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Fabiola Ceroni

Oxford Brookes University

6

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88

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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.

2021 Journal of Cellular and Molecular Medicine
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Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits.

2020 Human Molecular Genetics
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De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

2019 American Journal of Human Genetics
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Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia

2019 Human Genetics
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New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1 -related developmental eye disorders

2017 Scientific Reports
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