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- Journal Article
- A1
- open access
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
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- Journal Article
- A1
- open access
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
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- Journal Article
- A1
- open access
Recommendations for whole genome sequencing in diagnostics for rare diseases
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- Journal Article
- A1
- open access
No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients
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Beyond ALS and FTD : the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes
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Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)
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- Journal Article
- A1
- open access
TBK1 mutation spectrum in an extended European patient cohort with frontotemporal dementia and amyotrophic lateral sclerosis
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- Journal Article
- A1
- open access
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration
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A pan-European study of the C9orf72 repeat associated with FTLD : geographic prevalence, genomic instability, and intermediate repeats