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S. Bigoni · SciRah

Researcher profile · Semantic Scholar

S. Bigoni

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S. Bigoni — researcher profile on SciRah

h-index: 22
Works: 67
Citations: 1,737

Most-cited papers

Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients
G. Santen, E. Aten, A. T. Vulto-van Silfhout, C. Pottinger +76 more
2013Human Mutation216 citations Open access
Semantic Scholar
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome
M. Bonaglia, R. Giorda, S. Beri, Cristina De Agostini +51 more
2011PLoS Genetics188 citations Open access
Semantic Scholar
Diagnostic Targeted Resequencing in 349 Patients with Drug‐Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes
E. Parrini, C. Marini, D. Mei, A. Galuppi +14 more
2017Human Mutation158 citations
Semantic Scholar
Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia
M. Fichera, M. L. Giudice, M. Falco, M. Sturnio +5 more
2004Neurology119 citations
Semantic Scholar
Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care
Ivan Ivanovski, O. Djuric, S. Caraffi, Daniela Santodirocco +76 more
2018Genetics in Medicine88 citations Open access
Semantic Scholar
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
A. Vetro, Hang N. Nielsen, Rikke Holm, R. Hevner +26 more
2021Brain : a journal of neurology71 citations Open access
Semantic Scholar
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females
Marcella Vacca, F. Filippini, A. Budillon, V. Rossi +18 more
2001Journal of molecular medicine62 citations
Semantic Scholar
Characterization of Intellectual disability and Autism comorbidity through gene panel sequencing
M. C. Aspromonte, Mariagrazia Bellini, A. Gasparini, Marco Carraro +20 more
2019bioRxiv58 citations Open access
Semantic Scholar
Illness Severity, Social and Cognitive Ability, and EEG Analysis of Ten Patients with Rett Syndrome Treated with Mecasermin (Recombinant Human IGF-1)
G. Pini, Laura Congiu, Alberto Benincasa, Pietro DiMarco +9 more
2016Autism Research and Treatment57 citations Open access
Semantic Scholar
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.
Martin Broly, B. Polevoda, K. Awayda, Ning Tong +33 more
2022American Journal of Human Genetics48 citations Open access
Semantic Scholar
Rett syndrome: a wide clinical and autonomic picture
G. Pini, S. Bigoni, Laura Congiu, A. Romanelli +8 more
2016Orphanet Journal of Rare Diseases41 citations Open access
Semantic Scholar
Expanding CEP290 mutational spectrum in ciliopathies
L. Travaglini, F. Brancati, T. Attié-Bitach, S. Audollent +163 more
2009American Journal of Medical Genetics. Part A41 citations Open access
Semantic Scholar
Variant of Rett Syndrome and CDKL5 Gene: Clinical and Autonomic Description of 10 Cases
G. Pini, S. Bigoni, I. Engerström, O. Calabrese +23 more
2012Neuropediatrics36 citations Open access
Semantic Scholar
PURA-Related Developmental and Epileptic Encephalopathy
K. Johannesen, E. Gardella, C. E. Gjerulfsen, A. Bayat +101 more
2021Neurology: Genetics35 citations Open access
Semantic Scholar
CHARGE‐like presentation, craniosynostosis and mild Mowat–Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases
T. Wenger, M. Harr, S. Ricciardi, E. Bhoj +20 more
2014American Journal of Medical Genetics. Part A35 citations
Semantic Scholar
MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region.
Marcella Vacca, F. Filippini, A. Budillon, V. Rossi +20 more
2001Brain & development (Tokyo. 1979)32 citations
Semantic Scholar
Unusual Father-to-Daughter Transmission of Incontinentia Pigmenti Due to Mosaicism in IP Males
F. Fusco, M. Conte, A. Diociaiuti, S. Bigoni +4 more
2017Pediatrics29 citations Open access
Semantic Scholar
Universal neonatal screening for sickle cell disease and other haemoglobinopathies in Ferrara, Italy.
E. Ballardini, Anna Tarocco, M. Marsella, R. Bernardoni +10 more
2013Blood transfusion = Trasfusione del sangue26 citations
Semantic Scholar
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
B. Yaldiz, Erdi Kucuk, J. Hampstead, T. Hofste +296 more
2023Human Genomics24 citations Open access
Semantic Scholar
Patient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation Therapy
Mattia Fonderico, Michele Laudisi, N. G. Andreasi, S. Bigoni +7 more
2017Frontiers in Neurology24 citations Open access
Semantic Scholar
Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis.
M. Falco, C. Scuderi, S. Musumeci, M. Sturnio +4 more
2004Neuromuscular Disorders23 citations
Semantic Scholar
Genome sequencing in families with congenital limb malformations
Jonas Elsner, M. Mensah, M. Holtgrewe, J. Hertzberg +28 more
2021Human Genetics22 citations Open access
Semantic Scholar
Clinical and genetic Rett syndrome variants are defined by stable electrophysiological profiles
Conor Keogh, G. Pini, A. Dyer, S. Bigoni +4 more
2018BMC Pediatrics22 citations Open access
Semantic Scholar
Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study
Nicky S. J. Halbach, E. Smeets, P. Julu, I. Witt-Engerstrom +10 more
2016American Journal of Medical Genetics. Part A22 citations Open access
Semantic Scholar
New patients with Temple syndrome caused by 14q32 deletion: Genotype‐phenotype correlations and risk of thyroid cancer
Giulia Severi, L. Bernardini, S. Briuglia, S. Bigoni +11 more
