Daniela Toniolo

30.6k citations

139 papers · 8.6k · 3 hit papers · h-index 47

Impact in

Genetics top 0.5%
- Genetics and Neurodevelopmental Disorders
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Molecular Biology top 1%
- Nuclear Structure and Function
- RNA Research and Splicing
- Genomics and Chromatin Dynamics
- RNA regulation and disease

Papers in

Molecular Biology 74
- RNA Research and Splicing 24
- Nuclear Structure and Function 23
- RNA regulation and disease 13
- RNA modifications and cancer 11
Genetics 47
- Genetics and Neurodevelopmental Disorders 24
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities 16

Co-authors: Silvia Bione (31 shared papers)Elena Maestrini (13 shared papers)Patrizia D’Adamo (10 shared papers)Ági K. Gedeon (4 shared papers)Luciano Merlini (12 shared papers)Stefano Rivella (11 shared papers)Cinzia Sala (34 shared papers)Pieter A. Bolhuis (3 shared papers)
Journals: Genomics (9 papers)Blood (8 papers)Proceedings of the National Academy of Sciences (8 papers)PLoS ONE (7 papers)Human Reproduction (7 papers)
Partner nations: Italy United States United Kingdom

In The Last Decade

Daniela Toniolo

137 papers receiving 8.4k citations

Daniela Toniolo's Hit Papers

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Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy 1999 · 1.0k citations

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if any of the following hold:

it has ≥500 total citations;
it reaches ≥1.5× the top-1% citation threshold for papers in the same subfield and year (the threshold is the minimum needed to enter the top 1%, not the average within it);
it reaches the top citation threshold in at least one of its specific research topics.

1999 Nature Genetics
1996 Nature Genetics
1994 Nature Genetics

Peers

Countries citing papers authored by Daniela Toniolo

Since Specialization

Citations

This map shows the geographic impact of Daniela Toniolo'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 Daniela Toniolo with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Daniela Toniolo more than expected).

Fields of papers citing papers by Daniela Toniolo

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Daniela Toniolo. 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 Daniela Toniolo. The network helps show where Daniela Toniolo may publish in the future.

Co-authors

The 25 scholars most cited alongside Daniela Toniolo, 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 Daniela Toniolo Line = papers co-authored together Daniela Toniolo links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

