The paper identifies a non-coding variant causing GSD IX γ2, validates its splicing effects, and demonstrates reversal using antisense oligonucleotides.

Genetics in Medicine Open · Nov 20, 2025Peer-reviewedGenetics

Assessment of genes involved in lysosomal diseases using the ClinGen Clinical Validity framework

Emily Groopman, Shruthi Mohan, Amber Waddell, Matheus Vernet Machado Bressan Wilke, Raquel Fernandez, Meredith A. Weaver, Hongjie Chen, Hongbin Liu, Deeksha Sarihyan Bali, Heather Baudet, Lorne A. Clarke, Christina Hung, Rong Mao, Filippo Pinto e Vairo, Lemuel Racacho, , Jennifer Goldstein

The paper assesses the clinical validity of 56 genes associated with lysosomal diseases using the ClinGen framework, identifying key themes and challenges in their evaluation.

Molecular Genetics and Metabolism · Nov 1, 2024Peer-reviewedGenetic & Genomic Medicine

Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy

Shruthi Mohan, Shannon M. McNulty, Courtney Thaxton, Marwa Elnagheeb, Emma Owens, May Flowers, Teagan Nunnery, Autumn Self, Brooke Palus, Svetlana Gorokhova, April Kennedy, Zhiyv Niu, Mridul Johari, Alassane Baneye Maīga, Kelly Macalalad, , Conrad Chris Weihl

The paper curates 31 genes associated with limb girdle muscular dystrophy (LGMD) using an expert panel and clinical validity framework, identifying 35 gene-disease relationships with varying levels of evidence.

Annals of Clinical and Translational Neurology · Aug 30, 2024Peer-reviewedGenetics