Analya Michaelovski

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.

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.

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.

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.