Showing the 20 most-cited of 139 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy Nature Genetics ·Gisèle Bonne, Marina Raffaele di Barletta, Shaïda Varnous, Henri-Marc Bécane, E. Hammouda, Luciano Merlini, Francesco Muntoni, Cheryl R. Greenberg, Françoise Gary, J.A. Urtizberea, Denis Duboc, Michel Fardeau, Daniela Toniolo, Ketty Schwartz Hit paper breakdown →	1999	1032
2	Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy Nature Genetics ·Silvia Bione, Elena Maestrini, Stefano Rivella, Mita Mancini, Stefano Regis, Giovanni Romeo, Daniela Toniolo Hit paper breakdown →	1994	686
3	A novel X-linked gene, G4.5. is responsible for Barth syndrome Nature Genetics ·Silvia Bione, Patrizia D’Adamo, Elena Maestrini, Ági K. Gedeon, Pieter A. Bolhuis, Daniela Toniolo Hit paper breakdown →	1996	565
4	Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy The American Journal of Human Genetics ·Marina Raffaele di Barletta, Enzo Ricci, Giuliana Galluzzi, Pietro Tonali, Marina Mora, Lucía Morandi, A. Romorini, Thomas Voit, Karen Helene Ørstavik, Luciano Merlini, C. Trevisan, Valérie Biancalana, Irena Housmanowa-Petrusewicz, Silvia Bione, Roberta Ricotti, Ketty Schwartz, Gisèle Bonne, Daniela Toniolo	2000	299
5	Mutations in GDI1 are responsible for X-linked non-specific mental retardation Nature Genetics ·Patrizia D’Adamo, Andrea Menegon, Cristiana Lo Nigro, Marina Grasso, Massimo Gulisano, Filippo Tamanini, T. Bienvenu, Ági K. Gedeon, Ben A. Oostra, Shih-Kwang Wu, Anurag Tandon, Flavia Valtorta, William E. Balch, Jamel Chelly, Daniela Toniolo	1998	264
6	Isolation of human glucose-6-pbosphate debydrogenase (G6PD) cDNA clones: primary structure of the protein and unusual 5' non-coding region Nucleic Acids Research ·M. Graziella Persico, Giuseppe Viglietto, G. Martini, Daniela Toniolo, Giacomo Paonessa, Claudio Moscatelli, Rosanna Dono, T. Vulliamy, Lucio Luzzatto, Michele D’Urso	1986	216
7	A Human Homologue of the Drosophila melanogaster diaphanous Gene Is Disrupted in a Patient with Premature Ovarian Failure: Evidence for Conserved Function in Oogenesis and Implications for Human Sterility The American Journal of Human Genetics ·Silvia Bione, Cinzia Sala, M. Chiara Manzini, Giulia Arrigo, Orsetta Zuffardi, Sandro Banfi, Giuseppe Borsani, Philippe Jonveaux, Christophe Philippe, Maurizio Zuccotti, Andrea Ballabio, Daniela Toniolo	1998	193
8	Structural analysis of the X-linked gene encoding human glucose 6-phosphate dehydrogenase. The EMBO Journal ·G. Martini, Daniela Toniolo, Tom Vulliamy, Lucio Luzzatto, Rosanna Dono, Giuseppe Viglietto, Giacomo Paonessa, Michele D’Urso, M. Graziella Persico	1986	188
9	A Mutation in the Rett Syndrome Gene, MECP2, Causes X-Linked Mental Retardation and Progressive Spasticity in Males The American Journal of Human Genetics ·Ilaria Meloni, Mirella Bruttini, Ilaria Longo, Francesca Mari, Flavio Rizzolio, Patrizia D’Adamo, Koenraad Denvriendt, Jean‐Pierre Fryns, Daniela Toniolo, Alessandra Renieri	2000	181
10	The X-Linked Gene G4.5 Is Responsible for Different Infantile Dilated Cardiomyopathies The American Journal of Human Genetics ·Patrizia D’Adamo, Lucia Fassone, Ági K. Gedeon, Emiel A. M. Janssen, Silvia Bione, Pieter A. Bolhuis, P. G. Barth, Meredith Wilson, Eric Haan, Karen Helen Örstavik, Michael A. Patton, Andrew Green, Enrico Zammarchi, Maria Alice Donati, Daniela Toniolo	1997	171
11	Isolation of Sequences that Span the Fragile X and Identification of a Fragile X-Related CpG Island Science ·Dominique Heitz, François Rousseau, Didier Devys, Salvatore Saccone, Hadi Abderrahim, Denis Le Paslier, Daniel Cohen, Anne Vincent, Daniela Toniolo, Giuliano Della Valle, Sandra Johnson, David Schlessinger, I. Oberlé, Jean‐Louis Mandel	1991	153
12	Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation Human Reproduction ·Beatrice Bodega, Silvia Bione, Leda Dalprà, Daniela Toniolo, Francesca Ornaghi, Walter Vegetti, Enrico Ginelli, Anna Marozzi	2005	143
13	A family of transmembrane proteins with homology to the MET-hepatocyte growth factor receptor. Proceedings of the National Academy of Sciences ·Elena Maestrini, Luca Tamagnone, Paola Longati, Ottavio Cremona, Massimo Gulisano, Silvia Bione, Filippo Tamanini, Benjamin G. Neel, Daniela Toniolo, Paolo M. Comoglio	1996	143
14	Clinical Relevance of Atrial Fibrillation/Flutter, Stroke, Pacemaker Implant, and Heart Failure in Emery-Dreifuss Muscular Dystrophy Stroke ·Giuseppe Boriani, M Gallina, Luciano Merlini, Gisèle Bonne, Daniela Toniolo, Silvia Amati, Mauro Biffi, Cristian Martignani, L Frabetti, Marco Bonvicini, Claudio Rapezzi, Angelo Branzi	2003	117
15	Expression of the G6PD locus on the human X chromosome is associated with demethylation of three CpG islands within 100 kb of DNA. The EMBO Journal ·Daniela Toniolo, G. Martini, Barbara R. Migeon, Rosanna Dono	1988	108
16	BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein Human Mutation ·Raffaella Rossetti, Elisa Di Pasquale, Anna Marozzi, Silvia Bione, Daniela Toniolo, Paola Grammatico, Lawrence M. Nelson, Paolo Beck‐Peccoz, Luca Persani	2009	102
17	General population low-count CLL-like MBL persists over time without clinical progression, although carrying the same cytogenetic abnormalities of CLL Blood ·Claudia Fazi, Lydia Scarfò, Lorenza Pecciarini, Francesca Cottini, Antonis Dagklis, Agnieszka Januś, Anna Maria Talarico, Cristina Scielzo, Cinzia Sala, Daniela Toniolo, Federico Caligaris‐Cappio, Paolo Ghia	2011	101
18	Eleven X Chromosome Breakpoints Associated with Premature Ovarian Failure (POF) Map to a 15-Mb YAC Contig Spanning Xq21 Genomics ·Cinzia Sala, Giulia Arrigo, G. Torri, Francesco Martinazzi, Paola Riva, Lidia Larizza, Christophe Philippe, Philippe Jonveaux, Frédérique Sloan, Tullio Labella, Daniela Toniolo	1997	100
19	Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure Human Molecular Genetics ·Mahmoud Mansouri, Jens Schuster, Jitendra Badhai, Eva-Lena Stattin, Ralf Lösel, Martin Wehling, Birgit Carlsson, Outi Hovatta, P.O. Karlström, Irina Golovleva, Daniela Toniolo, Silvia Bione, John J. Peluso, Niklas Dahl	2008	99
20	The immunoglobulin gene repertoire of low-count chronic lymphocytic leukemia (CLL)–like monoclonal B lymphocytosis is different from CLL: diagnostic implications for clinical monitoring Blood ·Antonis Dagklis, Claudia Fazi, Cinzia Sala, Valeria Cantarelli, Cristina Scielzo, R Massacane, Daniela Toniolo, Federico Caligaris‐Cappio, Κώστας Σταματόπουλος, Paolo Ghia	2008	99

