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Non-coding structural variants identify a commonly affected regulatory region steering FOXG1 transcription in early neurodevelopment
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- Journal Article
- open access
Full characterization of unresolved structural variation through long-read sequencing and optical genome mapping
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Clinical impact of RNA-sequencing in diagnostics
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- Journal Article
- A1
- open access
Aligning genotyping and copy number data in single trophectoderm biopsies for aneuploidy prediction : uncovering incomplete concordance
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- Miscellaneous
- open access
Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder
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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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Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability
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Inherited pathogenic variants in neurodevelopmental disorders : a potential pitfall in triobased analysis of clinical exomes
(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.460-460 -
BeSolveRD : the Belgian genome resource to resolve rare diseases
(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.573-574 -
Long-read sequencing and optical genome mapping enable full characterization of previously unresolved structural variation