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Article
Open AccessDystonia and mitochondrial disease: the movement disorder connection revisited in 900 genetically diagnosed patients
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Article
Open AccessCritical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project
A major obstacle faced by families with rare diseases is obtaining a genetic diagnosis. The average "diagnostic odyssey" lasts over five years and causal variants are identified in under 50%, even when capturi...
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Article
Open AccessDigenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
In digenic inheritance, pathogenic variants in two genes must be inherited together to cause disease. Only very few examples of digenic inheritance have been described in the neuromuscular disease field. Here ...
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Article
Inferring compound heterozygosity from large-scale exome sequencing data
Recessive diseases arise when both copies of a gene are impacted by a damaging genetic variant. When a patient carries two potentially causal variants in a gene, accurate diagnosis requires determining that th...
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Article
Open AccessClinical implementation of RNA sequencing for Mendelian disease diagnostics
Lack of functional evidence hampers variant interpretation, leaving a large proportion of individuals with a suspected Mendelian disorder without genetic diagnosis after whole genome or whole exome sequencing ...
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Genomic Approaches for the Diagnosis of Inborn Errors of Metabolism
The implementation of whole-exome sequencing (WES) in molecular diagnostics has resulted in increased understanding of the genetic basis of inborn errors of metabolism (IEM) and genotype-phenotype relationship...
