MaveDB 2024: a curated community database with over seven million variant effects from multiplexed functional assays.

Multiplexed assays of variant effect (MAVEs) are a critical tool for researchers and clinicians to understand genetic variants. Here we describe the 2024 update to MaveDB ( https://www.mavedb.

Differential encoding of odor and place in mouse piriform and entorhinal cortex.

Unlabelled: The integration of olfactory and spatial information is critical for guiding animal behavior. The lateral entorhinal cortex (LEC) is reciprocally interconnected with cortical areas for olfaction and the hippocampus and thus ideally positioned to encode odor-place associations. Here, we used mini-endoscopes to record neural activity in the mouse piriform cortex (PCx) and LEC.

Type, content, and triggers for self-injurious thoughts and behaviors in autistic youth and their disclosure to caregivers.

Self-injurious thoughts and behaviors are high among autistic youth, yet research most often relies on caregiver reports and does not include youth perspectives. Relatedly, specific characteristics of self-injurious thoughts and behaviors (e.g.

Consultation informs strategies to improve functional evidence use in variant classification.

To determine if a variant identified by diagnostic genetic testing is causal for disease, applied genetics professionals evaluate all available evidence to assign a clinical classification. Experimental assay data can provide strong functional evidence for or against pathogenicity in variant classification, but appears to be underutilised. We surveyed genetic diagnostic professionals in Australasia to assess their application of functional evidence in clinical practice.

A Review of the Histopathology of Nail Unit Tumors Including Selection of the Optimal Surgical Sampling.

Background: A wide variety of tumors can affect the nail unit, with some commonly mistaken as inflammatory or infectious diseases. Obtaining an optimal sample for histopathologic evaluation requires understanding of nail unit anatomy as well as the histopathology of the suspected nail tumor.

Summary: This review discusses clinical and histopathologic features of a subset of benign and malignant nail tumors, including subungual melanoma, nail unit squamous cell carcinoma in situ, nail unit squamous cell carcinoma, onychomatricoma, onychopapilloma, onychocytic matricoma, and onychocytic carcinoma.