About Daniela Toniolo

Daniela Toniolo is a scholar working on Molecular Biology, Genetics, Pediatrics, Perinatology and Child Health, Genetics and Public Health, Environmental and Occupational Health, having authored 139 papers that have together received 8.6k indexed citations. Recurring topics across this work include RNA Research and Splicing (24 papers), Genetics and Neurodevelopmental Disorders (24 papers), Nuclear Structure and Function (23 papers), Neonatal Health and Biochemistry (16 papers), Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities (16 papers), RNA regulation and disease (13 papers), RNA modifications and cancer (11 papers) and Reproductive Biology and Fertility (10 papers). The work is most often cited by research in Genetics (2.4k citations), Molecular Biology (5.6k citations), Genetics (772 citations), Cell Biology (828 citations) and Reproductive Medicine (391 citations). Daniela Toniolo has collaborated with scholars based in Italy, United States and United Kingdom. Frequent co-authors include Silvia Bione, Elena Maestrini, Patrizia D’Adamo, Ági K. Gedeon, Luciano Merlini, Stefano Rivella, Cinzia Sala, Pieter A. Bolhuis, Mita Mancini and Gisèle Bonne. Their work appears in journals such as Genomics, Blood, Proceedings of the National Academy of Sciences, PLoS ONE and Human Reproduction.

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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Daniela Toniolo

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