The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.

Purpose: The Clinical Genome Resource (ClinGen) Gene Curation Expert Panels (GCEPs) have historically focused on specific organ systems or phenotypes; thus, the ClinGen Syndromic Disorders GCEP (SD-GCEP) was formed to address an unmet need.

Methods: The SD-GCEP applied ClinGen's framework to evaluate the clinical validity of genes associated with rare syndromic disorders. 111 Gene-Disease Relationships (GDRs) associated with 100 genes spanning the clinical spectrum of syndromic disorders were curated.

Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.

Objective: Limb girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous autosomal conditions with some degree of phenotypic homogeneity. LGMD is defined as having onset >2 years of age with progressive proximal weakness, elevated serum creatine kinase levels and dystrophic features on muscle biopsy. Advances in massively parallel sequencing have led to a surge in genes linked to LGMD.

Feasibility study of a telehealth school-based behavioral parent training group program for attention-deficit/hyperactivity disorder.

Objective: To evaluate the feasibility and preliminary efficacy of Telehealth Behavioral Parent Training (T-BPT), a school telehealth group intervention for attention-deficit/hyperactivity disorder (ADHD) with a companion training program for school clinicians.

Methods: T-BPT was developed in an iterative three-phase design in partnership with community stakeholders during the COVID-19 pandemic. School clinicians (N = 4) delivered T-BPT over 8 weeks to parents (N = 21, groups of 5-6 per school) of children (Grades 2-5) with ADHD while simultaneously receiving training and consultation from PhD-level study trainers.

Experimental measurements of the granular density of modes via impact.

The jamming transition is an important feature of granular materials, with prior work showing an excess of low-frequency modes in the granular analog to the density of states, the granular density of modes. In this work, we present an experimental method for acoustically measuring the granular density of modes using a single impact event to excite vibrational modes in an experimental, three-dimensional, granular material. We test three different granular materials, all of which are composed of spherical beads.