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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
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- Journal Article
- A1
- open access
Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling
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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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Lipodystrophy due to genetic deficiency of picornavirus host factor and obesity regulator PLAAT3
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.80-80