Simona De Toffol

709 citations

15 papers · 412 indexed · h-index 11

Co-authors: Francesca Romana Grati Giuseppe Simoni Beatrice Grimi Federico Maggi Anna Ruggeri Francesca Dulcetti Francesca Malvestiti Elisa Gaetani
Topics: Prenatal Screening and Diagnostics (8 papers)Genomic variations and chromosomal abnormalities (7 papers)Fetal and Pediatric Neurological Disorders (4 papers)
Cited by: Pediatrics, Perinatology and Child Health Genetics Obstetrics and Gynecology
Journals: SHILAP Revista de lepidopterologíaHuman Mutation Genetics in Medicine
Partner nations: Italy France United States

In The Last Decade

Simona De Toffol

15 papers receiving 389 citations

Peers

Countries citing papers authored by Simona De Toffol

Since Specialization

Citations

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

Fields of papers citing papers by Simona De Toffol

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Simona De Toffol. 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 Simona De Toffol. The network helps show where Simona De Toffol may publish in the future.

Co-authorship network of co-authors of Simona De Toffol

This figure shows the co-authorship network connecting the top 25 collaborators of Simona De Toffol. A scholar is included among the top collaborators of Simona De Toffol based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Simona De Toffol. Simona De Toffol is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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15 of 15 papers shown

