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An optimized workflow for CRISPR/Cas9-mediated generation of indels and large deletions in induced pluripotent stem cells and neural stem cells
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Long-read sequencing resolves cryptic structural variation in patients with syndromic intellectual disability
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Benchmarking of long read structural variant callers using Oxford Nanopore data
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Benchmarking of long-read structural variant callers using in-house generated Oxford Nanopore data
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Benchmarking of long-read structural variant callers using Oxford Nanopore data
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Benchmarking of long-read structural variant callers using Oxford Nanopore data
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- Conference Paper
- C3
- open access
A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene
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Mapping the 3D genome of the human retina and its role in retinal disease
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- Conference Paper
- C3
- open access
Mapping the 3D genome of the human retina and its role in retinal disease
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Structural variants disrupt a critical regulatory region downstream of FOXG1