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- Journal Article
- A1
- open access
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity
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Long-read sequencing and optical genome mapping enable full characterization of previously unresolved structural variation
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- Conference Paper
- C3
- open access
Long-read sequencing and optical genome mapping enable full characterization of previously unresolved structural variation
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Long-read sequencing resolves (complex) cryptic structural variation in patients with syndromic intellectual disability
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Long-read sequencing resolves (complex) cryptic structural variation in patients with syndromic intellectual disability
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Long-read sequencing enables full characterization of previously unresolved structural variation
-
- Conference Paper
- C3
- open access
Long-read sequencing resolves (complex) cryptic structural variation in patients with syndromic intellectual disability
-
Long-read sequencing resolves cryptic structural variation in patients with syndromic intellectual disability
-
Benchmarking of long read structural variant callers using Oxford Nanopore data
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GENType : all-in-one preimplantation genetic testing by pedigree haplotyping and copy number profiling suitable for third-party reproduction