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- Journal Article
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- 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
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
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- Journal Article
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- open access
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes
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- Journal Article
- A1
- open access
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease
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Biallelic loss-of-function variants in RAX2, encoding a homeobox-containing Rax transcription factor, cause autosomal recessive inherited retinal disease
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Interpreting genetic variants in titin in patients with muscle disorders
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The genetic basis of undiagnosed muscular dystrophies and myopathies: results from 504 patients