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C. Carta · SciRah

Researcher profile · Semantic Scholar

C. Carta

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C. Carta — researcher profile on SciRah

h-index: 25
Works: 59
Citations: 4,124

Most-cited papers

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
B. Pandit, A. Sarkozy, L. Pennacchio, C. Carta +25 more
2007Nature Genetics675 citations
Semantic Scholar
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome
M. Tartaglia, L. Pennacchio, Chen Zhao, K. Yadav +21 more
2006Nature Genetics594 citations Open access
Semantic Scholar
Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia.
M. Tartaglia, S. Martinelli, G. Cazzaniga, Viviana Cordeddu +11 more
2004Blood309 citations Open access
Semantic Scholar
A restricted spectrum of NRAS mutations causes Noonan syndrome
Ion C. Cirstea, K. Kutsche, R. Dvorský, L. Gremer +27 more
2009Nature Genetics306 citations Open access
Semantic Scholar
Germline BRAF mutations in Noonan, LEOPARD and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum
A. Sarkozy, C. Carta, S. Moretti, G. Zampino +23 more
2009Human Mutation290 citations Open access
Semantic Scholar
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype.
C. Carta, F. Pantaleoni, G. Bocchinfuso, L. Stella +10 more
2006American Journal of Human Genetics223 citations Open access
Semantic Scholar
Klebsiella pneumoniae ST258 Producing KPC-3 Identified in Italy Carries Novel Plasmids and OmpK36/OmpK35 Porin Variants
A. García-Fernández, L. Villa, C. Carta, C. Venditti +4 more
2012Antimicrobial Agents and Chemotherapy181 citations Open access
Semantic Scholar
Recommendations for Improving the Quality of Rare Disease Registries
Y. Kodra, J. Weinbach, M. Posada de la Paz, A. Coi +25 more
2018International Journal of Environmental Research and Public Health166 citations Open access
Semantic Scholar
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.
A. De Luca, I. Bottillo, A. Sarkozy, C. Carta +14 more
2005American Journal of Human Genetics155 citations Open access
Semantic Scholar
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome
G. Zampino, F. Pantaleoni, C. Carta, G. Cobellis +16 more
2007Human Mutation137 citations
Semantic Scholar
Complete sequencing of an IncH plasmid carrying the blaNDM-1, blaCTX-M-15 and qnrB1 genes.
L. Villa, L. Poirel, P. Nordmann, C. Carta +1 more
2012Journal of Antimicrobial Chemotherapy135 citations Open access
Semantic Scholar
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.
V. Caputo, L. Cianetti, M. Niceta, C. Carta +15 more
2012American Journal of Human Genetics103 citations Open access
Semantic Scholar
Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations
M. Dentici, A. Sarkozy, F. Pantaleoni, C. Carta +9 more
2009European Journal of Human Genetics91 citations Open access
Semantic Scholar
Genotyping of an Italian papillary thyroid carcinoma cohort revealed high prevalence of BRAF mutations, absence of RAS mutations and allowed the detection of a new mutation of BRAF oncoprotein (BRAFV599Ins)
C. Carta, S. Moretti, L. Passeri, F. Barbi +7 more
2006Clinical Endocrinology90 citations Open access
Semantic Scholar
Somatic PTPN11 mutations in childhood acute myeloid leukaemia
M. Tartaglia, S. Martinelli, I. Iavarone, G. Cazzaniga +11 more
2005British Journal of Haematology88 citations
Semantic Scholar
Clinical and molecular characterization of 40 patients with Noonan syndrome.
G. Ferrero, Giuseppina Baldassarre, A. G. Delmonaco, E. Biamino +4 more
2008European Journal of Medical Genetics61 citations
Semantic Scholar
Complete Sequence of the IncT-Type Plasmid pT-OXA-181 Carrying the blaOXA-181 Carbapenemase Gene from Citrobacter freundii
L. Villa, A. Carattoli, P. Nordmann, C. Carta +1 more
