Cecilia Giunta

6.1k citations
69 papers · 2.4k · h-index 28

Impact in

  • Genetics top 1%
    • Connective tissue disorders research
    • Dermatological and Skeletal Disorders
  • Rheumatology top 2%
    • Bone and Dental Protein Studies
    • Dupuytren's Contracture and Treatments

Papers in

  • Genetics 48
    • Connective tissue disorders research 44
    • Dermatological and Skeletal Disorders 17
  • Molecular Biology 24
    • Wnt/β-catenin signaling in development and cancer 4
Co-authors
Beat Steinmann (20 shared papers)Marianne Rohrbach (29 shared papers)Fransiska Malfait (3 shared papers)Tomoki Kosho (3 shared papers)Marius Kraenzlin (6 shared papers)Marco Castori (1 shared paper)Peter H. Byers (1 shared paper)Clair A. Francomano (1 shared paper)
Journals
The American Journal of Human Genetics (4 papers)Human Mutation (4 papers)Orphanet Journal of Rare Diseases (3 papers)American Journal of Medical Genetics Part C Seminars in Medical Genetics (2 papers)Journal of Inherited Metabolic Disease (2 papers)
Partner nations
SwitzerlandItalyUnited States

In The Last Decade

Cecilia Giunta

67 papers receiving 2.3k citations

Peers

Cecilia Giunta
Comparison fields: 5 of 104
  • Genetics 1.5k
  • Rheumatology 581
  • Cell Biology 245
  • Cancer Research 218
  • Immunology and Allergy 84
Replace Bert Callewaert with:
Bert Callewaert Belgium
Samia A. Temtamy Egypt
MaryAnn Weis United States
Sofie Symoens Belgium
Mary Ann Weis United States
Laurence Legeai‐Mallet France
Nursel Elçioğlu Türkiye
Philippe Duquesnoy France
Tomoyuki Nakamura Japan
Víctor L. Ruiz‐Pérez Spain
Cecilia Giunta relative to Bert Callewaert Belgium Bert Callewaert's profile →
Citations per field
00.5×1.5×2.1×
Bert Callewaert · 1×
Citations per year

Countries citing papers authored by Cecilia Giunta

Since Specialization
Citations

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

Fields of papers citing papers by Cecilia Giunta

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

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

All Works

20 of 20 papers shown

Showing the 20 most-cited of 69 papers — load more, or switch the sort, to bring in the rest.

