Fabiola Ceroni
Fabiola Ceroni
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Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia
J Plaisancié, F Ceroni, R Holt, C Zazo Seco, P Calvas, N Chassaing, ...
Human Genetics 138, 799-830, 2019
Genome-wide analysis identifies a role for common copy number variants in specific language impairment
NH Simpson, F Ceroni, RH Reader, LE Covill, JC Knight, ER Hennessy, ...
European Journal of Human Genetics 23 (10), 1370-1377, 2015
A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder
E Bacchelli, F Ceroni, D Pinto, S Lomartire, M Giannandrea, P D'Adamo, ...
Journal of neurodevelopmental disorders 6, 1-11, 2014
Genome-wide analyses of individual differences in quantitatively assessed reading-and language-related skills in up to 34,000 people
E Eising, N Mirza-Schreiber, EL De Zeeuw, CA Wang, DT Truong, ...
Proceedings of the National Academy of Sciences 119 (35), e2202764119, 2022
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies
F Ceroni, D Aguilera-Garcia, N Chassaing, DA Bax, F Blanco-Kelly, ...
Human genetics 138, 1027-1042, 2019
A Deletion Involving CD38 and BST1 Results in a Fusion Transcript in a Patient With Autism and Asthma
F Ceroni, A Sagar, NH Simpson, AJT Gawthrope, DF Newbury, D Pinto, ...
Autism Research 7 (2), 254-263, 2014
De novo missense variants in FBXW11 cause diverse developmental phenotypes including brain, eye, and digit anomalies
RJ Holt, RM Young, B Crespo, F Ceroni, CJ Curry, E Bellacchio, DA Bax, ...
The American Journal of Human Genetics 105 (3), 640-657, 2019
Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment
F Ceroni, NH Simpson, C Francks, G Baird, G Conti-Ramsden, A Clark, ...
European Journal of Human Genetics 22 (10), 1165-1171, 2014
Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits
C Zha, CA Farah, RJ Holt, F Ceroni, L Al-Abdi, F Thuriot, AO Khan, ...
Human molecular genetics 29 (18), 3054-3063, 2020
New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders
R Holt, F Ceroni, DA Bax, S Broadgate, DG Diaz, C Santos, D Gerrelli, ...
Scientific Reports 7 (1), 7975, 2017
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder
C Cameli, M Viggiano, MJ Rochat, A Maresca, L Caporali, C Fiorini, ...
Journal of cellular and molecular medicine 25 (5), 2459-2470, 2021
Multidisciplinary investigation links backward-speech trait and working memory through genetic mutation
S Prekovic, DF Đurđević, G Csifcsák, O Šveljo, O Stojković, M Janković, ...
Scientific Reports 6 (1), 20369, 2016
Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia
F Ceroni, D Osborne, S Clokie, DA Bax, EJ Cassidy, MJ Dunn, CM Harris, ...
European Journal of Human Genetics 31 (3), 353-359, 2023
Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility
M Viggiano, T D'Andrea, C Cameli, A Posar, P Visconti, MC Scaduto, ...
Frontiers in Psychiatry 13, 858238, 2022
Reply to Pembrey et al:‘ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis’
F Ceroni, NH Simpson, C Francks, G Baird, G Conti-Ramsden, A Clark, ...
European Journal of Human Genetics 23 (9), 1113-1115, 2015
The genetics of specific language impairment
R Nudel, F Ceroni, NH Simpson, DF Newbury
Specific language impairment: Current trends in research, 7-34, 2015
Disruption of capn15 in mice leads to brain and eye deficits
C Zha, C Abi Farah, V Fonov, R Holt, F Ceroni, N Ragges, D Rudko, ...
bioRxiv, 763888, 2019
Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia
Y Kesim, F Ceroni, A Damián, F Blanco-Kelly, C Ayuso, K Williamson, ...
European journal of human genetics, 1-6, 2023
Mouse and human studies support a role for CAPN15 variants in cataract and microphthalmia
C Zha, CA Farah, RJ Holt, F Ceroni, L AlAbdi, AO Khan, R Helaby, ...
Whole genome analysis of rare deleterious variants adds further evidence to BRSK2 and other risk genes in Autism Spectrum Disorder
E Bacchelli, M Viggiano, F Ceroni, P Visconti, A Posar, M Scaduto, ...
Research Square, 2023
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