Gal Meiri

Rare variation illuminates the distinct and pleiotropic genetic architecture of autism across neuropsychiatric traits

The paper identifies 253 autism-associated genes using rare variation from 62,429 individuals and finds pleiotropy across physiological systems and developmental disorders.

A Novel Phenotype-based Approach for Prioritizing Candidate Genetic Variants for Autism Spectrum Disorder.

This paper introduces a phenotype-based method to prioritize genetic variants in ASD, improving diagnostic yield and identifying novel variants in unresolved cases.

Using computer vision to quantify facial expressions of children with autism during naturalistic social interactions

This study evaluates three facial analysis algorithms for quantifying facial expressions in children with autism during social interactions, finding no group differences in expression quantity but significant algorithm variability.

Idiosyncratic pupil regulation in autistic children

This study uses pupillometry to show that autistic children have more variable and idiosyncratic pupil responses compared to typically developing children, with significant classification accuracy.

Genetic Elucidation of Ultrasonography Fetal Anomalies in Children with Autism Spectrum Disorder

This study identifies genetic variants associated with fetal ultrasound anomalies in children with autism spectrum disorder using whole exome sequencing and a bioinformatics pipeline.

Automated identification and quantification of stereotypical movements from video recordings of children with ASD

This paper introduces an AI algorithm to automatically identify and quantify stereotypical motor movements in children with ASD using video data, achieving high correlation with manual annotations.

AutScore- An integrative scoring approach for prioritization of ultra-rare autism spectrum disorder candidate variants from whole exome sequencing data

AutScore prioritizes ultra-rare ASD candidate variants from WES data by integrating pathogenicity, clinical relevance, and inheritance patterns, outperforming existing methods in detection accuracy.

Increased extra-axial cerebrospinal fluid and benign external hydrocephalus in early autism

The paper finds that ASD children under 2 years old have higher EA-CSF volumes and a higher prevalence of BEH compared to controls, suggesting a potential etiological link.

Comparison of three bioinformatics tools in the detection of ASD candidate variants from whole exome sequencing data

The paper compares three bioinformatics tools for detecting ASD candidate variants from whole-exome sequencing data and finds that combining tools improves detection.

Reduced sleep pressure in young children with autism

This study finds reduced sleep pressure in children with autism, as indicated by lower slow wave activity (SWA) during early sleep stages.

Children with autism observe social interactions in an idiosyncratic manner

The paper quantifies gaze idiosyncrasy in children with ASD and controls, finding it correlates with ASD severity and distinguishes ASD from controls more effectively than traditional measures.

Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

This study identifies 99 genes associated with autism spectrum disorder through large-scale exome sequencing, showing differences in mutation frequencies between ASD and severe neurodevelopmental delay groups.

Sleep problems are associated with hypersensitivity to touch in children with autism

This study finds that hypersensitivity to touch is strongly linked to sleep disturbances in children with autism, explaining 24% of the variance in sleep disturbance scores.