Stefania Gimelli

4.9k citations

64 papers · 1.6k indexed · h-index 21

Impact in

Genetics top 2%
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Developmental Biology top 5%

Papers in ⓘ

Developmental Biology 4
Genetics 49
- Genomic variations and chromosomal abnormalities 27
- Genetics and Neurodevelopmental Disorders 11
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities 8
- Genomics and Rare Diseases 6

Co-authors: Giorgio Gimelli (26 shared papers)Orsetta Zuffardi (16 shared papers)Frédérique Béna (16 shared papers)Maria Teresa Divizia (10 shared papers)Roberto Giorda (9 shared papers)Stylianos E. Antonarakis (8 shared papers)Margherita Lerone (10 shared papers)Elisa Tassano (13 shared papers)
Journals: European Journal of Medical Genetics (8 papers)PLoS ONE (5 papers)Orphanet Journal of Rare Diseases (3 papers)European Journal of Human Genetics (3 papers)Molecular Cytogenetics (3 papers)
Partner nations: Switzerland Italy United States

In The Last Decade

Stefania Gimelli

64 papers receiving 1.5k citations

Peers

Countries citing papers authored by Stefania Gimelli

Since Specialization

Citations

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

Fields of papers citing papers by Stefania Gimelli

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

The 25 scholars most cited alongside Stefania Gimelli, 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 Stefania Gimelli Line = papers co-authored together Stefania Gimelli 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 64 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Modelling and rescuing neurodevelopmental defect of D own syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 EMBO Molecular Medicine ·Youssef Hibaoui, Iwona Grad, Audrey Letourneau, M. Reza Sailani, Sophie Dahoun, Federico Santoni, Stefania Gimelli, Michel Guipponi, Marie Françoise Pelte, Frédérique Béna, Stylianos E. Antonarakis, Anis Féki	2013	132
2	Characterization of a recurrent 15q24 microdeletion syndrome Human Molecular Genetics ·Andrew J. Sharp, Rebecca R. Selzer, Joris A. Veltman, Stefania Gimelli, Giorgio Gimelli, Pasquale Striano, Antonietta Coppola, Regina Regan, Sue Price, Nine V.A.M. Knoers, Peggy S. Eis, Han G. Brunner, Raoul C. M. Hennekam, Samantha J.L. Knight, Bert B.A. de Vries, Orsetta Zuffardi, Evan E. Eichler	2007	129
3	Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports Orphanet Journal of Rare Diseases ·Laura Bernardini, Stefania Gimelli, Cristina Gervasini, Massimo Carella, Anwar Baban, Giada Frontino, Giancarlo Barbano, Maria Teresa Divizia, Luigi Fedele, Antonio Novelli, Frédérique Béna, Faustina Lalatta, Monica Miozzo, Bruno Dallapiccola	2009	106
4	Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation Human Mutation ·Renata Bocciardi, Roberto Giorda, Jens Buttgereit, Stefania Gimelli, Maria Teresa Divizia, Silvana Beri, Silvio Garofalo, Sara Tavella, Margherita Lerone, Orsetta Zuffardi, Michael Bäder, Roberto Ravazzolo, Giorgio Gimelli	2007	100
5	Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation Journal of Medical Genetics ·Elena Rossi, Mariluce Riegel, Jole Messa, Stefania Gimelli, P Maraschio, Roberto Ciccone, Michela Stroppi, Paola Riva, Concetta Simona Perrotta, Teresa Mattina, L. Memo, Alessandra Baumer, Vaidutis Kučinskas, Claudio Castellan, Albert Schinzel, Orsetta Zuffardi	2007	83
6	Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype European Journal of Human Genetics ·María Clara Bonaglia, Roberto Ciccone, Giorgio Gimelli, Stefania Gimelli, Susan Marelli, Joanne Verheij, Roberto Giorda, Rita Grasso, Renato Borgatti, Filomena Pagone, Laura Rodríguez, Maria-Luisa Martinez-Frias, Conny van Ravenswaaij, Orsetta Zuffardi	2008	75
7	2q24–q31 Deletion: Report of a case and review of the literature European Journal of Medical Genetics ·Chiara Pescucci, Rossella Caselli, Salvatore Grosso, Maria Antonietta Mencarelli, Francesca Mari, M.A. Farnetani, Barbara Piccini, Rosangela Artuso, Mirella Bruttini, Manuela Priolo, Orsetta Zuffardi, Stefania Gimelli, Paolo Balestri, Alessandra Renieri	2006	61
8	Aluminium chloride promotes anchorage‐independent growth in human mammary epithelial cells Journal of Applied Toxicology ·André‐Pascal Sappino, Raphaële Buser, Laurence Lesne, Stefania Gimelli, Frédérique Béna, Dominique Belin, Stefano J. Mandriota	2012	50
9	A Palindrome-Mediated Recurrent Translocation with 3:1 Meiotic Nondisjunction: The t(8;22)(q24.13;q11.21) The American Journal of Human Genetics ·Molly B. Sheridan, Takema Kato, Chad Haldeman‐Englert, G. Reza Jalali, Jeff M. Milunsky, Ying Zou, Ruediger Klaes, G. Gimelli, Stefania Gimelli, Robert M. Gemmill, Harry A. Drabkin, April M. Hacker, Julia Brown, David F Tomkins, Tamim H. Shaikh, Hiroki Kurahashi, Elaine H. Zackai, Beverly S. Emanuel	2010	48
10	Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children Orphanet Journal of Rare Diseases ·Cristina Cuoco, Patrizia Ronchetto, Stefania Gimelli, Frédérique Béna, Maria Teresa Divizia, Margherita Lerone, Marisol Mirabelli-Badenier, M. Mascaretti, Giorgio Gimelli	2011	42
11	Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract Human Mutation ·Stefania Gimelli, Gianluca Caridi, Silvana Beri, Kyle W. McCracken, Renata Bocciardi, Paola Zordan, Monica Dagnino, Patrizia Fiorio, Luisa Murer, Elisa Benetti, Orsetta Zuffardi, Roberto Giorda, James M. Wells, Giorgio Gimelli, Gian Marco Ghiggeri	2010	42
12	A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats Human Molecular Genetics ·Frédérique Béna, Stefania Gimelli, Eugenia Migliavacca, N. Brun-Druc, Karin Buiting, Stylianos E. Antonarakis, Andrew J. Sharp	2010	42
13	A Teratocarcinoma-Like Human Embryonic Stem Cell (hESC) Line and Four hESC Lines Reveal Potentially Oncogenic Genomic Changes PLoS ONE ·Outi Hovatta, Marisa Jaconi, Virpi Töhönen, Frédérique Béna, Stefania Gimelli, Alexis Bosman, Frida Holm, Stefan Wyder, Evgeny M. Zdobnov, Olivier Irion, Peter W. Andrews, Stylianos E. Antonarakis, Marco Zucchelli, Juha Kere, Anis Féki	2010	39
14	Genotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal Malformations PLoS ONE ·Elisa Tassano, Jens Buttgereit, Michael Bäder, Margherita Lerone, Maria Teresa Divizia, Renata Bocciardi, Flavia Napoli, Giovanna Pala, Frédérique Sloan‐Béna, Stefania Gimelli, Giorgio Gimelli	2013	33
15	Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion American Journal of Medical Genetics Part A ·Elisa Tassano, Vidhya Jagannathan, Cord Drögemüller, Massimiliano Leoni, Marjo K. Hytönen, Mariasavina Severino, Stefania Gimelli, Cristina Cuoco, Maja Di Rocco, Kirsi Sanio, Andrew K. Groves, Tosso Leeb, Giorgio Gimelli	2015	26
16	Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disorders Molecular Cytogenetics ·Stefania Gimelli, Valeria Capra, Maja Di Rocco, Massimiliano Leoni, Marisol Mirabelli-Badenier, Maria Cristina Schiaffino, Patrizia Fiorio, Cristina Cuoco, Giorgio Gimelli, Elisa Tassano	2014	25
17	Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAEgenes in a family with developmental delay and behavioural problems BMC Medical Genetics ·Valeria Capra, Marisol Mirabelli-Badenier, Michela Stagnaro, Andrea Rossi, Elisa Tassano, Stefania Gimelli, Giorgio Gimelli	2012	25
18	Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis European Journal of Human Genetics ·Giorgio Gimelli, Stefania Gimelli, Nazzareno Dimasi, Renata Bocciardi, E. Di Battista, Tiziano Pramparo, Orsetta Zuffardi	2006	24
19	Presence of 1q gain and absence of 7p gain are new predictors of local or metastatic relapse in localized resectable neuroblastoma Neuro-Oncology ·Annalisa Pezzolo, Elena Rossi, Stefania Gimelli, Federica Parodi, Francesca Negri, Massimo Conte, Angela Pistorio, Angela Rita Sementa, Vito Pistoia, Orsetta Zuffardi, Claudio Gambini	2008	24
20	De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome BMC Medical Genetics ·Carlotta Maria Vaccari, Maria Victoria Romanini, Ilaria Musante, Elisa Tassano, Stefania Gimelli, Maria Teresa Divizia, Michele Torre, Carmen Gloria Morovic, Margherita Lerone, Roberto Ravazzolo, Aldamaria Puliti	2014	24

