Dr Nicole van Bergen
Honorary Senior Fellow
Department of Paediatrics
71 Scholarly works
0 Projects
HIGHLIGHTS
2026
Journal article
NAXD Deficiency: Heterogeneous Phenotypes and Positive Response to Niacin Treatment.
DOI: 10.1002/jimd.702172026
Journal article
Novel PCDH12 pathogenic missense variants cause neurodevelopmental disorders with ocular malformation.
DOI: 10.64898/2026.03.05.263437942026
Journal article
Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi-Omic Genomics
DOI: 10.1002/ajmg.a.701912026
Journal article
Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval
DOI: 10.1111/cge.702132025
Journal article
Failure to repair damaged NAD(P)H blocks de novo serine synthesis in human cells
DOI: 10.1186/s11658-024-00681-82025
Journal article
Generation and characterisation of four human NAD(P)HX epimerase (NAXE) knockout iPSC lines
DOI: 10.1016/j.scr.2025.1037822025
Journal article
Therapies for Mitochondrial Disease: Past, Present, and Future
DOI: 10.1002/jimd.70065
RECENT SCHOLARLY WORKS
2025
Journal article
Generation and heterozygous repair of human iPSC lines from two individuals with the neurodevelopmental disorder, TRAPPC4 deficiency
DOI: 10.1016/j.scr.2024.1036402025
Journal article
CHD8 Variant and Rett Syndrome: Overlapping Phenotypes, Molecular Convergence, and Expanding the Genetic Spectrum
DOI: 10.1155/humu/54859872024
Journal article
TRAPPopathies: Severe Multisystem Disorders Caused by Variants in Genes of the Transport Protein Particle (TRAPP) Complexes
DOI: 10.3390/ijms252413329