Concepedia

Stefania Bigoni

SB

35

Publications

1.6K

Citations

20

H-Index

2000

Active since

Affiliations

University of Ferrara(Current)

Istituti di Ricovero e Cura a Carattere Scientifico

Ospedale Versilia

Meyer Children's Hospital

University of Siena

Stefania Bigoni is an author at University of Ferrara specializing in medicine, genetics, and molecular genetics.

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Publications per year

2000–2024

35

Publications

35

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

María Clara Bonaglia, Roberto Giorda, Silvana Beri et al. · PLoS Genetics · 2011 · 223 citations · Full text

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

Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout et al. · Human Mutation · 2013 · 214 citations

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

Elena Parrini, Carla Marini, Davide Mei et al. · Human Mutation · 2016 · 162 citations

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

Ivan Ivanovski, Olivera Djurić, Stefano Giuseppe Caraffi et al. · Genetics in Medicine · 2018 · 102 citations · Full text

<i>ATP1A2-</i> and <i>ATP1A3-</i>associated early profound epileptic encephalopathy and polymicrogyria

Annalisa Vetro, Hang N. Nielsen, Rikke Holm et al. · Brain · 2021 · 66 citations · Full text

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