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Researcher
Annelies Dheedene
- Disciplines:Paediatrics and neonatology, Molecular and cell biology, Systems biology, Nursing, Genetics
Affiliations
- Department of Pediatrics and medical genetics (Department)
Member
From16 Jul 2007 → 24 Sep 2017
Publications
1 - 10 of 65
- Generation of two iPSC lines (UGENTi003 and UGENTi004) from patients with intermediate rod-cone dystrophy carrying the c.[-123C>T;701G>A]; [806_810del] variants in the RDH12 gene(2025)Published in: STEM CELL RESEARCHISSN: 1876-7753Volume: 86
- Neonatal cholestasis progressing to a multisystem syndrome with liver cirrhosis in two siblings with FARSA deficiency : an evolving hepatological phenotype(2025)Published in: JIMD REPORTSISSN: 2192-8312Issue: 3Volume: 66
- Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder(2025)Published in: AMERICAN JOURNAL OF HUMAN GENETICSISSN: 1537-6605Issue: 6Volume: 112Pages: 1388 - 1414
- Case report : recurrent catatonia in a patient with 17p13.3 microduplication syndrome(2025)Published in: FRONTIERS IN PSYCHIATRYISSN: 1664-0640Volume: 16
- Structural variants disrupt a critical regulatory region downstream of FOXG1(2025)Pages: 24 - 24
- Biallelic RXFP2 variants lead to congenital bilateral cryptorchidism and male infertility, supporting a role of RXFP2 in spermatogenesis(2024)Published in: HUMAN REPRODUCTIONISSN: 1460-2350Issue: 10Volume: 39Pages: 2353 - 2363
- Full characterization of unresolved structural variation through long-read sequencing and optical genome mapping(2024)Published in: SCIENTIFIC REPORTSISSN: 2045-2322Issue: 1Volume: 14
- Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability(2024)Published in: AMERICAN JOURNAL OF HUMAN GENETICSISSN: 1537-6605Issue: 3Volume: 111Pages: 509 - 528
- Structural variants disrupt a critical regulatory region downstream of FOXG1(2024)Number of pages: 1
- De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity(2024)Published in: GENETICS IN MEDICINEISSN: 1530-0366Issue: 5Volume: 26