Dr. Nicole van Bergen
Honorary
Paediatrics Royal Children's Hospital
31 Scholarly works
0 Projects
HIGHLIGHTS
2020
Journal article
Nox4 Facilitates TGF beta 1-Induced Fibrotic Response in Human Tenon's Fibroblasts and Promotes Wound Collagen Accumulation in Murine Model of Glaucoma Filtration Surgery
DOI: 10.3390/antiox91111262020
Journal article
Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A)
DOI: 10.1016/j.jgg.2020.09.0032020
Journal article
Cover, Volume 41, Issue 10
DOI: 10.1002/humu.241152020
Journal article
Mutations in the exocyst component EXOC2 cause severe defects in human brain development
DOI: 10.1084/jem.201920402020
Journal article
Reply: Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy
DOI: 10.1093/brain/awaa2572020
Journal article
OXPHOS bioenergetic compensation does not explain disease penetrance in Leber hereditary optic neuropathy
DOI: 10.1016/j.mito.2020.07.0032020
Journal article
Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)
DOI: 10.1002/humu.24079
RECENT SCHOLARLY WORKS
2020
Journal article
Reply: NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness
DOI: 10.1093/brain/awaa1312020
Journal article
Bi-allelic LoF NRROS Variants Impairing Active TGF-beta 1 Delivery Cause a Severe Infantile-Onset Neuro degenerative Condition with Intracranial Calcification
DOI: 10.1016/j.ajhg.2020.02.0142020
Journal article
Reply: Recurrent bi-allelic splicing variant c.454 3A > G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement
DOI: 10.1019/brain/awaa0472020
Journal article
TRAPPing a neurological disorder: from yeast to humans
DOI: 10.1080/15548627.2020.17368732020
Journal article
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability
DOI: 10.1093/brain/awz3742019
Journal article
Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome-like patient
DOI: 10.1002/ccr3.25112019
Journal article
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants
DOI: 10.3390/jcm81120202019
Journal article
Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements
DOI: 10.1111/cge.13473