Genomic Insights from a Deeply Phenotyped Highly Consanguineous Neurodevelopmental Disorders Cohort

The genetic underpinning of neurodevelopmental disorders (NDDs) in diverse ethnic populations, especially those with high rates of consanguinity,

oFlowSeq: a quantitative approach to identify protein coding mutations

Cerebral organoids are comprised of diverse cell types found in the developing human brain, and can be leveraged in the identification of critical cell types

Integrative analysis of long isoform sequencing and functional data

Generation of human induced pluripotent stem cells (iPSCs) through reprogramming was a transformational change in the field of regenerative medicine that led to new

Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is a severe rare neuromuscular disorder caused by mutations in the X-linked dystrophin gene. Several mutations have been identified,

Cell-specific MAPT gene expression is preserved in neuronal

Microtubule-associated protein tau (MAPT) aggregates in neurons, astrocytes and oligodendrocytes in a number of neurodegenerative diseases,

Expanding deep phenotypic spectrum associated with atypical pathogenic structural

The 15q11-q13 region is a genetic locus with genes subject to genomic imprinting, significantly influencing neurodevelopment.

SNCA and TPPP transcripts increase in oligodendroglial cytoplasmic inclusions

Multiple system atrophy (MSA) is characterized by glial cytoplasmic inclusions (GCIs) containing aggregated α-synuclein (α-syn) in oligodendrocytes

Neuronal SNCA transcription during Lewy body formation

Misfolded α-synuclein (α-syn) is believed to contribute to neurodegeneration in Lewy body disease (LBD) based on considerable evidence including a gene-dosage

Lack of ethnic diversity in single-cell transcriptomics

Perhaps one of the most revolutionary next generation sequencing technologies is single-cell (SC) transcriptomics, which was recognized by Nature in 2013 as the method of the year.

Construction of copy number variation landscape

Copy number variations (CNVs) play a critical role in the pathogenesis of neurodevelopmental disorders (NDD) among children.

Overlapping pathogenic de novo CNVs

Neurodevelopmental disorders (NDDs) and congenital anomalies (CAs) are rare disorders with complex etiology. In this study, we investigated the less understood genomic

Single-cell transcriptome identifies FCGR3B

Understanding host cell heterogeneity is critical for unraveling disease mechanism. Utilizing large-scale single-cell transcriptomics, we analyzed multiple tissue spec

Single-cell transcriptome identifies molecular

Understanding host cell heterogeneity is critical for unraveling disease mechanism. Utilizing large-scale single-cell transcriptomics, we analyzed multiple tissue specimens

Analyzing single cell transcriptome data

We describe the protocol for identifying COVID-19 severity specific cell types and their regulatory marker genes using single-cell transcriptomics data. We construct COVID-19 comorbid

Mutational Landscape of Autism Spectrum

Rare post-zygotic mutations in the brain are now known to contribute to several neurodevelopmental disorders, including autism spectrum disorder (ASD). However, due to the limited availability of brain

Whole exome sequencing uncovered highly penetrant

Collectively, rare genetic diseases affect a significant number of individuals worldwide. In this study, we have conducted whole-exome sequencing (WES) and identified underlying pathogenic or likely

Detection of copy number variants and genes

Copy number variations (CNVs) are highly implicated in the etiology of neurodevelopmental disorders (NDDs), and chromosomal microarray analysis (CMA) has been recommended as a first-tier test for

Curcumin improves D-galactose and normal-aging

Aging-induced memory impairment is closely associated with oxidative stress. D-Galactose (D-gal) evokes severe oxidative stress and mimics normal aging in animals. Curcumin, a natural flavonoid

NeuroSCORE is a genome-wide omics-based

To identify candidate disease genes of central nervous system (CNS) phenotypes, we created the Neurogenetic Systematic Correlation of Omics-Related Evidence (NeuroSCORE)