2013Antimicrobial Agents and Chemotherapy55 citations Open access
Semantic Scholar
Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors.
S. Martinelli, C. Carta, E. Flex, F. Binni +16 more
2006Cancer Genetics and Cytogenetics54 citations
Semantic Scholar
The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers
S. Gainotti, P. Torreri, C. M. Wang, R. Reihs +17 more
2018European Journal of Human Genetics47 citations Open access
Semantic Scholar
Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer
Pedro Sernadela, Lorena González-Castro, C. Carta, E. van der Horst +18 more
2017BioMed Research International44 citations Open access
Semantic Scholar
Biochemical and molecular characterization of the novel BRAF(V599Ins) mutation detected in a classic papillary thyroid carcinoma.
S. Moretti, A. Macchiarulo, V. De Falco, N. Avenia +9 more
2006Oncogene33 citations
Semantic Scholar
Structural and functional effects of disease‐causing amino acid substitutions affecting residues Ala72 and Glu76 of the protein tyrosine phosphatase SHP‐2
G. Bocchinfuso, L. Stella, S. Martinelli, E. Flex +6 more
2006Proteins: Structure, Function, and Bioinformatics32 citations
Semantic Scholar
Biochemical and molecular characterization of the novel BRAFV599Ins mutation detected in a classic papillary thyroid carcinoma
Sonia Moretti, A. Macchiarulo, V. De Falco, N. Avenia +9 more
2006Oncogene31 citations Open access
Semantic Scholar
Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs.
R. Di Giacopo, L. Cianetti, V. Caputo, I. La Torraca +12 more
2015Journal of Neurological Sciences30 citations
Semantic Scholar
Genomic Duplication of PTPN11 is an Uncommon Cause of Noonan Syndrome
J. M. Graham, Nancy Kramer, B. Bejjani, Christian T. Thiel +4 more
2009American Journal of Medical Genetics. Part A30 citations Open access
Semantic Scholar
Red Flags for early referral of people with symptoms suggestive of narcolepsy: a report from a national multidisciplinary panel
L. Vignatelli, E. Antelmi, I. Ceretelli, M. Bellini +14 more
2018Neurological Sciences25 citations Open access
Semantic Scholar
Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International
D. Taruscio, M. Salvatore, Aimé Lumaka, C. Carta +28 more
2023Frontiers in Public Health24 citations Open access
Semantic Scholar
Differences in the prevalence of PTPN11 mutations in FAB M5 paediatric acute myeloid leukaemia
B. Goemans, C. Zwaan, S. Martinelli, P. Harrell +8 more
2005British Journal of Haematology23 citations Open access
Semantic Scholar
Resources and tools for rare disease variant interpretation
L. Licata, Allegra Via, P. Turina, G. Babbi +18 more
2023Frontiers in Molecular Biosciences17 citations Open access
Semantic Scholar
Shaping the Future of Rare Diseases after a Global Health Emergency: Organisational Points to Consider
R. Talarico, D. Marinello, S. Cannizzo, A. Gaglioti +7 more
2020International Journal of Environmental Research and Public Health11 citations Open access
Semantic Scholar
The Italian pilot external quality assessment program for cystic fibrosis sweat test.
M. Salvatore, G. Floridia, A. Amato, F. Censi +12 more
2016Clinical Biochemistry11 citations
Semantic Scholar
The Italian National Centre for Rare Diseases: where research and public health translate into action.
D. Taruscio, L. Agresta, A. Amato, G. Bernardo +33 more
2014Blood transfusion = Trasfusione del sangue10 citations
Semantic Scholar
Draft Genome Sequence of Stenotrophomonas maltophilia Strain EPM1, Found in Association with a Culture of the Human Parasite Giardia duodenalis
D. Sassera, Iacopo Leardini, L. Villa, F. Comandatore +7 more
2013Genome Announcements8 citations Open access
Semantic Scholar
A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1
P. Cianci, V. Tono, A. Sala, L. Locatelli +4 more
