Associated Papers
Exonic Variation and Its Clinical Impact in 7221 Old Order Amish.
Mitchell BD et al.
American Journal of Medical Genetics. Part A, 2025
Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases.
Wu G et al.
Translational Neurodegeneration, 2025
41152957 (PubMed )
Supplement: 40035_2025_516_MOESM3_ESM.xlsx › TableS2c_predicted_DM_URVs
Improved genomic characterization of a clinically heterogeneous pediatric cohort with WGS vs. WES.
Brashear AM et al.
Scientific Reports, 2025
41152280 (PubMed )
Supplement: 41598_2025_21421_MOESM1_ESM.xlsx › Sheet1
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.
Boonsawat P et al.
Npj Genomic Medicine, 2022
35906228 (PubMed )
Supplement: 41525_2022_316_MOESM3_ESM.xlsx › Supplementary_Table_4b
Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era.
Forny P et al.
Neurology. Genetics, 2021
The RNA Exosome and Human Disease.
Fasken MB et al.
Methods in Molecular Biology (clifton, N.j.), 2020
A Chemical Biology Approach to Model Pontocerebellar Hypoplasia Type 1B (PCH1B).
François-Moutal L et al.
Acs Chemical Biology, 2018
The RNA exosome and RNA exosome-linked disease.
Morton DJ et al.
Rna (new York, N.y.), 2018
Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences.
Fujikura K
Plos One, 2016
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.
Li Z et al.
Journal of Human Genetics, 2015
Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia.
Halevy A et al.
Journal of Neurology, 2014
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.
Eggens VR et al.
Orphanet Journal of Rare Diseases, 2014
Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.
Zanni G et al.
Neurogenetics, 2013
Exosomal Protein Deficiencies: How Abnormal RNA Metabolism Results in Childhood-Onset Neurological Diseases.
Müller JS et al.
Journal of Neuromuscular Diseases, 0
Select a paper to view details