Santhosh Girirajan
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View article: Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes
Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes Open
View article: Discovery of obesity genes through cross-ancestry analysis
Discovery of obesity genes through cross-ancestry analysis Open
Gene discoveries in obesity have largely relied on homogeneous populations, limiting their generalizability across ancestries. Here, we conduct a gene-based rare variant association study of BMI on 839,110 individuals from six ancestries a…
View article: Quantifying the impact of genetic mutations on enhancer dynamics
Quantifying the impact of genetic mutations on enhancer dynamics Open
Transcriptional regulation is mediated by enhancers, yet how genetic perturbations alter enhancer activity and gene expression remains poorly understood. We developed UDI-UMI-STARR-seq, which integrates dual indexes and unique molecular id…
View article: 1 gene, 1 disease no more – acknowledging the full complexity of genetics could improve and personalize medicine
1 gene, 1 disease no more – acknowledging the full complexity of genetics could improve and personalize medicine Open
View article: An integrated framework for functional dissection of variable expressivity in genetic disorders
An integrated framework for functional dissection of variable expressivity in genetic disorders Open
Disease-associated variants can lead to variable phenotypic outcomes, but the biological mechanisms underlying this variability remain poorly understood. We developed a framework to investigate this phenomenon using the 16p12.1 deletion as…
View article: Expectations for papers performing Mendelian randomization analyses
Expectations for papers performing Mendelian randomization analyses Open
View article: Transcriptome signatures of the medial prefrontal cortex underlying GABAergic control of resilience to chronic stress exposure
Transcriptome signatures of the medial prefrontal cortex underlying GABAergic control of resilience to chronic stress exposure Open
View article: Discovery of novel obesity genes through cross-ancestry analysis
Discovery of novel obesity genes through cross-ancestry analysis Open
Gene discoveries in obesity have largely relied on homogeneous populations, limiting their generalizability across ancestries. We performed a gene-based rare variant association study of BMI on 839,110 individuals from six ancestries acros…
View article: Transcriptome signatures of the medial prefrontal cortex underlying GABAergic control of resilience to chronic stress exposure
Transcriptome signatures of the medial prefrontal cortex underlying GABAergic control of resilience to chronic stress exposure Open
Analyses of postmortem human brains and preclinical studies of rodents have identified somatostatin (SST)-positive interneurons as key elements that regulate the vulnerability to stress-related psychiatric disorders. Conversely, geneticall…
View article: Whole genome sequencing analysis identifies sex differences of familial pattern contributing to phenotypic diversity in autism
Whole genome sequencing analysis identifies sex differences of familial pattern contributing to phenotypic diversity in autism Open
View article: Flynotyper 2.0: an updated tool for rapid quantitative assessment of <i>Drosophila</i> eye phenotypes
Flynotyper 2.0: an updated tool for rapid quantitative assessment of <i>Drosophila</i> eye phenotypes Open
About two-thirds of the genes in the Drosophila melanogaster genome are also involved in its eye development, making the Drosophila eye an ideal system for genetic studies. We previously developed Flynotyper, a software that uses image pro…
View article: Genetic modifiers and ascertainment drive variable expressivity of complex disorders
Genetic modifiers and ascertainment drive variable expressivity of complex disorders Open
SUMMARY Variable expressivity of disease-associated variants implies a role for secondary variants that modify clinical features. We assessed the effects of modifier variants towards clinical outcomes of 2,252 individuals with primary vari…
View article: Transcriptome signatures of the medial prefrontal cortex underlying GABAergic control of resilience to chronic stress exposure
Transcriptome signatures of the medial prefrontal cortex underlying GABAergic control of resilience to chronic stress exposure Open
Analyses of postmortem human brains and preclinical studies of rodents have identified somatostatin (SST)-positive interneurons as key elements that regulate the vulnerability to stress-related psychiatric disorders. Conversely, geneticall…
View article: Flynotyper 2.0: An updated tool for rapid quantitative assessment of<i>Drosophila</i>eye phenotypes
Flynotyper 2.0: An updated tool for rapid quantitative assessment of<i>Drosophila</i>eye phenotypes Open
