Patrizia Ronchetto

1.3k total citations · 1 hit paper
28 papers, 841 citations indexed

About

Patrizia Ronchetto is a scholar working on Molecular Biology, Genetics and Pulmonary and Respiratory Medicine. According to data from OpenAlex, Patrizia Ronchetto has authored 28 papers receiving a total of 841 indexed citations (citations by other indexed papers that have themselves been cited), including 19 papers in Molecular Biology, 18 papers in Genetics and 7 papers in Pulmonary and Respiratory Medicine. Recurrent topics in Patrizia Ronchetto's work include Genomic variations and chromosomal abnormalities (11 papers), Genetics and Neurodevelopmental Disorders (8 papers) and Congenital heart defects research (7 papers). Patrizia Ronchetto is often cited by papers focused on Genomic variations and chromosomal abnormalities (11 papers), Genetics and Neurodevelopmental Disorders (8 papers) and Congenital heart defects research (7 papers). Patrizia Ronchetto collaborates with scholars based in Italy, Russia and France. Patrizia Ronchetto's co-authors include Giovanni Romeo, Margherita Lerone, Renata Bocciardi, Isabella Ceccherini, Virginia Barone, Barbara Pasini, Yin Luo, Marco Seri, Helena Kääriäinen and Giuseppe Martucciello and has published in prestigious journals such as Nature, Bone and Genomics.

In The Last Decade

Patrizia Ronchetto

26 papers receiving 800 citations

Hit Papers

align trajectories

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

1994 532 citations Giovanni Romeo, Patrizia Ronchetto et al. Nature profile →

Peers

Countries citing papers authored by Patrizia Ronchetto

Since Specialization

Citations

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

Fields of papers citing papers by Patrizia Ronchetto

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Patrizia Ronchetto

This figure shows the co-authorship network connecting the top 25 collaborators of Patrizia Ronchetto. A scholar is included among the top collaborators of Patrizia Ronchetto 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 Patrizia Ronchetto. Patrizia Ronchetto is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

