Andrea Zonta

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes

Eleonora Di Gregorio, Evelise Riberi, Elga Fabia Belligni et al. · Clinical Genetics · 2017 · 88 citations

Life Sciences, Genetics, Molecular Genetics +17

Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti–Boltshauser syndrome)

Alessia Micalizzi, Andrea Poretti, Marta Romani et al. · European Journal of Human Genetics · 2016 · 61 citations · Full text

Medicine, Neurology, Neuroscience +16

When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort

Alexandra MS Scott, Niccolò Di Giosaffatte, Valentina Pinna et al. · Genetics in Medicine · 2021 · 47 citations · Full text

Medicine, Obstetrics, Pediatrics +11

Comparison of the functional and structural characteristics of rare <i>TSC2</i> variants with clinical and genetic findings

Luiz Gustavo Dufner‐Almeida, Santoesha Nanhoe, Andrea Zonta et al. · Human Mutation · 2019 · 33 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Angiomyolipoma rebound tumor growth after discontinuation of everolimus in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis

John J. Bissler, Norio Nonomura, Klemens Budde et al. · PLoS ONE · 2018 · 32 citations · Full text

Medicine, Oncology, Radiology +17