Nadav Ahituv

The paper characterizes regulatory variants in human neurons using lentiMPRA and shows that variant effects are influenced by regulatory element activity and sequence context, not population frequency.

This paper describes a method to co-isolate AAV with extracellular vesicles for efficient genome editing in rodent embryos, achieving higher viability and targeting efficiency compared to traditional purification methods.

The paper uses a modified MPRA to assess CYP3A4 enhancer variants with their native promoter, identifying variants with significant regulatory impact on drug response and cancer severity.

The paper identifies key regulatory elements in bat limb development by comparing bat and mouse genomic datasets and swapping enhancer sequences to observe phenotypic changes.

The paper introduces e2MPRA, a method that simultaneously measures regulatory activity and epigenomic features of CREs using lentivirus-based MPRA and targeted Cut&Tag or ATAC-seq.

The paper shows that Scn2a loss-of-function in mice causes degraded sensory coding in the cortex, which is rescued by CRISPRa gene activation.

The paper identifies active human neural enhancers and CRISPRa gRNAs that upregulate NDD risk genes, providing a resource for cis-regulatory therapy development.

This study shows that CRISPR activation can rescue electrophysiological deficits in SCN2A haploinsufficiency by increasing the expression of the remaining functional allele in mice and human neurons.

This paper introduces ccMPRA, a method that combines Capture-C and MPRA to study promoter interactions and regulatory activity, identifying enhancers and silencers.

The paper develops a high-throughput assay to test retrotransposon jumping activity and identifies variants that influence transposition.

MPRAbase is a curated database of MPRA experiments that provides access to 17.7 million regulatory elements tested across 35 cell types and 4 organisms.

The paper identifies functional cis-regulatory elements in three human cell types using lentiMPRAs and develops predictive models for CRE function.

The paper describes a CRISPRa screening method combining multiplex perturbations with sc-RNA-seq to identify cell-type-specific regulatory elements and their target genes.

The paper constructs enhancer-promoter interaction networks during neural differentiation and identifies their temporal dynamics and disease-associated variant enrichment using computational and experimental methods.

This study shows that deleting a conserved TAD boundary near Dmrtb1 and Lrp8 in mice impairs spermatogenesis but not fertility.

The paper identifies 46,802 enhancers and 164 psychiatric disorder variants with regulatory effects in the developing cortex and organoids using massively parallel reporter assays and deep learning.

The paper processes single-nuclei multi-omics data from 388 human brains to identify regulatory elements and build cell-type networks, revealing changes in aging and neuropsychiatric disorders.

The paper identifies cell-type specific chromatin accessibility QTLs and their functional impact on brain disease risk.

The paper generates a molecular neuroanatomical map of the human prefrontal cortex using spatial transcriptomics and single nucleus RNA-sequencing, revealing novel spatial domains and cell-cell interactions linked to psychiatric disorders.

The paper combines massively parallel reporter assays and mouse transgenic assays to study the functional impact of non-coding variants on neuronal enhancer activity, finding strong correlations and additional pleiotropic effects.

The paper identifies a female-biased tail abnormality caused by deletion of Pax1 regulatory elements in mice, linking it to estrogen signaling and AIS susceptibility.

The paper identifies impaired cerebellar plasticity as a mechanism underlying hypersensitized sensory reflexes in SCN2A-associated ASD, showing that increasing Scn2a expression rescues VOR plasticity in mice.

The paper uses MPRA in forebrain organoids to validate enhancer activity in early human neurodevelopment, identifying over 2,300 enhancers with temporal-specific activity.

This paper evaluates sequence design strategies for perturbation MPRA using a computational framework and finds that random nucleotide shuffling outperforms other methods.

This study identifies a genetic variant in COL11A1 associated with adolescent idiopathic scoliosis and proposes a molecular model involving Pax1, Col11a1, and Mmp3 in spinal chondrocytes.

This study uses single-cell sequencing to identify cellular and molecular differences in the kidneys and pancreases of insectivorous and frugivorous bats, linking them to diabetes-related mechanisms.

The paper integrates single-cell RNA and ATAC-seq data from mouse and human hypothalamus to identify sex-specific genes and obesity-associated regulatory elements.

This study identifies ADGRG6 as a gene involved in adipogenesis and sex-specific fat distribution, showing its potential as a therapeutic target for metabolic disease.

This study uses scRNA-seq to analyze human breast milk cells over lactation, identifying cell type shifts and functional changes linked to time and maternal factors.

The paper uses perturbation assays to study how regulatory elements guide neural differentiation over time, identifying sequence-driven activity and environmental effects on transcription.