Article

NeuroTri2-VISDOT: An open-access tool to harness the power of second trimester human single cell data to inform models of Mendelian neurodevelopmental disorders

2024-02-04

Abstract excerpt

Whole exome and genome sequencing, coupled with refined bioinformatic pipelines, have enabled improved diagnostic yields for individuals with Mendelian conditions and have led to the rapid identification of novel syndromes. For many Mendelian neurodevelopmental disorders (NDDs), there is a lack of pre-existing model systems for mechanistic work. Thus, it is critical for translational researchers to have an accessi...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: a1f23f02-3dc0-5680-9c18-949ef95aa98a
DOI: 10.1101/2024.02.01.578438

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

NeuroTri2-VISDOT: An open-access tool to harness the power of second trimester human single cell data to inform models of Mendelian neurodevelopmental disordersDOI 10.1101/2024.02.01.578438Read

Neurodevelopmental disorders-high-resolution rethinking of disease modeling.Semantic proximity Read

An integrative single-cell atlas to explore the cellular and temporal specificity of neurological disorder genes during human brain developmentSemantic proximity Read

Genome-wide prediction of dominant and recessive neurodevelopmental disorder risk genesSemantic proximity Read

A single cell multi-omic analysis identifies molecular and gene-regulatory mechanisms dysregulated in the developing Down syndrome neocortexSemantic proximity Read

A single-cell multiomic analysis identifies molecular and gene-regulatory mechanisms dysregulated in developing Down syndrome neocortexSemantic proximity Read

Unlocking disease associations during prefrontal cortex development with scRNAseqSemantic proximity Read

Comprehensive cell atlas of the first-trimester developing human brainSemantic proximity Read

Multiplexing cortical brain organoids for the longitudinal dissection of developmental traits at single cell resolutionSemantic proximity Read

Deciphering Cell-Type and Temporal-Specific Matrisome Expression Signatures in Human Cortical Development and Neurodevelopmental Disorders via scRNA-Seq Meta-AnalysisSemantic proximity Read

Single cell atlas of trisomy 21 cerebral cortexSemantic proximity Read

Cell type-specific contextualisation of the human phenome: towards the systematic treatment of all rare diseasesSemantic proximity Read

A single cell transcriptomic analysis of human neocortical developmentSemantic proximity Read