Santhosh Girirajan

This study shows that RBM8A is essential for bone development and Hedgehog signaling, with its deficiency causing skeletal defects and impaired endochondral ossification.

The paper examines the evolutionary instability and structural diversity at the 16p12.2 locus across human and non-human primate haplotypes, identifying mechanisms driving deletion susceptibility and neurodevelopmental disorders.

The paper quantifies how genetic mutations affect enhancer activity and gene expression using a novel method and identifies TF-specific regulatory programs and enhancer-gene relationships.

The paper examines how modifier variants affect clinical outcomes in individuals with primary disease variants, showing context-dependent phenotypic associations and synergistic interactions.

The paper develops a framework to study variable expressivity in genetic disorders using 16p12.1 deletion models, showing how genetic background and secondary variants influence gene expression and phenotypes.

The paper identifies transcriptome changes in the medial prefrontal cortex of stress-resilient mice with disinhibited SST neurons, showing bidirectional gene expression shifts linked to behavioral resilience and sex-specific mechanisms.

This study identifies 13 obesity-related genes, including five novel ones, through a cross-ancestry analysis of BMI in 839,110 individuals.

Flynotyper 2.0 improves upon its predecessor by enhancing computer vision and streamlining analysis for high-throughput Drosophila eye phenotype quantification.

The paper examines how assortative mating and parental genetic relatedness influence the pathogenicity of variably expressive variants in neurodevelopmental disorders.

This paper identifies critical steps and QC checkpoints for reproducibility of STARR-seq assays and provides guidelines for experimental design and analysis pipelines.

This study investigates the role of 16p12.1 deletion orthologs in craniofacial development by analyzing their expression and function in Xenopus laevis neural crest cells.

This paper introduces a framework to identify rare variant combinations in complex disorders by combining the apriori algorithm with statistical inference, revealing significant associations with phenotypes like ID and schizophrenia.

This paper generates Ccdc28b mutant mice and finds they exhibit social behavioral defects and autism-like features, suggesting a link between CCDC28B and autism spectrum disorder beyond its role as a modifier of Bardet-Biedl syndrome.

The paper tests a 'two-hit' model for neurodevelopmental defects by examining interactions between 16p12.1 homologs and 'second-hit' genes in Drosophila and Xenopus laevis, finding genetic interactions in 63% of tested pairs.

The paper investigates how gene expression changes from a 16p12.1 deletion and second-hit variants contribute to phenotypic variability in developmental delay.

The paper identifies ISWI as a chromatin remodeler required for adult sleep in Drosophila, with distinct developmental roles in sleep and other behaviors.

The paper systematically analyzes non-neuronal defects in Drosophila models of pathogenic copy-number variant genes, identifying developmental issues in multiple tissues and signaling pathways.

The paper identifies genetic factors in autism that contribute to comorbidity with intellectual disability, showing increased risk for ID with specific variants.

This study identifies NCBP2 as a key modifier gene in the 3q29 deletion, showing it enhances developmental defects through disrupted apoptosis and cell cycle mechanisms in Drosophila and Xenopus models.

CN-Learn improves CNV detection from exome sequencing by integrating multiple callers and machine learning, achieving higher precision and recall than individual methods or Venn diagram approaches.

The paper proposes an interaction-based model to explain neuropsychiatric features of copy-number variants by considering gene interactions within CNV regions.

The paper shows that rare secondary mutations in functionally intolerant genes affect the expressivity of neurodevelopmental disorders in individuals with primary mutations.

The paper identifies genetic interactions within the 16p11.2 deletion that modulate neurodevelopmental phenotypes in Drosophila and links these interactions to human brain networks.

This study introduces two novel metrics to assess coverage uniformity in whole exome sequencing data, revealing local and global non-uniformity across platforms and genomic regions.

The paper introduces Flynotyper, a computational method to quantitatively assess eye phenotypes in Drosophila, demonstrating its accuracy in analyzing genetic effects on eye morphology.

This paper examines how comorbidity with intellectual disability affects autism prevalence estimates among US special education children, finding a 331% increase in autism prevalence linked to diagnostic recategorization.

This study reviews the genetic architecture of rare CNVs in neurodevelopmental disorders and evaluates their functional impact using animal models.