[HTML][HTML] Leveraging large genomic datasets to illuminate the pathobiology of autism spectrum disorders
Abstract “Big data” approaches in the form of large-scale human genomic studies have led
to striking advances in autism spectrum disorder (ASD) genetics. Similar to many other …
to striking advances in autism spectrum disorder (ASD) genetics. Similar to many other …
[HTML][HTML] Single-cell long-read sequencing in human cerebral organoids uncovers cell-type-specific and autism-associated exons
Dysregulation of alternative splicing has been repeatedly associated with
neurodevelopmental disorders, but the extent of cell-type-specific splicing in human neural …
neurodevelopmental disorders, but the extent of cell-type-specific splicing in human neural …
Rare variant association testing in the non-coding genome
The development of next-generation sequencing technologies has opened-up some new
possibilities to explore the contribution of genetic variants to human diseases and in …
possibilities to explore the contribution of genetic variants to human diseases and in …
[HTML][HTML] Identification of clinically actionable variants from genome sequencing of families with congenital heart disease
Purpose Congenital heart disease (CHD) affects up to 1% of live births. However, a genetic
diagnosis is not made in most cases. The purpose of this study was to assess the outcomes …
diagnosis is not made in most cases. The purpose of this study was to assess the outcomes …
[HTML][HTML] Identification of putative causal loci in whole-genome sequencing data via knockoff statistics
The analysis of whole-genome sequencing studies is challenging due to the large number
of rare variants in noncoding regions and the lack of natural units for testing. We propose a …
of rare variants in noncoding regions and the lack of natural units for testing. We propose a …
[HTML][HTML] Computational genomics in the era of precision medicine: applications to variant analysis and gene therapy
Rapid methodological advances in statistical and computational genomics have enabled
researchers to better identify and interpret both rare and common variants responsible for …
researchers to better identify and interpret both rare and common variants responsible for …
[HTML][HTML] ZMIZ1 variants cause a syndromic neurodevelopmental disorder
R Carapito, EL Ivanova, A Morlon, L Meng… - The American Journal of …, 2019 - cell.com
ZMIZ1 is a coactivator of several transcription factors, including p53, the androgen receptor,
and NOTCH1. Here, we report 19 subjects with intellectual disability and developmental …
and NOTCH1. Here, we report 19 subjects with intellectual disability and developmental …
[HTML][HTML] Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic …
E Leonardi, E Bettella, MF Pelizza… - Frontiers in …, 2020 - frontiersin.org
SETBP1 mutations are associated with the Schinzel-Giedion syndrome (SGS), characterized
by profound neurodevelopmental delay, typical facial features, and multiple congenital …
by profound neurodevelopmental delay, typical facial features, and multiple congenital …
[HTML][HTML] Tanc2-mediated mTOR inhibition balances mTORC1/2 signaling in the developing mouse brain and human neurons
Abstract mTOR signaling, involving mTORC1 and mTORC2 complexes, critically regulates
neural development and is implicated in various brain disorders. However, we do not fully …
neural development and is implicated in various brain disorders. However, we do not fully …
[HTML][HTML] Zmiz1 is a novel regulator of lymphatic endothelial cell gene expression and function
R KC, NR Patel, A Shenoy, JP Scallan, MY Chiang… - Plos one, 2024 - journals.plos.org
Zinc Finger MIZ-Type Containing 1 (Zmiz1), also known as ZIMP10 or RAI17, is a
transcription cofactor and member of the Protein Inhibitor of Activated STAT (PIAS) family of …
transcription cofactor and member of the Protein Inhibitor of Activated STAT (PIAS) family of …