Publications by authors named "Fabiola Ceroni"

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GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations.
Solomon S Merepa, Linda M Reis, Alejandra Damián, Tanya Bardakjian, Adele Schneider, Fabiola Ceroni

Eur J Hum Genet· July 2025

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Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development.
Fabiola Ceroni, Munevver B Cicekdal, Richard Holt, Elena Sorokina, Nicolas Chassaing

Nat Commun· October 2024

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Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
Dmitrijs Rots, Sanaa Choufani, Victor Faundes, Alexander J M Dingemans, Shelagh Joss, Fabiola Ceroni

Am J Hum Genet· August 2024

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Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates.
Marta Viggiano, Fabiola Ceroni, Paola Visconti, Annio Posar, Maria Cristina Scaduto

NPJ Genom Med· March 2024

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Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.
Yesim Kesim, Fabiola Ceroni, Alejandra Damián, Fiona Blanco-Kelly, Carmen Ayuso

Eur J Hum Genet· October 2023

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Correction: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.
Yesim Kesim, Fabiola Ceroni, Alejandra Damián, Fiona Blanco-Kelly, Carmen Ayuso

Eur J Hum Genet· October 2023

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Whole genome analysis of rare deleterious variants adds further evidence to BRSK2 and other risk genes in Autism Spectrum Disorder.
Elena Bacchelli, Marta Viggiano, Fabiola Ceroni, Paola Visconti, Annio Posar

Res Sq· October 2023

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Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia.
Fabiola Ceroni, Daniel Osborne, Samuel Clokie, Dorine A Bax, Emma J Cassidy

Eur J Hum Genet· March 2023

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Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people.
Else Eising, Nazanin Mirza-Schreiber, Eveline L de Zeeuw, Carol A Wang, Dongnhu T Truong, Fabiola Ceroni

Proc Natl Acad Sci U S A· August 2022

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Contribution of Variants in Autism Spectrum Disorder Susceptibility.
Marta Viggiano, Tiziano D'Andrea, Cinzia Cameli, Annio Posar, Paola Visconti, Fabiola Ceroni

Front Psychiatry· March 2022

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An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder.
Cinzia Cameli, Marta Viggiano, Magali J Rochat, Alessandra Maresca, Leonardo Caporali, Fabiola Ceroni

J Cell Mol Med· March 2021

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Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits.
Congyao Zha, Carole A Farah, Richard J Holt, Fabiola Ceroni, Lama Al-Abdi

Hum Mol Genet· November 2020

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New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.
Fabiola Ceroni, Domingo Aguilera-Garcia, Nicolas Chassaing, Dorine Arjanne Bax, Fiona Blanco-Kelly

Hum Genet· September 2019

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De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.
Richard J Holt, Rodrigo M Young, Berta Crespo, Fabiola Ceroni, Cynthia J Curry

Am J Hum Genet· September 2019

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Multidisciplinary investigation links backward-speech trait and working memory through genetic mutation.
Stefan Prekovic, Dušica Filipović Đurđević, Gábor Csifcsák, Olivera Šveljo, Oliver Stojković, Fabiola Ceroni

Sci Rep· February 2016

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Genome-wide analysis identifies a role for common copy number variants in specific language impairment.
Nuala H Simpson, Fabiola Ceroni, Rose H Reader, Laura E Covill, Julian C Knight

Eur J Hum Genet· October 2015

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Reply to Pembrey et al: 'ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis'.
Fabiola Ceroni, Nuala H Simpson, Clyde Francks, Gillian Baird, Gina Conti-Ramsden

Eur J Hum Genet· September 2015

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Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment.
Fabiola Ceroni, Nuala H Simpson, Clyde Francks, Gillian Baird, Gina Conti-Ramsden

Eur J Hum Genet· October 2014

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A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder.
Elena Bacchelli, Fabiola Ceroni, Dalila Pinto, Silvia Lomartire, Maila Giannandrea

J Neurodev Disord· July 2014

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A deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma.
Fabiola Ceroni, Angela Sagar, Nuala H Simpson, Alex J T Gawthrope, Dianne F Newbury

Autism Res· April 2014

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