Jacob A. S. Vorstman

The paper describes the development of a harmonized multisite MRI protocol for pediatric brain imaging and validates its cross-site consistency.

The paper curates 222 genes associated with autism spectrum disorder (ASD) using the EAGLE framework, identifying 78 with definitive evidence and highlighting differential expression patterns between ASD and broader neurodevelopmental disorders.

The paper examines how gene dosage, polygenic background, and environment influence complex traits like height and BMI using large-scale data from multiple cohorts.

The paper re-evaluates genome-wide significance thresholds for low-frequency variants in autism, identifying novel variants and their functional roles.

The paper evaluates the role of compound heterozygous deletion events in autism by analyzing 9,766 families and finds modest enrichment of rare DelCH events in autistic individuals.

EAGLE-AI automates gene-autism linkage evidence extraction and scoring with high accuracy, though challenges remain in handling unscreened papers and supplementary materials.

The paper develops predictive models for intellectual disability in autistic children by integrating genetic variants and developmental milestones, achieving an AUC ROC of 0.65 and identifying 10% of ID cases.

The paper reviews phenotype reporting in genetic disorders and proposes guidelines to improve clinical relevance.

The paper develops a genome-wide rare variant score linked to morphological subtypes of ASD and finds higher scores in dysmorphic ASD cases.

The paper identifies chromatin regulatory genes as genetic modifiers of conotruncal heart defects in 22q11.2 deletion syndrome and links them to sporadic congenital heart disease.

The paper investigates the association between gene copy number variation and mental health traits in children, finding links to ADHD, OCD, and cognitive biomarkers.

This study identifies 135 ASD-associated protein-coding genes using whole-genome sequencing data from 11,312 individuals and exome sequencing from over 18,000 trios, with a false discovery rate of 80%.

The paper identifies a recurrent SHANK3 frameshift variant in Autism Spectrum Disorder, showing de novo mutations and variable expressivity.