Fabiola B. Ceroni
Gipsy Lane
Oxford, ENG, United Kingdom
Oxford, ENG, United Kingdom
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 22 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
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
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
Journal: American journal of human genetics
Published: March 18, 2024
Whole genome analysis of rare deleterious variants adds further evidence to BRSK2 and other risk genes in Autism Spectrum Disorder.
Journal: Research square
Published: November 14, 2023
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates.
Journal: NPJ genomic medicine
Published: October 20, 2023
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 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
Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: August 23, 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
Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility.
Journal: Frontiers in psychiatry
Published: January 19, 2022
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder.
Journal: Journal of cellular and molecular medicine
Published: July 24, 2020
Last Updated: 09/26/2026