Stefania Bigoni

S. Gasparini, S. Balestrini, Luigi Francesco Saccaro, G. Bacci, Giorgia Panichella - American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2024

Cited by 15 Semantic Scholar

Mother and daughter with Kenny-Caffey Syndrome: the adult phenotype. OA

L. Tonelli, M. Sanchini, A. Margutti, B. Buldrini, A. Superti-Furga - European Journal of Medical Genetics, 2024

Cited by 3 Semantic Scholar

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care PDF

Ivan Ivanovski, Olivera Djurić, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon et al. - Genetics in Medicine, 2018

Cited by 107 OpenAlex

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes

Elena Parrini, Carla Marini, Davide Mei, Anna Galuppi, Elena Cellini et al. - Human Mutation, 2016

Cited by 163 OpenAlex

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout, Caroline Pottinger, Bregje W.M. van Bon et al. - Human Mutation, 2013

Cited by 218 OpenAlex

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome PDF

María Clara Bonaglia, Roberto Giorda, Silvana Beri, Cristina De Agostini, Francesca Novara et al. - PLoS Genetics, 2011

Cited by 229 OpenAlex

Evidence of kinesin heavy chain ( <i>KIF5A</i> ) involvement in pure hereditary spastic paraplegia

Marco Fichera, Mariangela Lo Giudice, M. Falco, Maurizio Sturnio, Silvestra Amata et al. - Neurology, 2004

Cited by 118 OpenAlex

Research Topics

Genetics and Neurodevelopmental Disorders (24) Genomics and Rare Diseases (21) Genomic variations and chromosomal abnormalities (17) Autism Spectrum Disorder Research (12) Congenital heart defects research (8)

Affiliations

Marche Polytechnic University

IT 2024 - 2023

University of Ferrara

IT 2025 - 2000

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico

IT 2020 - 2020

Anna University, Chennai

IN 2022 - 2022

Istituto Nazionale di Fisica Nucleare, Sezione di Ferrara

IT 2000 - 2000

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Stefania Bigoni

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Publications

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases

Luteolin use in Integrated Stress Response: insight from a case of EIF2AK2-related dystonia.

Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol OA