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This study identifies a CLASP1 variant in a consanguineous family linked to lissencephaly, showing it disrupts microtubule interactions and contributes to brain development defects.

The paper uses scRNA-seq to study NR2E3 mutations in mouse retinas, identifying hybrid photoreceptors and their role in disease.

The paper introduces GIS-FA, a method integrating GIS, factor-analytic models, and envirotyping to predict cultivar performance in untested environments and support decision-making.

The paper shows that within-group heritability cannot determine the genetic vs. environmental basis of between-group phenotypic differences, using mathematical analysis and simulations.

This study evaluates the functional impact of genetic variants using a high-throughput prime editing sensor strategy, identifying both known and novel TP53 variants with diverse effects on p53 function.

The paper improves genomic prediction of agronomic traits in maize by integrating spatio-temporal modeling of multi-spectral aerial images with genetic data.

The paper shows that TE sequence and conservation features predict their phenotypic relevance, with ERV1 TEs being an exception due to their unique role in environmental interactions.

The paper validates a pharmacogenomics reporting workflow using the Illumina Global Screening Array for 25 genes, showing high accuracy and reproducibility across multiple reference datasets.

This study investigates the molecular and metabolic effects of PKP2 knockdown in a guinea pig ARVC model, revealing ECM remodeling and metabolic changes associated with the disease.

The paper identifies ASAR lncRNAs as regulators of DNA replication timing through interactions with hnRNP proteins, showing their role in chromosome stability and replication synchronization.

The paper identifies a novel regulatory pathway that represses transcripts with long 3'UTRs through accelerated RNA decay, independent of sequence elements or transcript length.

The paper investigates whether heterozygous inversions in Drosophila simulans cause an interchromosomal effect and finds no evidence of such an effect.

The paper introduces dpMIG-seq, a PCR-based method for high-throughput genotyping that improves polymorphism discovery in crop species compared to MIG-seq.

The paper examines how different SARS-CoV-2 variants bind to the human ACE2 receptor, identifying regions of ACE2 involved in binding and suggesting multiple binding sites contribute to interaction.

The paper investigates the interaction between SARS-CoV-2 spike RBD and membrane-bound ACE2, showing rapid internalization and ACE2 downregulation, with variant-specific differences in binding dependencies.

This study shows that loss of Bbs8 in mice causes cystic kidney disease by reducing ciliary alpha-tubulin acetylation through increased HDAC2 activity.

The paper investigates adaptive admixture at the Duffy locus in Oman, finding evidence of selection for Duffy null alleles linked to reduced P. vivax prevalence.

This study uses a Drosophila model to functionally assess COL4A5 variants for pathogenicity in Alport syndrome, identifying four pathogenic variants and three benign ones.

This study investigates the functional impact of SMAD3 variants in patient-derived cells, showing distinct effects of dominant negative and haploinsufficient variants on disease manifestations and age of onset.

The paper investigates two Fas2 null alleles in Drosophila to determine which causes a true loss of function, finding that Fas2EB112 is enhanced by Nrg14, while Fas2G0336 is suppressed.