2013American Journal of Medical Genetics. Part A8 citations
Semantic Scholar
An overlook on the current registries for rare and complex connective tissue diseases and the future scenario of TogethERN ReCONNET
M. Bandeira, F. Di Cianni, D. Marinello, L. Arnaud +25 more
2022Frontiers in Medicine7 citations Open access
Semantic Scholar
A Resource for Guiding Data Stewards to Make European Rare Disease Patient Registries FAIR
P. van Damme, Pablo Alarcón Moreno, C. Bernabé, Alberto Cámara Ballesteros +11 more
2023Data Science Journal6 citations Open access
Semantic Scholar
Registries of Domain-Relevant Semantic Reference Models Help Bootstrap Interoperability in Domains with Fragmented Data Resources
M. Roos, M. Wilkinson, Rajaram Kaliyaperumal, Mark Thompson +3 more
2016Workshop on Semantic Web Applications and Tools for Life Sciences3 citations
Semantic Scholar
The Italian External Quality Assessment Program for CF Sweat Chloride Test: Results of the 2015 Round
M. Salvatore, G. Floridia, A. Amato, F. Censi +12 more
20163 citations Open access
Semantic Scholar
Overview of a suite of middle-ware services for implementing FAIR data principles
Mark Thompson, Luiz Olavo Bonino da Silva Santos, M. Wilkinson, Rajaram Kaliyaperumal +10 more
20172 citations
Semantic Scholar
The Italian registry for narcolepsy and central disorders of hypersomnolence (ReN&IS): Baseline clinical and diagnostic findings.
Paola Torreri, G. Buoncuore, A. Rocchetti, Lorenzo Facciaroni +8 more
2026Sleep Medicine1 citations Open access
Semantic Scholar
One year in review 2020: economic and organisational aspects in rare and complex connective tissue diseases.
S. Cannizzo, I. Palla, S. Pirri, I. Triulzi +3 more
2020Clinical and Experimental Rheumatology1 citations
Semantic Scholar
Using adverse outcome pathways to identify exogenous risk factors for rare diseases
A. Mantovani, C. Carta, D. Taruscio, F. Ehrhart +1 more
2019Reproductive Toxicology1 citations
Semantic Scholar
Network-guided study of environmental factors for rare diseases
Ozan Ozisik, F. Ehrhart, C. Carta, Laura L. Cellai +10 more
20200 citations Open access
Semantic Scholar
Narcolepsy is a paediatric disease: Use red flags to recognise it
E. Antelmi, L. Vignatelli, I. Ceretelli, M. Bellini +14 more
20200 citations
Semantic Scholar
The Italian project for surveillance prevention and health care planning of congenital anomalies including Zika virus
D. Taruscio, P. Salerno, Orietta Granata, Y. Kodra +7 more
2018European Journal of Medical Genetics0 citations
Semantic Scholar
FACTORS INFLUENCING SURVIVAL OF INFANTS WITH ISOLATED , LEFT-SIDED CONGENITAL DIAPHRAGMATIC HERNIA : A SYSTEMATIC REVIEW
Joan K. Morris, Joachim Tan, Y. Kodra, Paola +8 more
20180 citations
Semantic Scholar
Overview of a Suite of Tools and Training Material for Implementing FAIR Data Principles
Mark Thompson, L. O. Bonino da Silva Santos, K. Burger, Rajaram Kaliyaperumal +8 more
2017Workshop on Semantic Web Applications and Tools for Life Sciences0 citations
Semantic Scholar
The FAIRification of Data and the Potential of FAIR Resources Demonstrated, in Practice, at the Rome Bring Your Own Data Workshop
C. Carta, M. Roos, Annika Jacobsen, Rajaram Kaliyaperumal +9 more
2017Workshop on Semantic Web Applications and Tools for Life Sciences0 citations
Semantic Scholar
ELIXIR Rare Disease Use Case: ELIXIR infrastructure for rare disease research
M. Roos, I. Gut, S. Beltran, R. Thompson +15 more
20170 citations Open access
Semantic Scholar
The Organisation of Bring Your Own Data (BYOD) Workshops to Make Life Science Data Linkable at the Source
M. Jansen, C. Carta, M. Roos, L. O. Bonino da Silva Santos
2016Workshop on Semantic Web Applications and Tools for Life Sciences0 citations
Semantic Scholar

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