G. Cuccuru

发表

Matthias Bernt, Dave Bouvier, Nate Coraor, 2020 .

Simulating Cardiac Electrophysiology Using Unstructured All-Hexahedra Spectral Elements

Gianmauro Cuccuru, Giorgio Fotia, James Southern, 2015, BioMed research international.

Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis

M. Ferrari, A. Angius, A. Villa, 2015, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

The Galaxy platform for accessible, reproducible and collaborative biomedical analyses: 2022 update

Christopher B. Barnett, Daniel J. Blankenberg, Ralf J. M. Weber, 2022, Nucleic Acids Res..

An accessible infrastructure for artificial intelligence using a Docker-based JupyterLab in Galaxy

R. Backofen, B. Grüning, G. Cuccuru, 2022, bioRxiv.

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.

G. Zampino, A. Angius, L. Crisponi, 2016, American journal of human genetics.

Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report

F. Cucca, A. Angius, L. Crisponi, 2019, BMC Medical Genetics.

Bacterial Genomic Data Analysis in the Next-Generation Sequencing Era.

Massimiliano Orsini, Gianmauro Cuccuru, Paolo Uva, 2016, Methods in molecular biology.

Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis

Gianmauro Cuccuru, Carlo Sidore, Francesco Cucca, 2010, Nature Genetics.

Orione, a web-based framework for NGS analysis in microbiology

Andrea Pinna, Massimiliano Orsini, Gianmauro Cuccuru, 2014, Bioinform..

Genome-wide association study of susceptibility loci for breast cancer in Sardinian population

G. Abecasis, D. Schlessinger, S. Chanock, 2015, BMC Cancer.

The PARIGA Server for Real Time Filtering and Analysis of Reciprocal BLAST Results

Anna Tramontano, Massimiliano Orsini, Gianmauro Cuccuru, 2013, PloS one.

Overexpression of the Cytokine BAFF and Autoimmunity Risk

Joseph H. Marcus, G. Abecasis, D. Schlessinger, 2017, The New England journal of medicine.

BioBlend.objects: metacomputing with Galaxy

Gianmauro Cuccuru, Nicola Soranzo, Enis Afgan, 2014, Bioinform..

Tools and data services registry: a community effort to document bioinformatics resources

Silvio C. E. Tosatto, Anthony Bretaudeau, Burkhard Rost, 2015, Nucleic Acids Res..

Fast low-memory streaming MLS reconstruction of point-sampled surfaces

Renato Pajarola, Gianmauro Cuccuru, Ruggero Pintus, 2009, Graphics Interface.

Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses

F. Muntoni, F. Cucca, A. Fry, 2019, Clinical genetics.

Title : Exome sequencing in Crisponi / CISS-like individuals reveals unpredicted alternative diagnoses

F. Muntoni, F. Cucca, A. Fry, 2019 .

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.

G. Zampino, A. Angius, L. Crisponi, 2018, American journal of human genetics.

A Robust And Extensible Framework For Tracking Biodata Provenance, Analysis Workflows And Results

Gianmauro Cuccuru, Giorgio Fotia, Luca Pireddu, 2016 .

Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP

R. Hennekam, F. Cucca, A. Angius, 2019, American journal of medical genetics. Part A.

Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome

F. Cucca, A. Angius, L. Crisponi, 2018, Clinical genetics.

Tools and data services registry: a community effort to document bioinformatics resources

Silvio C. E. Tosatto, Radka Svobodová Vareková, Victor de la Torre, 2015, Nucleic Acids Res..

An automated infrastructure to support high-throughput bioinformatics

Andrea Pinna, Gianmauro Cuccuru, Giorgio Fotia, 2014, 2014 International Conference on High Performance Computing & Simulation (HPCS).

Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis

L. Liang, G. Abecasis, D. Schlessinger, 2010, Nature Genetics.

Expanding the Galaxy’s reference data

Daniel J. Blankenberg, H. Hotz, Jennifer Hillman-Jackson, 2022, Bioinformatics Advances.

Expanding the Galaxy’s reference data

Nathan C. Sheffield, Daniel J. Blankenberg, N. Soranzo, 2020, bioRxiv.