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Molecular Genetics & Genomic Medicine|January 29, 2019
Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sitesChristine C Bruels, Chengcheng Li, Tonatiuh Mendoza, et al.
Muscle & Nerve|July 29, 2024
Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathyJohnnie Turner, Christine C Bruels, Audrey L Daugherty, et al.
The FEBS Journal|January 17, 2025
Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle developmentMekala Gunasekaran, Hannah R Littel, Natalya M Wells, et al.
Biorxiv : the Preprint Server for Biology|June 21, 2024
Effects of HMGCR deficiency on skeletal muscle developmentMekala Gunasekaran, Hannah R Littel, Natalya M Wells, et al.
Lab on a Chip|September 6, 2018
3D microfluidic ex vivo culture of organotypic tumor spheroids to model immune checkpoint blockadeAmir R Aref, Marco Campisi, Elena Ivanova, 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.
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.
Acta Neuropathologica|February 17, 2023
Variants in DTNA cause a mild, dominantly inherited muscular dystrophyAndres Nascimento, Christine C Bruels, Sandra Donkervoort, et al.
The EMBO Journal|November 14, 2018
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegenerationVandana Shashi, Maria M Magiera, Dennis Klein, et al.
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