#	Work	Indexed citations
1	LMX1B haploinsufficiency due to variants in the 5’UTR as a cause of Nail-Patella syndrome 2025 ·npj Genomic Medicine ·(unknown), Maria Teresa Divizia, (unknown), (unknown), Aldamaria Puliti, (unknown), Giuseppe Santamaria, Marco Di Duca, Patrizia Ronchetto, Francesca Faravelli, Federico Zara, Renata Bocciardi	1
2	Interstitial 2q24.2q24.3 Microdeletion: Two New Cases with Similar Clinical Features with the Exception of Profound Deafness 2022 ·Cytogenetic and Genome Research ·Elisa Tassano, Sarà Uccella, Patrizia Ronchetto, (unknown), Silvia Viaggi, Maria Margherita Mancardi, Luca A. Ramenghi, Alessandra Murri, (unknown), Giorgio Gimelli, Cristina Morerio, Michela Malacarne, Domenico Coviello	0
3	Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs 2021 ·Frontiers in Genetics ·(unknown), Livia Pisciotta, Elisa Tassano, (unknown), Lino Nobili, (unknown), (unknown), Margherita Lerone, Maria Teresa Divizia, Patrizia Ronchetto, Aldamaria Puliti	16
4	17q23.3 de novo microdeletion involving only TANC2 gene: A new case 2020 ·European Journal of Medical Genetics ·Elisa Tassano, Andrea Accogli, Patrizia Ronchetto, Domenico Tortora, (unknown), Giorgio Gimelli, Maria Margherita Mancardi, Michela Malacarne, Domenico Coviello	5
5	1p31.1 microdeletion including only NEGR1 gene in two patients 2020 ·European Journal of Medical Genetics ·Elisa Tassano, Sarà Uccella, Thea Giacomini, (unknown), (unknown), Michela Malacarne, Giorgio Gimelli, Domenico Coviello, Patrizia Ronchetto	5
6	Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability 2018 ·European Journal of Medical Genetics ·(unknown), Elisa Tassano, (unknown), Maria Teresa Divizia, Patrizia Ronchetto, (unknown), Margherita Lerone, Livia Pisciotta, Maria Margherita Mancardi, E. Veneselli, Aldamaria Puliti	13
7	Intragenic Microdeletion of <b><i>ULK4</i></b> and Partial Microduplication of <b><i>BRWD3</i></b> in Siblings with Neuropsychiatric Features and Obesity 2018 ·Cytogenetic and Genome Research ·Elisa Tassano, Sarà Uccella, Thea Giacomini, Pasquale Striano, Mariasavina Severino, (unknown), Giorgio Gimelli, Patrizia Ronchetto	10
8	Clinical and Molecular Characterization of Two Patients with CNTN6 Copy Number Variations 2018 ·Cytogenetic and Genome Research ·Elisa Tassano, Sarà Uccella, Thea Giacomini, Mariasavina Severino, (unknown), Giorgio Gimelli, Patrizia Ronchetto	6
9	Characterization of the Phenotype Associated with Microduplication Reciprocal to <b><i>NF1 </i></b>Microdeletion Syndrome 2017 ·Cytogenetic and Genome Research ·Elisa Tassano, Thea Giacomini, Mariasavina Severino, (unknown), (unknown), Giorgio Gimelli, Patrizia Ronchetto	0
10	Clinico-radiological and molecular characterization of a child with ring chromosome 2 presenting growth failure, microcephaly, kidney and brain malformations 2015 ·Molecular Cytogenetics ·Mariasavina Severino, Andrea Accogli, Giorgio Gimelli, Andrea Rossi, Svetlana Kotzeva, Maja Di Rocco, Patrizia Ronchetto, Cristina Cuoco, Elisa Tassano	15
11	Clinical and Molecular Cytogenetic Characterization of a de novo Interstitial 1p31.1p31.3 Deletion in a Boy with Moderate Intellectual Disability and Severe Language Impairment 2015 ·Cytogenetic and Genome Research ·Elisa Tassano, (unknown), (unknown), Patrizia Ronchetto, Cristina Cuoco, Giorgio Gimelli	14
12	Phenotypic and genetic characterization of a patient with a de novo interstitial 14q24.1q24.3 deletion 2014 ·Molecular Cytogenetics ·Elisa Tassano, Andrea Accogli, (unknown), Patrizia Ronchetto, Cristina Cuoco, Giorgio Gimelli	4
13	RORB gene and 9q21.13 microdeletion: Report on a patient with epilepsy and mild intellectual disability 2013 ·European Journal of Medical Genetics ·M. G. Baglietto, Gianluca Caridi, Giorgio Gimelli, Maria Margherita Mancardi, Giulia Prato, Patrizia Ronchetto, Cristina Cuoco, Elisa Tassano	31
14	Interstitial deletion 14q31.1q31.3 transmitted from a mother to her daughter, both with features of hemifacial microsomia 2013 ·Journal of Applied Genetics ·Stefania Gimelli, Cristina Cuoco, Patrizia Ronchetto, Giorgio Gimelli, Elisa Tassano	9
15	Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children 2011 ·Orphanet Journal of Rare Diseases ·Cristina Cuoco, Patrizia Ronchetto, Stefania Gimelli, Frédérique Béna, Maria Teresa Divizia, Margherita Lerone, Marisol Mirabelli-Badenier, (unknown), Giorgio Gimelli	42
16	Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease breakdown → 1994 ·Nature ·Giovanni Romeo, Patrizia Ronchetto, Yin Luo, Virginia Barone, Marco Seri, Isabella Ceccherini, Barbara Pasini, Renata Bocciardi, Margherita Lerone, Helena Kääriäinen, Giuseppe Martucciello	532
17	Informativity of intragenic microsatellites for carrier detection and prenatal diagnosis of cystic fibrosis in the Italian population 1994 ·Clinical Genetics ·Carmelina Magnani, Laura Cremonesi, Elena Belloni, Maurizio Ferrari, Manuela Seia, Maria Pia Russo, Marcella Devoto, Patrizia Ronchetto, G. Romeo	5
18	A nonsense mutation (R1158X) and a splicing mutation (3849 + 4A → G) in exon 19 of the cystic fibrosis transmembrane conductance regulator gene 1992 ·Genomics ·Patrizia Ronchetto, Juan José Tellería Orriols, Pascale Fanen, Laura Cremonesi, Maurizio Ferrari, Carmelina Magnani, Manuela Seia, M. Goossens, Giovanni Romeo, Marcella Devoto	17
19	Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes 1992 ·Human Mutation ·Laura Cremonesi, Maurizio Ferrari, Elena Belloni, Carmelina Magnani, Manuela Seia, Patrizia Ronchetto, (unknown), Maria Pia Russo, Giovanni Romeo, Marcella Devoto	40
20	Frequency of the ΔF508 mutation in a sample of 175 Italian cystic fibrosis patients 1990 ·Human Genetics ·Laura Cremonesi, (unknown), Manuela Seia, Silvia Russo, Annamaria Giunta, Patrizia Ronchetto, (unknown), Luca Romano, Marcella Devoto, Giovanni Romeo, Maurizio Ferrari	7

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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