2016American Journal of Medical Genetics. Part A21 citations
Semantic Scholar
Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion
M. Bonaglia, R. Giorda, S. Beri, S. Bigoni +8 more
2008European Journal of Human Genetics21 citations Open access
Semantic Scholar
Report of a novel ATP7A mutation causing distal motor neuropathy.
F. Gualandi, E. Sette, F. Fortunato, S. Bigoni +15 more
2019Neuromuscular Disorders19 citations
Semantic Scholar
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype
A. Bruel, S. Bigoni, Joanna Kennedy, M. Whiteford +26 more
2017Journal of Medical Genetics18 citations Open access
Semantic Scholar
Thyroid Function in Rett Syndrome
S. Stagi, L. Cavalli, Laura Congiu, M. Scusa +5 more
2015Hormone Research in Paediatrics18 citations
Semantic Scholar
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
M. Cousin, E. Veale, Nikita R. Dsouza, Swarnendu Tripathi +67 more
2022Genome Medicine17 citations Open access
Semantic Scholar
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I
M. Riva, D. Martorana, V. Uliana, E. Caleffi +14 more
2021Genes, Chromosomes and Cancer17 citations Open access
Semantic Scholar
The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population
B. Spedicati, Aurora Santin, G. G. Nardone, E. Rubinato +7 more
2023Biomedicines14 citations Open access
Semantic Scholar
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype
Federica Cesca, E. Bettella, R. Polli, E. Leonardi +11 more
2020Journal of Human Genetics14 citations
Semantic Scholar
Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I
F. Bonatti, Alessia Adorni, Annalisa Matichecchia, P. Mozzoni +10 more
2017International Journal of Molecular Sciences14 citations Open access
Semantic Scholar
A New 3p14.2 Microdeletion in a Patient with Intellectual Disability and Language Impairment: Case Report and Review of the Literature
Giulia Parmeggiani, B. Buldrini, S. Fini, A. Ferlini +1 more
2018Molecular Syndromology10 citations Open access
Semantic Scholar
Communicating the diagnosis of Klinefelter syndrome to children and adolescents: when, how, and who?
L. Aliberti, I. Gagliardi, S. Bigoni, S. Lupo +5 more
2022Journal of Community Genetics7 citations Open access
Semantic Scholar
Koolen‐de Vries syndrome in a 63‐year‐old woman: Report of the oldest patient and a review of the adult phenotype
M. Farnè, L. Bernardini, A. Capalbo, Giusy Cavarretta +5 more
2021American Journal of Medical Genetics. Part A7 citations Open access
Semantic Scholar
Characterization of intellectual disability and autism comorbidity through gene panel sequencing
M. C. Aspromonte, Mariagrazia Bellini, A. Gasparini, Marco Carraro +20 more
2020Human Mutation7 citations Open access
Semantic Scholar
Clinical Genetics Can Solve the Pitfalls of Genome-Wide Investigations: Lesson from Mismapping a Loss-of-Function Variant in KANSL1
S. Bigoni, G. Marangi, Silvia Frangella, A. Panfili +4 more
2020Genes6 citations Open access
Semantic Scholar
Identification of a New Mutation in RSK2, the Gene for Coffin–Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes
M. D. Di Stazio, S. Bigoni, Nicola Iuso, Josef Vuch +3 more
2021Brain Science5 citations Open access
Semantic Scholar
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family
S. Bigoni, M. Neri, C. Scotton, R. Farina +18 more
2019Frontiers in Genetics5 citations Open access
Semantic Scholar
The noncoding RNA AK127244 in 2p16.3 locus: A new susceptibility region for neuropsychiatric disorders
Ambra Rizzo, E. Alfei, F. Zibordi, V. Saletti +17 more
2018American Journal of Medical Genetics Part B: Neuropsychiatric Genetics5 citations
Semantic Scholar
Cochlear malformation and sensorineural hearing loss in the Silver-Russell Syndrome.
S. Bigoni, A. Mauro, A. Ferlini, Virginia Corazzi +2 more
2018Minerva Pediatrica5 citations
Semantic Scholar
Genetic counseling for women referred for advanced maternal age: a telegenetic approach
F. Gualandi, S. Bigoni, L. Melchiorri, B. Buldrini +10 more
2014Genetics in Medicine5 citations Open access
Semantic Scholar
Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients
D. Lehalle, A. Bruel, A. Vitobello, A. Denommé-Pichon +38 more
2022American Journal of Medical Genetics. Part A4 citations
Semantic Scholar
The link between hidradenitis suppurativa and phylloid hypomelanosis in partial trisomy-13 mosaicism: New evidences and further genetic/pathogenetic insights.
R. Forconi, S. Bigoni, Lucrezia Pacetti, Cristina Host +5 more
2021Pediatric dermatology4 citations
Semantic Scholar
Correspondence on “Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6‐CDG”
L. Lugli, M. Pollazzon, S. Bigoni, S. Caraffi +7 more
2021American Journal of Medical Genetics. Part A4 citations Open access
Semantic Scholar
Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay
Giulia Parmeggiani, S. Bigoni, B. Buldrini, G. Garani +4 more
2017Molecular Syndromology4 citations Open access
Semantic Scholar
A Family with γ-Thalassemia and High Hb A2 Levels
Giulia Parmeggiani, F. Gualandi, R. Selvatici, P. Rimessi +7 more
2016Hemoglobin3 citations
Semantic Scholar
Variant of Rett Syndrome and CDKL5 Gene: Clinical and Autonomic Description of 10 Cases
G. Pini, S. Bigoni, I. Engerström, O. Calabrese +23 more
2013Neuropediatrics3 citations Open access
Semantic Scholar

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