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 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
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
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
Study DDD, Fryer A, McKay V, Roume J, Dureau P, Saggar A, Griffiths M, Calvas P, Ayuso C, Corton M, Ragge NK (2018) New GJA8 variants and phenotypes highlight its critical role …
F Ceroni, D Aguilera-Garcia, N Chassaing, DA Bax, F Blanco-Kelly, ...
Hum Genet. https://doi. org/10.1007/s0043, 9-018, 1875
The genetics of specific language impairment (SLI)
R Nudel, F Ceroni, N Simpson, D Newbury
Specific Language Impairment, 7-34, 2015
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 31 (10), 1175-1180, 2023
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
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates
M Viggiano, F Ceroni, P Visconti, A Posar, MC Scaduto, L Sandoni, ...
NPJ Genomic Medicine 9 (1), 21, 2024
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