A5083380159- Autism Spectrum Disorder Research
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Birth, Development, and Health
- Epilepsy research and treatment
- Pregnancy and preeclampsia studies
- RNA Research and Splicing
- RNA and protein synthesis mechanisms
- Congenital heart defects research
- Neuroscience and Neuropharmacology Research
- Mitochondrial Function and Pathology
- Cholesterol and Lipid Metabolism
- EEG and Brain-Computer Interfaces
- Fatty Acid Research and Health
- Single-cell and spatial transcriptomics
- Assisted Reproductive Technology and Twin Pregnancy
- Chromosomal and Genetic Variations
- Wastewater Treatment and Nitrogen Removal
- Genetic Associations and Epidemiology
- Congenital Diaphragmatic Hernia Studies
- Circadian rhythm and melatonin
- Olfactory and Sensory Function Studies
- Bioinformatics and Genomic Networks
- Algal biology and biofuel production
University of California, San Francisco
2017-2025
First Affiliated Hospital of Xi'an Jiaotong University
2020-2025
University of Oxford
2023-2025
Xi'an Jiaotong University
2024-2025
China Agricultural University
2025
Shenzhen University Health Science Center
2025
Qilu Hospital of Shandong University
2019-2024
Wuhan Institute of Technology
2023
South China University of Technology
2021
Guangzhou Medical University
2021
High-throughput experimental technologies often identify dozens to hundreds of genes related to, or changed in, a biological pathological process. From these one wants pathways that may be involved and diseases implicated. Here, we report web server, KOBAS 2.0, which annotates an input set with putative disease relationships based on mapping known annotations. It allows for both ID cross-species sequence similarity mapping. then performs statistical tests statistically significantly enriched...
INTRODUCTION The DNA of protein-coding genes is transcribed into mRNA, which translated proteins. “coding genome” describes the that contains information to make these proteins and represents ~1.5% human genome. Newly arising de novo mutations (variants observed in a child but not either parent) coding genome contribute numerous childhood developmental disorders, including autism spectrum disorder (ASD). Discovery effects aided by triplet code enables functional impact many be readily...
Abstract Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily protein-coding genes 1 . Large genome-sequenced cohorts are improving our ability to discover new diagnoses in the non-coding genome. Here we identify RNA RNU4-2 as a syndromic NDD gene. encodes U4 small nuclear (snRNA), which is critical component U4/U6.U5 tri-snRNP complex major spliceosome 2 We an 18 base pair region mapping two structural elements...
Whole-exome sequencing (WES) studies have demonstrated the contribution of de novo loss-of-function single-nucleotide variants (SNVs) to autism spectrum disorder (ASD). However, challenges in reliable detection insertions and deletions (indels) limited inclusion these prior analyses. By applying a robust indel method WES data from 787 ASD families (2,963 individuals), we demonstrate that frameshift indels contribute risk (OR = 1.6; 95% CI 1.0–2.7; p 0.03), are more common female probands (p...
Gene expression levels vary across developmental stage, cell type, and region in the brain. Genomic variants also contribute to variation expression, some neuropsychiatric disorder loci may exert their effects through this mechanism. To investigate these relationships, we present BrainVar, a unique resource of paired whole-genome bulk tissue RNA sequencing from dorsolateral prefrontal cortex 176 individuals prenatal postnatal development. Here identify common that alter gene (expression...
Highlights•Recurrent de novo variants identify a new high-confidence TD risk gene: CELSR3•Genes involved in cell polarity are more likely to be disrupted by variants•De sequence may carry simplex families, female probands•De CNVs occur 2 3 times often probands than matched controlsSummaryWe previously established the contribution of damaging Tourette disorder (TD) through whole-exome sequencing 511 trios. Here, we an additional 291 trios and analyze combined set 802 We observe...
The higher-order structure of genes and other features biological sequences can be described by means formal grammars. These grammars then used general-purpose parsers to detect assemble such structures syntactic pattern recognition. We describe a grammar parser for eukaryotic protein-encodillg genes, which some measures is as effective current connectionist combinatorial algorithms in predicting gene sequence database entries. Parameters the rules are optimized several different species,...
