Roberta Polli

1.4k citations

32 papers · 868 indexed · h-index 15

Impact in

Sensory Systems top 2%
- Hearing, Cochlea, Tinnitus, Genetics
Genetics top 5%
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases

Papers in

Sensory Systems 5
- Hearing, Cochlea, Tinnitus, Genetics 5
Genetics 20
- Genetics and Neurodevelopmental Disorders 18
- Genomic variations and chromosomal abnormalities 9
- Genomics and Rare Diseases 4

Co-authors: Alessandra Murgia Maddalena Martella Stefano Sartori Cinzia Vinanzi Emanuela Leonardi Marilena Vecchi Eva Orzan Franco Zacchello
Journals: Journal of Child Neurology (2 papers)Annals of Human Genetics (1 paper)European Journal of Human Genetics (1 paper)International Journal of Environmental Research and Public Health (1 paper)European Journal of Cancer (1 paper)
Partner nations: Italy United States Spain

In The Last Decade

Roberta Polli

31 papers receiving 851 citations

Peers

Countries citing papers authored by Roberta Polli

Since Specialization

Citations

This map shows the geographic impact of Roberta Polli's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Roberta Polli with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Roberta Polli more than expected).

Fields of papers citing papers by Roberta Polli

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Roberta Polli. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Roberta Polli. The network helps show where Roberta Polli may publish in the future.

Co-authorship network

The 25 scholars most cited alongside Roberta Polli, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Roberta Polli Line = papers co-authored together Roberta Polli links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Somatic Instability Leading to Mosaicism in Fragile X Syndrome and Associated Disorders: Complex Mechanisms, Diagnostics, and Clinical Relevance International Journal of Molecular Sciences ·Dragana Protić, Roberta Polli, Elisa Bettella, Karen Usdin, Alessandra Murgia, Flora Tassone	2024	0
2	Feasibility and Reliability Assessment of Video-Based Motion Analysis and Surface Electromyography in Children with Fragile X during Gait Sensors ·Z. Sawacha, Fabiola Spolaor, Debra Niemeier, Rolf Mainz, Lüscher Tf, Annamaria Guiotto, 王哲军, Roberta Polli, Alessandra Murgia	2021	9
3	A Missense De Novo Variant in the CASK-interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia Neuropediatrics ·Claudia Ciaccio, Emanuela Leonardi, Roberta Polli, Alessandra Murgia, Stefano D’Arrigo, 李晗龙, Luisa Chiapparini, Chiara Pantaleoni, Silvia Esposito	2021	5
4	Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy” Frontiers in Neurology ·Emanuela Leonardi, Elisa Bettella, Maria Federica Pelizza, Maria Cristina Aspromonte, Roberta Polli, Clementina Boniver, Stefano Sartori, Donatella Milani, Alessandra Murgia	2020	15
5	Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype Journal of Human Genetics ·С А Третьяков, Elisa Bettella, Roberta Polli, Emanuela Leonardi, Maria Cristina Aspromonte, Yuta Kubono, Franco Stanzial, Francesco Benedicenti, Alberto Sensi, Andrea Ciorba, Stefania Bigoni, Elona Cama, Pietro Scimemi, Rosamaria Santarelli, Alessandra Murgia	2020	9
6	Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review European Journal of Paediatric Neurology ·Irene Toldo, Claudia Bonardi, Elisa Bettella, Roberta Polli, Giacomo Talenti, Alberto Burlina, Stefano Sartori, Alessandra Murgia	2018	17
7	Gait analysis in children with fragile syndrome: a pilot study Gait & Posture ·Z. Sawacha, Fabiola Spolaor, Sonoike Kintake, Annamaria Guiotto, Roberta Polli, Alessandra Murgia	2018	1
8	A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members International Journal of Pediatric Otorhinolaryngology ·С А Третьяков, Elisa Bettella, Roberta Polli, Elona Cama, Pietro Scimemi, Rosamaria Santarelli, Alessandra Murgia	2017	13
9	AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission Journal of Neurodevelopmental Disorders ·Carolyn M. Yrigollen, Loreto Martorell, Blythe Durbin‐Johnson, Irene Hana Hutagalung, Svetlana Yu. Komarova, Alessandra Murgia, Roberta Polli, Lili Zhou, Deborah Barbouth, P.H. Hayashi, Brenda Finucane, Gary J. Latham, Andrew G. Hadd, Elizabeth Berry‐Kravis, Flora Tassone	2014	82
10	Genetics and mathematics: FMR1 premutation female carriers Neuropsychologia ·Carlo Semenza, Manya Oriel Kagan, Roberta Polli, Jinjin Ding, Riccardo Pignatti, Teresa Iuculano, Anna Maria Laverda, Konstantinos Priftis, Alessandra Murgia	2012	14
11	The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy European Journal of Human Genetics ·Stephanie Fehr, Meredith Wilson, Jenny Downs, Simon Williams, Alessandra Murgia, Stefano Sartori, Marilena Vecchi, Gladys Ho, Roberta Polli, Stavroula Psoni, Xinhua Bao, Nicholas de Klerk, Helen Leonard, John Christodoulou	2012	209
12	A novel CDKL5 mutation in a 47,XXY boy with the early‐onset seizure variant of Rett syndrome American Journal of Medical Genetics Part A ·Stefano Sartori, Gabriella Di Rosa, Roberta Polli, Elisa Bettella, Yizhong Zhou, Gaetano Tortorella, Alessandra Murgia	2009	33
13	Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteria Brain and Development ·Rosangela Artuso, Maria Antonietta Mencarelli, Roberta Polli, Stefano Sartori, Francesca Ariani, Marzia Pollazzon, Annabella Marozza, Maria Roberta Cilio, Nicola Specchio, Federico Vigevano, Marilena Vecchi, Clementina Boniver, Bernardo Dalla Bernardina, Antonia Parmeggiani, Sabrina Buoni, Joussef Hayek, Francesca Mari, Alessandra Renieri, Alessandra Murgia	2009	60
14	Periventricular heterotopia in fragile X syndrome Neurology ·Francesca Moro, Tiziana Pisano, Bernardo Dalla Bernardina, Roberta Polli, Alessandra Murgia, Leonardo Zoccante, Francesca Darra, Agatino Battaglia, Tiziano Pramparo, Orsetta Zuffardi, Renzo Guerrini	2006	30
15	Molecular analysis of two uncharacterized sequence variants of the VHL gene Journal of Human Genetics ·Maddalena Martella, Leonardo Salviati, Alberto Casarin, Eva Trevisson, Giuseppe Opocher, Roberta Polli, David J. Gross, Alessandra Murgia	2006	14
16	Connexin 26 preverbal hearing impairment: Mutation prevalence and heterozygosity in a selected population: Problemas auditivos preverbales por Conexina 26: Prevalencia de mutacion y heterocigosidad en una población seleccionada International Journal of Audiology ·Eva Orzan, Alessandra Murgia, Roberta Polli, Maddalena Martella, J. Nehmer, Franco Zacchello, G Babighian	2002	5
17	Somatic mosaicism in von Hippel-Lindau disease Human Mutation ·Alessandra Murgia, Maddalena Martella, Cinzia Vinanzi, Roberta Polli, Giorgio Perilongo, Giuseppe Opocher	2000	54
18	Molecular Genetics Applied to Clinical Practice: The Cx26 Hearing Impairment British Journal of Audiology ·Eva Orzan, Roberta Polli, Maddalena Martella, Cinzia Vinanzi, Emanuela Leonardi, Alessandra Murgia	1999	28
19	The guanine triphosphatase (GTPase) activating protein (GAP)-related domain of the neurofibromatosis type 1 gene is not mutated in neural crest-derived sporadic tumours European Journal of Cancer ·Alessandra Murgia, Franca Anglani, Cinzia Vinanzi, Roberta Polli, Giuseppe Basso, Giorgio Perilongo, Felice Giangaspero, Franco Zacchello	1998	2
20	Amplification of the Xq28 FRAXE repeats: Extreme phenotype variability? American Journal of Medical Genetics ·Alessandra Murgia, Roberta Polli, Cinzia Vinanzi, Miura Ana Carolina, Paola Drigo, Fatimah A Bajafar, Franco Zacchello	1996	14

