dr. Mattias Van Heetvelde
- Work address
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C. Heymanslaan 10, ingang 34 (MRB)
9000 Gent - Mattias.VanHeetvelde@UGent.be
- ORCID iD
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0000-0001-5758-0366
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- Journal Article
- A1
- open access
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
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Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophyand hearing loss
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.45-45 -
Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
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Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C variant in the MT-ND6 gene
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- Journal Article
- A1
- open access
Prevalence of germline pathogenic variants in cancer predisposing genes in Czech and Belgian pancreatic cancer patients
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Integration of genomics and transcriptomics allows the identification of rare DNA damage defects in PID patients with a cancer predisposition
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Integration of genomics and transcriptomics to identify DNA damage defects in PID patients prone to cancer
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Prevalence of germline pathogenic variants in cancer predisposing genes in Czech and Belgian pancreatic cancer patients
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Long-read sequencing to unravel complex structural variants of CEP78 leading to cone‐rod dystrophy and hearing loss
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Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss