

M Vysotskiy, X Zhong, TW Miller-Fleming, D Zhou… - Genome Medicine, 2021 - Springer
Background Deletions and duplications of the multigenic 16p11. 2 and 22q11. 2 copy
number variant (CNV) regions are associated with brain-related disorders including …

Network effects of the 15q13. 3 microdeletion on the transcriptome and epigenome in human-induced neurons

S Zhang, X Zhang, C Purmann, S Ma, A Shrestha… - Biological …, 2021 - Elsevier
Abstract Background The 15q13. 3 microdeletion is associated with several neuropsychiatric
disorders, including autism and schizophrenia. Previous association and functional studies …

Combinations of genes at the 16p11. 2 and 22q11. 2 CNVs contribute to neurobehavioral traits

M Vysotskiy… - PLoS …, 2023 - journals.plos.org
The 16p11. 2 and 22q11. 2 copy number variants (CNVs) are associated with
neurobehavioral traits including autism spectrum disorder (ASD), schizophrenia, bipolar …

Complete and haplotype-specific sequence assembly of segmental duplication-mediated genome rearrangements using targeted CRISPR-targeted ultra-long read …

B Zhou, GW Shin, SU Greer, L Vervoort, Y Huang… - bioRxiv, 2020 - biorxiv.org
We have developed a generally applicable method based on CRISPR/Cas9-targeted ultra-
long read sequencing (CTLR-Seq) to completely and haplotype-specifically resolve, at base …