Associated Papers
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
37273706 (PubMed )
Supplement: Table_2.xlsx › Blad1
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
Biallelic variants in GLE1 with survival beyond neonatal period.
Yates TM et al.
Clinical Genetics, 2020
Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy.
Cerino M et al.
Molecular Genetics & Genomic Medicine, 2020
Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea.
Tong W et al.
Scientific Reports, 2018
29581464 (PubMed )
Supplement: 41598_2018_23503_MOESM1_ESM.xls › P25
Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.
Said E et al.
American Journal of Medical Genetics. Part A, 2017
Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies.
Peeters K et al.
Brain : a Journal of Neurology, 2014
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