#	Work	Indexed citations
1	Pleomorphic/solid lobular carcinoma of male breast with PALB2 germline mutation: case report and literature review 2024 ·Pathologica ·(unknown),(unknown),(unknown),(unknown),(unknown),Simona De Toffol,Lucio Fortunato,Leopoldo Costarelli	1
2	Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results 2014 ·Genetics in Medicine ·Francesca Romana Grati,Francesca Malvestiti,José Carlos Ferreira,Komal Bajaj,Elisa Gaetani,Cristina Agrati,Beatrice Grimi,Francesca Dulcetti,Anna Ruggeri,Simona De Toffol,Federico Maggi,Ronald J. Wapner,Susan J. Gross,Giuseppe Simoni	144
3	Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome 2014 ·Clinical Case Reports ·(unknown),Licia Turolla,Eva Pompilii,Céline Dupont,Nicolas Gruchy,Simona De Toffol,Gabriella Bracalente,Séverine Bacrot,Enzo Troilo,Anne Claude Tabet,Sabrina Rossi,Anne Lise Delezoïde,(unknown),Nathalie Leporrier,Federico Maggi,Arnaud Molin,G. Pilu,Giuseppe Simoni,François Vialard,Francesca Romana Grati	16
4	De novo small supernumerary marker chromosomes detected on 143 000 consecutive prenatal diagnoses: chromosomal distribution, frequencies, and characterization combining molecular cytogenetics approaches 2014 ·Prenatal Diagnosis ·Francesca Malvestiti,Simona De Toffol,Beatrice Grimi,(unknown),(unknown),Cristina Agrati,(unknown),(unknown),Anna Maria Trotta,Barbara Malvestiti,Anna Ruggeri,Francesca Dulcetti,Federico Maggi,Giuseppe Simoni,Francesca Romana Grati	17
5	QF‐PCR as a substitute for karyotyping of cytotrophoblast for the analysis of chorionic villi: advantages and limitations from a cytogenetic retrospective audit of 44,727 first‐trimester prenatal diagnoses 2013 ·Prenatal Diagnosis ·Francesca Romana Grati,Francesca Malvestiti,Beatrice Grimi,Elisa Gaetani,(unknown),Anna Maria Trotta,(unknown),(unknown),Francesca Dulcetti,Anna Ruggeri,Cristina Agrati,(unknown),Silvia Milani,Simona De Toffol,(unknown),(unknown),(unknown),Federico Maggi,Giuseppe Simoni	14
6	Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes 2013 ·SHILAP Revista de lepidopterología ·Francesca Malvestiti,Francesco Benedicenti,Simona De Toffol,(unknown),(unknown),Beatrice Grimi,(unknown),(unknown),Cristina Agrati,(unknown),Federico Maggi,Giuseppe Simoni,Francesca Romana Grati	4
7	Prenatal BACs‐on‐Beads^TM: the prospective experience of five prenatal diagnosis laboratories 2012 ·Prenatal Diagnosis ·François Vialard,Giuseppe Simoni,D. Molina Gomes,(unknown),Simona De Toffol,(unknown),(unknown),Lucio Nitsch,P. Bouhanna,(unknown),Thomas Popowski,Beatrice Grimi,José Antonio Martínez-Conejero,Brigitte Benzacken,Rita Genesio,Francesca Romana Grati	35
8	Application of a new molecular technique for the genetic evaluation of products of conception 2012 ·Prenatal Diagnosis ·Francesca Romana Grati,D. Molina Gomes,Devika Ganesamoorthy,(unknown),Simona De Toffol,(unknown),Francesca Malvestiti,Laurence Lœuillet,Anna Ruggeri,Robert Wainer,Federico Maggi,Azzedine Aboura,Céline Dupont,Anne Claude Tabet,Fabien Guimiot,Howard R. Slater,Giuseppe Simoni,François Vialard	15
9	Prenatal BACs‐on‐Beads^™: a new technology for rapid detection of aneuploidies and microdeletions in prenatal diagnosis 2011 ·Prenatal Diagnosis ·François Vialard,Giuseppe Simoni,Azzedine Aboura,Simona De Toffol,(unknown),(unknown),Stéphane Serero,Patrice Clément,P. Bouhanna,Étienne Rouleau,Beatrice Grimi,J. Selva,Elisa Gaetani,Federico Maggi,(unknown),Brigitte Benzacken,Francesca Romana Grati	40
10	Quantitative Fluorescence-Polymerase Chain Reaction Assay for the Detection of the Duplication of the Charcot Marie Tooth Disease Type 1A Critical Region 2010 ·Genetic Testing and Molecular Biomarkers ·Simona De Toffol,Emilia Bellone,Francesca Dulcetti,Anna Ruggeri,(unknown),(unknown),Paola Mandich,Federico Maggi,Giuseppe Simoni,Francesca Romana Grati	1
11	SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome 2010 ·Genetics in Medicine ·Cristina Gervasini,Francesca Romana Grati,Faustina Lalatta,Silvia Tabano,Barbara Gentilin,Patrizia Colapietro,Simona De Toffol,Giada Frontino,F. Motta,Silvia Maitz,Laura Bernardini,Bruno Dallapiccola,Luigi Fedele,Lidia Larizza,Monica Miozzo	55
12	Chromosome abnormalities investigated by non‐invasive prenatal testing account for approximately 50% of fetal unbalances associated with relevant clinical phenotypes 2010 ·American Journal of Medical Genetics Part A ·Francesca Romana Grati,(unknown),Beatrice Grimi,Silvia Milani,(unknown),(unknown),(unknown),Anna Maria Trotta,(unknown),Francesca Dulcetti,Anna Ruggeri,Simona De Toffol,Maurizio Clementi,Federico Maggi,Giuseppe Simoni	41
13	Pure monosomy and pure trisomy of 13q21.2–31.1 consequent to a familial insertional translocation: Exclusion of PCDH9 as the responsible gene for autosomal dominant auditory neuropathy (AUNA1) 2009 ·American Journal of Medical Genetics Part A ·Francesca Romana Grati,Marci M. Lesperance,Simona De Toffol,(unknown),Angelo Selicorni,Sarah B. Emery,Beatrice Grimi,Francesca Dulcetti,Barbara Malvestiti,(unknown),Silvia Milani,Anna Ruggeri,Federico Maggi,Giuseppe Simoni	10
14	Prenatal detection by subtelomeric FISH and MLPA of unbalanced meiotic recombinants resulting from parental pericentric inversions 2008 ·Molecular and Cellular Probes ·Francesca Romana Grati,(unknown),(unknown),(unknown),Beatrice Grimi,Simona De Toffol,Silvia Milani,Francesca Dulcetti,(unknown),(unknown),(unknown),Anna Maria Trotta,Jordy Coffa,Federico Maggi,Giuseppe Simoni	3
15	Combined use of MLPA and nonfluorescent multiplex PCR analysis by high performance liquid chromatography for the detection of genomic rearrangements 2006 ·Human Mutation ·Laura De Lellis,Maria Cristina Curia,Teresa Catalano,Simona De Toffol,(unknown),Cristina Mareni,Lucio Bertario,Pasquale Battista,Renato Mariani‐Costantini,Paolo Radice,Alessandro Cama	16

About Simona De Toffol

Simona De Toffol is a scholar working on Pediatrics, Perinatology and Child Health, Genetics and Developmental Neuroscience, having authored 15 papers that have together received 412 indexed citations. Recurring topics across this work include Prenatal Screening and Diagnostics (8 papers), Genomic variations and chromosomal abnormalities (7 papers) and Fetal and Pediatric Neurological Disorders (4 papers). The work is most often cited by research in Pediatrics, Perinatology and Child Health (303 citations), Genetics (216 citations) and Obstetrics and Gynecology (46 citations). Simona De Toffol has collaborated with scholars based in Italy, France and United States. Frequent co-authors include Francesca Romana Grati, Giuseppe Simoni, Beatrice Grimi, Federico Maggi, Anna Ruggeri, Francesca Dulcetti, Francesca Malvestiti, Elisa Gaetani, Cristina Agrati and Ronald J. Wapner. Their work appears in journals such as SHILAP Revista de lepidopterología, Human Mutation and Genetics in Medicine.

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