#Work
1
Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta
The American Journal of Human Genetics ·Jutta Becker, Oliver Semler, Christian Gilissen, Yun Li, Hanno J. Bolz, Cecilia Giunta, Carsten Bergmann, Marianne Rohrbach, Friederike Koerber, Katharina Zimmermann, Petra de Vries, Brunhilde Wirth, Eckhard Schöenau, Bernd Wollnik, Joris A. Veltman, Alexander Hoischen, Christian Netzer
2011250
2
The Ehlers–Danlos syndromes
Nature Reviews Disease Primers ·Fransiska Malfait, Marco Castori, Clair A. Francomano, Cecilia Giunta, Tomoki Kosho, Peter H. Byers
2020178
3
The Ehlers–Danlos syndromes, rare types
American Journal of Medical Genetics Part C Seminars in Medical Genetics ·Angela F. Brady, Serwet Demirdas, Sylvie Fournel‐Gigleux, Neeti Ghali, Cecilia Giunta, Ines Kapferer‐Seebacher, Tomoki Kosho, Roberto Mendoza‐Londono, Michael Pope, Marianne Rohrbach, Tim Van Damme, Anthony Vandersteen, Caroline van Mourik, Nicol C. Voermans, Johannes Zschocke, Fransiska Malfait
2017163
4
Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta
Human Mutation ·Víctor Martínez‐Glez, Eulalia Valencia, José A. Caparrós‐Martín, Mona Aglan, Samia A. Temtamy, Jair Tenorio, Verónica Pulido, Uschi Lindert, Marianne Rohrbach, David R. Eyre, Cecilia Giunta, Pablo Lapunzina, Víctor L. Ruiz‐Pérez
2011155
5
Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13
The American Journal of Human Genetics ·Cecilia Giunta, Nursel Elçioğlu, Beate Albrecht, Georg Eich, Céline Chambaz, Andreas Janecke, Heather N. Yeowell, MaryAnn Weis, David R. Eyre, Marius Kraenzlin, Beat Steinmann
2008149
6
Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers–Danlos syndrome
Proceedings of the National Academy of Sciences ·Jeeyon Jeong, Joel M. Walker, Fudi Wang, J. Genevieve Park, Amy E. Palmer, Cecilia Giunta, Marianne Rohrbach, Beat Steinmann, David Eide
201291
7
COL5A1 Haploinsufficiency Is a Common Molecular Mechanism Underlying the Classical Form of EDS
The American Journal of Human Genetics ·Richard Wenstrup, Jane B. Florer, Marcia Willing, Cecilia Giunta, Beat Steinmann, Felix Young, Miki Susic, William G. Cole
200091
8
Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation
Orphanet Journal of Rare Diseases ·Marianne Rohrbach, Anthony Vandersteen, Uluç Yiş, Gül Serdaroğlu, Esra Ataman, Maya Chopra, S. García García, Kristi Jones, Ariana Kariminejad, Marius Kraenzlin, Carlo Marcelis, Matthias R. Baumgartner, Cecilia Giunta
201167
9
ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components
Molecular Genetics and Metabolism ·Marianne Rohrbach, Helen Spencer, Louise F. Porter, Emma Burkitt‐Wright, Céline Bürer, Andreas Janecke, Madhura Bakshi, David Sillence, Hailah Al‐Hussain, Matthias R. Baumgartner, Beat Steinmann, Graeme C. Black, Forbes Manson, Cecilia Giunta
201358
10
Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci
Human Genetics ·Kathryn P. Burdon, Douglas J. Coster, Jac Charlesworth, Richard Mills, Kate J. Laurie, Cecilia Giunta, Alex W. Hewitt, Paul Latimer, Jamie E. Craig
200853
11
Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers–Danlos syndrome (EDS VI): Report on 23 patients and review of the literature
American Journal of Medical Genetics Part A ·Hailah Al‐Hussain, Steffen M. Zeisberger, Peter Huber, Cecilia Giunta, Beat Steinmann
200352
12
Insights into Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency: Molecular Genetic and Enzymatic Characterization of 76 Patients
Human Mutation ·Patricie Burda, Alexandra Schäfer, Terttu Suormala, Till Rummel, Céline Bürer, Dorothea M. Heuberger, Michele Frapolli, Cecilia Giunta, Jitka Sokolová, Hana Vlášková, Viktor Kožich, Hans Georg Koch, Brian Fowler, D. Sean Froese, Matthias R. Baumgartner
201552
13
Mutation analysis of the PLOD1 gene: An efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA)
Molecular Genetics and Metabolism ·Cecilia Giunta, Ann Randolph, Beat Steinmann
200551
14
The phenotype of the musculocontractural type of Ehlers‐Danlos syndrome due to CHST14 mutations
American Journal of Medical Genetics Part A ·Andreas Janecke, Ben Li, Manfred Boehm, Birgit Krabichler, Marianne Rohrbach, Thomas Müller, Irene Fuchs, Gretchen Golas, Yasuhiro Katagiri, Shira G. Ziegler, William A. Gahl, Yael Wilnai, Nicoletta Zoppi, Herbert M. Geller, Cecilia Giunta, Anne Slavotinek, Beat Steinmann
201550
15
Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers–Danlos syndrome (EDS VIA)
American Journal of Medical Genetics Part A ·Cecilia Giunta, Ann Randolph, Lihadh I. Al‐Gazali, Han G. Brunner, Marius Kraenzlin, Beat Steinmann
200547
16
Ehlers-Danlos Syndrome Type VII
Journal of Bone and Joint Surgery ·Cecilia Giunta, Andrea Superti‐Furga, Stephanie Spranger, William G. Cole, Beat Steinmann
199944
17
Understanding pyrroline‐5‐carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure‐based analysis, and novel therapy with arginine
Journal of Inherited Metabolic Disease ·Diego Martinelli, Johannes Häberle, Vicente Rubio, Cecilia Giunta, Ingrid Haußer, Rosalba Carrozzo, Nadine Gougeard, Clara Marco‐Marín, Bianca Maria Goffredo, Maria Chiara Meschini, Elsa Bevivino, Sara Boenzi, Giovanna Stefania Colafati, Francesco Brancati, Matthias R. Baumgartner, Carlo Dionisi‐Vici
201139
18
Recessive osteogenesis imperfecta: Clinical, radiological, and molecular findings
American Journal of Medical Genetics Part C Seminars in Medical Genetics ·Marianne Rohrbach, Cecilia Giunta
201238
19
RAPD analysis of systematic relationships among the Cervidae
Heredity ·Sergio Comincini, Massimo Sironi, Claudio Bandi, Cecilia Giunta, Michele Rubini, Francesco Fontana
199637
20
Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta
Journal of Biological Chemistry ·Uschi Lindert, Mary Ann Weis, Jyoti Rai, Frank Seeliger, Ingrid Haußer, Tosso Leeb, David R. Eyre, Marianne Rohrbach, Cecilia Giunta
201536

About Cecilia Giunta

Cecilia Giunta is a scholar working on Genetics, Molecular Biology, Rheumatology, Oncology and Cell Biology, having authored 69 papers that have together received 2.4k indexed citations. Recurring topics across this work include Connective tissue disorders research (44 papers), Dermatological and Skeletal Disorders (17 papers), Bone and Dental Protein Studies (10 papers), Bone health and treatments (7 papers), Dupuytren's Contracture and Treatments (5 papers), Corneal surgery and disorders (5 papers), Glaucoma and retinal disorders (4 papers) and Wnt/β-catenin signaling in development and cancer (4 papers). The work is most often cited by research in Genetics (1.5k citations), Rheumatology (581 citations), Cell Biology (245 citations), Cancer Research (218 citations) and Immunology and Allergy (84 citations). Cecilia Giunta has collaborated with scholars based in Switzerland, Italy and United States. Frequent co-authors include Beat Steinmann, Marianne Rohrbach, Fransiska Malfait, Tomoki Kosho, Marius Kraenzlin, Marco Castori, Peter H. Byers, Clair A. Francomano, David R. Eyre and Uschi Lindert. Their work appears in journals such as The American Journal of Human Genetics, Human Mutation, Orphanet Journal of Rare Diseases, American Journal of Medical Genetics Part C Seminars in Medical Genetics and Journal of Inherited Metabolic Disease.

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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