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Loss-of-function of the Zinc Finger Homeobox 4 (<i>ZFHX4</i>) gene underlies a neurodevelopmental disorder
(2024) -
- 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 -
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