About two-thirds of the genes in the Drosophila melanogaster genome are also involved in its eye development, making the Drosophila eye an ideal system for genetic studies. We previously developed Flynotyper, a software that uses image pro…
View article: Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants Open
View article: Strategies for dissecting the complexity of neurodevelopmental disorders
Strategies for dissecting the complexity of neurodevelopmental disorders Open
View article: Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants Open
We examined more than 38,000 spouse pairs from four neurodevelopmental disease cohorts and the UK Biobank to identify phenotypic and genetic patterns in parents associated with neurodevelopmental disease risk in children. We identified cor…
View article: Challenges and considerations for reproducibility of STARR-seq assays
Challenges and considerations for reproducibility of STARR-seq assays Open
High-throughput methods such as RNA-seq, ChIP-seq, and ATAC-seq have well-established guidelines, commercial kits, and analysis pipelines that enable consistency and wider adoption for understanding genome function and regulation. STARR-se…
View article: Pathogenic Variants and Ascertainment: Neuropsychiatric Disease Risk in a Health System Cohort
Pathogenic Variants and Ascertainment: Neuropsychiatric Disease Risk in a Health System Cohort Open
View article: Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes
Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes Open
View article: Artificial gravity partially protects space-induced neurological deficits in Drosophila melanogaster
Artificial gravity partially protects space-induced neurological deficits in Drosophila melanogaster Open
View article: The gene dose makes the disease
The gene dose makes the disease Open
View article: Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact
Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact Open
View article: Challenges and considerations for reproducibility of STARR-seq assays
Challenges and considerations for reproducibility of STARR-seq assays Open
High-throughput methods such as RNA-seq, ChIP-seq and ATAC-seq have well-established guidelines, commercial kits, and analysis pipelines that enable consistency and wider adoption for understanding genome function and regulation. STARR-seq…
View article: 16p12.1 Deletion Orthologs are Expressed in Motile Neural Crest Cells and are Important for Regulating Craniofacial Development in Xenopus laevis
16p12.1 Deletion Orthologs are Expressed in Motile Neural Crest Cells and are Important for Regulating Craniofacial Development in Xenopus laevis Open
Copy number variants (CNVs) associated with neurodevelopmental disorders are characterized by extensive phenotypic heterogeneity. In particular, one CNV was identified in a subset of children clinically diagnosed with intellectual disabili…
View article: A general framework for identifying oligogenic combinations of rare variants in complex disorders
A general framework for identifying oligogenic combinations of rare variants in complex disorders Open
Genetic studies of complex disorders such as autism and intellectual disability (ID) are often based on enrichment of individual rare variants or their aggregate burden in affected individuals compared to controls. However, these studies o…
View article: Macrophage Selenoproteins Restrict Intracellular Replication of Francisella tularensis and Are Essential for Host Immunity
Macrophage Selenoproteins Restrict Intracellular Replication of Francisella tularensis and Are Essential for Host Immunity Open
The essential micronutrient Selenium (Se) is co-translationally incorporated as selenocysteine into proteins. Selenoproteins contain one or more selenocysteines and are vital for optimum immunity. Interestingly, many pathogenic bacteria ut…
View article: Generation and characterization of<i>Ccdc28b</i>mutant mice links the Bardet-Biedl associated gene with social behavioral phenotypes
Generation and characterization of<i>Ccdc28b</i>mutant mice links the Bardet-Biedl associated gene with social behavioral phenotypes Open
CCDC28B (coiled-coil domain-containing protein 28B) was identified as a modifier in the ciliopathy Bardet-Biedl syndrome (BBS). Our previous work in cells and zebrafish showed that CCDC28B plays a role regulating cilia length in a mechanis…
View article: Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion
Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion Open
View article: Oligogenic combinations of rare variants influence specific phenotypes in complex disorders
Oligogenic combinations of rare variants influence specific phenotypes in complex disorders Open
Genetic studies of complex disorders such as autism and intellectual disability (ID) are often based on enrichment of individual rare variants or their aggregate burden in affected individuals compared to controls. However, these studies o…