Amanda S. Lindy

Resolution of the D4Z4 repeat responsible for facioscapulohumeral muscular dystrophy with HiFi sequencing

The paper introduces Kivvi, a tool to genotype D4Z4 repeats using HiFi sequencing, enabling accurate detection of FSHD-related alleles and revealing genetic diversity across populations.

Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders

This study analyzes 42 de novo CACNA1A missense variants in neurodevelopmental disorders, finding most alter channel function and correlate with clinical outcomes.

APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP

The paper refines ACMG/AMP splicing variant classification codes using empirical evidence to improve consistency in variant pathogenicity classification.

High-throughput Evaluation of Epilepsy-associated KCNQ2 Variants Reveals Functional and Pharmacological Heterogeneity

This study evaluates 79 KCNQ2 variants using automated patch clamp recording, revealing functional and pharmacological heterogeneity and genotype-dependent retigabine responses.

Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing datasets

The paper introduces a disease-specific variant pathogenicity predictor trained on clinical sequencing data from cardiomyopathy, epilepsy, and RASopathies patients.