Nicola K. Ragge
Birmingham, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 44 publications
Variants in the CxxC domain of the epigenetic regulator KDM2B support its role in developmental eye anomalies.
Journal: European journal of human genetics : EJHG
Published: October 20, 2025
Uncovering phenotypic expansion in AXIN2-related disorders through precision animal modeling.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 12, 2025
GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations.
Journal: European journal of human genetics : EJHG
Published: December 11, 2024
Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder.
Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder.
Journal: medRxiv : the preprint server for health sciences
Published: August 16, 2024
Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder.
Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder.
Journal: American journal of human genetics
Published: August 09, 2024
Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development.
Journal: Nature communications
Published: July 31, 2023
Correction: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.
Journal: European journal of human genetics : EJHG
Published: April 27, 2023
Clinical, genetic and biochemical signatures of RBP4-related ocular malformations.
Journal: Journal of medical genetics
Published: April 12, 2023
Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity.
Journal: Ophthalmic genetics
Published: January 25, 2023
Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.
Journal: European journal of human genetics : EJHG
Published: August 26, 2022
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 25, 2022
Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia.
Journal: European journal of human genetics : EJHG
Published: April 27, 2022
Last Updated: 09/26/2026