Gianmauro Cuccuru

Science And Technology Park Polaris
Pula, Italy

Last Updated: 09/26/2026

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Found 18 publications

Training Infrastructure as a Service.

Training Infrastructure as a Service.

Journal: GigaScience

Published: February 10, 2023

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

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

Journal: GigaScience

Published: August 24, 2022

Expanding the Galaxy's reference data.

Expanding the Galaxy's reference data.

Journal: Bioinformatics advances

Published: November 12, 2021

Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses.

Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses.

Journal: Clinical genetics

Published: December 18, 2018

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

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

Journal: American journal of medical genetics. Part A

Published: November 23, 2018

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

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

Journal: BMC medical genetics

Published: October 15, 2018

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

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

Journal: American journal of human genetics

Published: April 07, 2018

Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome.

Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome.

Journal: Clinical genetics

Published: September 11, 2017

Overexpression of the Cytokine BAFF and Autoimmunity Risk.

Overexpression of the Cytokine BAFF and Autoimmunity Risk.

Journal: The New England journal of medicine

Published: April 27, 2017

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

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

Journal: Methods in molecular biology (Clifton, N.J.)

Published: April 27, 2016

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

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

Journal: American journal of human genetics

Published: February 09, 2016

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

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

Journal: Nucleic acids research

Published: September 17, 2015

Showing 1-12 of 18

Last Updated: 09/26/2026