About Stefania Gimelli

Stefania Gimelli is a scholar working on Developmental Biology, Genetics, Developmental Neuroscience, Molecular Biology and Plant Science, having authored 64 papers that have together received 1.6k indexed citations. Recurring topics across this work include Genomic variations and chromosomal abnormalities (27 papers), Chromosomal and Genetic Variations (14 papers), Congenital heart defects research (12 papers), Genetics and Neurodevelopmental Disorders (11 papers), Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities (8 papers), Genomics and Rare Diseases (6 papers), Prenatal Screening and Diagnostics (5 papers) and Sexual Differentiation and Disorders (4 papers). The work is most often cited by research in Genetics (900 citations), Developmental Biology (45 citations), Pediatrics, Perinatology and Child Health (228 citations), Molecular Biology (787 citations) and Developmental Neuroscience (31 citations). Stefania Gimelli has collaborated with scholars based in Switzerland, Italy and United States. Frequent co-authors include Giorgio Gimelli, Orsetta Zuffardi, Frédérique Béna, Maria Teresa Divizia, Roberto Giorda, Stylianos E. Antonarakis, Margherita Lerone, Elisa Tassano, Silvana Beri and Renata Bocciardi. Their work appears in journals such as European Journal of Medical Genetics, PLoS ONE, Orphanet Journal of Rare Diseases, European Journal of Human Genetics and Molecular Cytogenetics.

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