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.

Using multiplexed functional data to reduce variant classification inequities in underrepresented populations.

Background: Multiplexed Assays of Variant Effects (MAVEs) can test all possible single variants in a gene of interest. The resulting saturation-style functional data may help resolve variant classification disparities between populations, especially for Variants of Uncertain Significance (VUS).

Methods: We analyzed clinical significance classifications in 213,663 individuals of European-like genetic ancestry versus 206,975 individuals of non-European-like genetic ancestry from All of Us and the Genome Aggregation Database.

Novel off-context experience constrains hippocampal representational drift.

The hippocampus forms unique neural representations for distinct experiences, supporting the formation of different memories. Hippocampal representations gradually change over time as animals repeatedly visit the same familiar environment ("representational drift"). Such drift has also been observed in other brain areas, such as the parietal, visual, auditory, and olfactory cortices.