About Roberta Polli

Roberta Polli is a scholar working on Sensory Systems, Genetics, Cognitive Neuroscience, Clinical Biochemistry and Molecular Biology, having authored 32 papers that have together received 868 indexed citations. Recurring topics across this work include Genetics and Neurodevelopmental Disorders (18 papers), Genomic variations and chromosomal abnormalities (9 papers), Autism Spectrum Disorder Research (8 papers), Hearing, Cochlea, Tinnitus, Genetics (5 papers), Genomics and Rare Diseases (4 papers), RNA regulation and disease (3 papers), Chromatin Remodeling and Cancer (3 papers) and RNA modifications and cancer (3 papers). The work is most often cited by research in Sensory Systems (164 citations), Genetics (508 citations), Cognitive Neuroscience (204 citations), Endocrine and Autonomic Systems (59 citations) and Molecular Biology (470 citations). Roberta Polli has collaborated with scholars based in Italy, United States and Spain. Frequent co-authors include Alessandra Murgia, Maddalena Martella, Stefano Sartori, Cinzia Vinanzi, Emanuela Leonardi, Marilena Vecchi, Eva Orzan, Franco Zacchello, Elisa Bettella and Simon Williams. Their work appears in journals such as Journal of Child Neurology, Annals of Human Genetics, European Journal of Human Genetics, International Journal of Environmental Research and Public Health and European Journal of Cancer.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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