Maya Chopra

Guidance for clinical variant classification in genes for spliceosomal small nuclear RNAs

The paper provides guidance for classifying variants in snRNA genes and introduces RNUdb, a tool to support variant annotation and classification.

Consensus guidelines for eligibility assessment of pathogenic variants to antisense oligonucleotide treatments

The paper presents consensus guidelines for assessing pathogenic variants' eligibility for antisense oligonucleotide treatments, including classification criteria and considerations for different therapeutic approaches.

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

The paper curates 111 gene-disease relationships for syndromic disorders, classifying their clinical validity and identifying gaps in knowledge.

Clinical actionability of genetic findings in cerebral palsy

The paper evaluates the clinical impact of genetic findings in cerebral palsy, finding 8% of cases have actionable genetic diagnoses with moderate-high clinical utility.

Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders

This paper reviews US professional society guidelines for genetic testing in neurodevelopmental disorders and highlights the need for unified, updated, and accessible cross-specialty guidelines.