No AccessJournal of UrologyAdult Urology1 Dec 2015Variation in Surgical Margin Status by Approach among Patients Undergoing Partial Nephrectomy for Small Renal Masses William Tabayoyong, Robert Abouassaly, Jonathan E. Kiechle, Edward Cherullo, Neal J. Meropol, Nilay D. Shah, Shan Dong, R. Houston Thompson, Marc C. Smaldone, Hui Zhu, Sarah Ialacci, and Simon P. Kim TabayoyongWilliam Tabayoyong Urology Institute, University Hospitals Case Medical Center, Western Reserve University, Cleveland,...
Summary We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n=35,584 total samples, 11,986 with ASD). Using an enhanced Bayesian framework integrate de novo and case-control rare variation, we identify 102 risk genes at a false discovery rate ≤ 0.1. Of these genes, 49 show higher frequencies disruptive variants in individuals ascertained for severe neurodevelopmental delay, while 53 ASD; comparing ASD cases mutations groups reveals phenotypic differences....
Abstract Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily protein-coding genes 1 . Increasingly, large genome-sequenced cohorts are improving our ability to discover new diagnoses in the non-coding genome. Here, we identify RNA RNU4-2 as a novel syndromic NDD gene. encodes U4 small nuclear (snRNA), which is critical component U4/U6.U5 tri-snRNP complex major spliceosome 2 We an 18 bp region mapping two...
Heterozygous variants in SLC6A1, encoding the GAT-1 GABA transporter, are associated with seizures, developmental delay, and autism. The majority of affected individuals carry missense variants, many which recurrent germline de novo mutations, raising possibility gain-of-function or dominant-negative effects. To understand functional consequences, we performed an vitro uptake assay for 213 unique including 24 control variants. De consistently resulted a decrease uptake, keeping...
A 4:1 male to female sex bias has consistently been observed in autism spectrum disorder (ASD). Epidemiological and genetic studies suggest a protective effect (FPE) may account for part of this bias; however, the mechanism such protection is unknown. Quantitative assessment ASD symptoms using Social Responsiveness Scale (SRS) shows bimodal distribution unique females multiplex families. This leads hypothesis that single, common locus on chromosome X might mediate FPE produce bias. Such...
ABSTRACT Individuals with autism spectrum disorder (ASD) or related neurodevelopmental disorders (NDDs) often carry disruptive mutations in genes that are depleted of functional variation the broader population. We build upon this observation and exome sequencing from 154,842 individuals to explore allelic diversity rare protein-coding contributing risk for ASD NDDs. Using an integrative statistical model, we jointly analyzed protein-truncating variants (PTVs), damaging missense variants,...
Missense variants that alter a single amino acid in the encoded protein contribute to many human disorders but pose substantial challenge interpretation. Though these can be reliably identified through sequencing, distinguishing clinically significant ones remains difficult, such "Variants of Unknown Significance" outnumber those classified as "Pathogenic" or "Likely Pathogenic." Numerous
The significance of maternal cholesterol transporting to the fetus under normal as well pathological circumstances is less understood. objective this study was observe effects hypercholesterolemia on placental transportation. Human full-time placenta, and venous cord blood were sampled at delivery from pregnant women with serum total (TC) concentrations third trimester higher than 7.25 mM (n = 19) TC 19). Serum lipids expression genes related transportation measured by western blot or...
Journal Article Optimization of Chlorella vulgaris and bioflocculant‐producing bacteria co‐culture: enhancing microalgae harvesting lipid content Get access Y. Wang, Wang Key Laboratory Groundwater Resources Environment Ministry Education Jilin University Changchun China Search for other works by this author on: Oxford Academic Google Scholar Yang, Yang F. Ma, Ma State Urban Water Resource (SKLUWRE) Harbin Institute Technology (HIT) L. Xuan, Xuan Xu, Xu H. Huo, Huo School Northeast Normal...