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Human Mutation|February 19, 2022
A clinical laboratory's experience using GeneMatcher-Building stronger gene-disease relationshipsJulie P Taylor, Alka Malhotra, Nicole J Burns, et al.Journal of Virology|November 18, 2016
Honey Bee Deformed Wing Virus Structures Reveal that Conformational Changes Accompany Genome ReleaseLindsey J Organtini, Kristin L Shingler, Robert E Ashley, et al.Neurology|October 28, 2025
Expert Consensus on Genetic Diagnostic Approaches for Patients With Limb-Girdle Muscular DystrophyVolker Straub, Amanda R Clause, Sandra Donkervoort, et al.Annals of Clinical and Translational Neurology|August 31, 2024
Expert panel curation of 31 genes in relation to limb girdle muscular dystrophyShruthi Mohan, Shannon McNulty, Courtney Thaxton, et al.Biorxiv : the Preprint Server for Biology|May 20, 2024
Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular DystrophyShruthi Mohan, Shannon McNulty, Courtney Thaxton, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 26, 2022
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panelsErin Rooney Riggs, Taylor I Bingaman, Carrie-Ann Barry, et al.Medrxiv : the Preprint Server for Health Sciences|December 3, 2025
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtypeIlaria Parenti, Alina Hesters, Marta Gil-Salvador, et al.Nature Communications|March 30, 2026
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtypeIlaria Parenti, Alina Hesters, Marta Gil-Salvador, et al.Genetics in Medicine Open|June 11, 2025
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationshipsEleanor C Broeren, Vanessa N Gitau, Alicia B Byrne, et al.Genetics|October 6, 2025
Mondo: Integrating Disease Terminology Across CommunitiesNicole A Vasilevsky, Sabrina Toro, Nicolas Matentzoglu, et al.Pageof 2