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Medrxiv : the Preprint Server for Health Sciences|January 13, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathiesMaggie T Arriaga, Rodrigo Mendez, Rachel A Ungar, et al.
American Journal of Human Genetics|September 20, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathiesTaylor M Arriaga, Rodrigo Mendez, Rachel A Ungar, et al.
HGG Advances|March 11, 2026
Biallelic Variants in RNU6ATAC Result in a Minor Spliceopathy Characterized by Transcriptome-Wide Minor Intron Retention Events and Short Stature with Variable Multisystem ManifestationsRodrigo Mendez, Taylor M Arriaga, Jialan Ma, et al.
Cell Reports|July 26, 2018
The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular VesiclesMichael E Coulter, Cristina M Dorobantu, Gerrald A Lodewijk, 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.
Annals of Clinical and Translational Neurology|June 23, 2022
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophyChristine C Bruels, Hannah R Littel, Audrey L Daugherty, et al.
The Journal of Infectious Diseases|May 12, 2019
New Insights Into the Kinetics and Variability of Egg Excretion in Controlled Human Hookworm InfectionsMarie-Astrid Hoogerwerf, Luc E Coffeng, Eric A T Brienen, et al.
The New England Journal of Medicine|October 23, 2024
Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA GeneVijay S Ganesh, Kevin Riquin, Nicolas Chatron, et al.
EMBO Molecular Medicine|November 15, 2021
BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsySandra Donkervoort, Niklas Krause, Mykola Dergai, et al.
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