G. Babbi

发表

PhenPath: a tool for characterizing biological functions underlying different phenotypes

R. Casadio, P. Martelli, Giulia Babbi, 2019, BMC Genomics.

Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI‐5

Olivier Lichtarge, Emidio Capriotti, Kivilcim Ozturk, 2019, Human mutation.

Large scale analysis of protein stability in OMIM disease related human protein variants

R. Casadio, P. Fariselli, P. Martelli, 2016, BMC Genomics.

Large scale analysis of protein stability in OMIM disease related human protein variants

R. Casadio, P. Fariselli, P. Martelli, 2016, BMC Genomics.

Influence of body lesion severity on oxidative status and gut microbiota of weaned pigs.

S. Rampelli, S. Turroni, P. Brigidi, 2023, Animal : an international journal of animal bioscience.

Huntingtin: A Protein with a Peculiar Solvent Accessible Surface

R. Casadio, P. Martelli, Castrense Savojardo, 2021, International journal of molecular sciences.

Resources and tools for rare disease variant interpretation

E. Capriotti, R. Casadio, S. Pascarella, 2023, Frontiers in Molecular Biosciences.

Human Mutation

E. Capriotti, R. Casadio, P. Martelli, 2019 .

Mapping human disease-associated enzymes into Reactome allows characterization of disease groups and their interactions

R. Casadio, P. Martelli, Giulia Babbi, 2022, Scientific Reports.

Mutant MYO1F alters the mitochondrial network and induces tumor proliferation in thyroid cancer

A. Bowcock, R. Casadio, E. Bonora, 2018, International journal of cancer.

Mouse Genomic Associations with Ex Vivo Sensitivity to Simulated Space Radiation

Tin Chi Nguyen, G. Karpen, Sasha A. Langley, 2021, bioRxiv.

Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancer

Olivier Lichtarge, Predrag Radivojac, Emidio Capriotti, 2019, Human mutation.

Evaluating the predictions of the protein stability change upon single amino acid substitutions for the FXN CAGI5 challenge

Philip M. Kim, S. Brenner, E. Capriotti, 2019, Human mutation.

Assessing predictions on fitness effects of missense variants in calmodulin

N. Grishin, E. Capriotti, R. Casadio, 2019, Human mutation.

Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants

P. Radivojac, R. Casadio, O. Lichtarge, 2019, Human mutation.

Mapping OMIM Disease–Related Variations on Protein Domains Reveals an Association Among Variation Type, Pfam Models, and Disease Classes

R. Casadio, P. Martelli, Castrense Savojardo, 2021, Frontiers in Molecular Biosciences.

Assessment of predicted enzymatic activity of α‐N‐acetylglucosaminidase variants of unknown significance for CAGI 2016

Roland L. Dunbrack, Colby T. Ford, David T. Jones, 2019, Human mutation.

Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project

Julius O. B. Jacobsen, Fullerton, Azza, 2023, medRxiv.

Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges

Silvio C. E. Tosatto, Alexander A. Morgan, Yanay Ofran, 2017, Human mutation.

Pathogenic variation types in human genes relate to diseases through Pfam and InterPro mapping

R. Casadio, P. Martelli, Giulia Babbi, 2022, Frontiers in Molecular Biosciences.

Human Mutation

Guillermo del Angel, Lipika R. Pal, P. Radivojac, 2019 .

eDGAR: a database of Disease-Gene Associations with annotated Relationships among genes

Castrense Savojardo, Pier Luigi Martelli, Rita Casadio, 2017, BMC Genomics.

Are machine learning based methods suited to address complex biological problems? Lessons from CAGI‐5 challenges

E. Capriotti, R. Casadio, P. Martelli, 2019, Human mutation.

Benchmarking predictions of allostery in liver pyruvate kinase in CAGI4

Olivier Lichtarge, Roland L Dunbrack, Qifang Xu, 2017, Human mutation.

Highlighting Human Enzymes Active in Different Metabolic Pathways and Diseases: The Case Study of EC 1.2.3.1 and EC 2.3.1.9

R. Casadio, Castrense Savojardo, D. Baldazzi, 2020, Biomedicines.

CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases

Aashish N. Adhikari, Lipika R. Pal, J. Gough, 2019, Human mutation.

Mouse genomic associations with in vitro sensitivity to simulated space radiation.

Tin Chi Nguyen, G. Karpen, Sasha A. Langley, 2022, Life sciences in space research.

Assessing predictions on fitness effects of missense variants in calmodulin

N. Grishin, E. Capriotti, R. Casadio, 2019, Human mutation.

Human Mutation

Colby T. Ford, Lipika R. Pal, Meng Wang, 2019 .

A Glance into MTHFR Deficiency at a Molecular Level

R. Casadio, P. Martelli, Castrense Savojardo, 2021, International journal of molecular sciences.

CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

Silvio C. E. Tosatto, Julius O. B. Jacobsen, Nicholas A. Sinnott-Armstrong, 2024, Genome biology.

Dispersion of antimicrobial resistant bacteria in pig farms and in the surrounding environment

C. Laczny, S. Rampelli, S. Turroni, 2024, Animal Microbiome.

Assessment of methods for predicting the effects of PTEN and TPMT protein variants

Lipika R. Pal, Yaoqi Zhou, P. Radivojac, 2019, Human mutation.

CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

Nicholas A. Sinnott-Armstrong, Jonathan M. Mudge, Hui Ting Grace Yeo, 2022, Genome biology.

Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A

P. Radivojac, W. Clark, R. Casadio, 2024, bioRxiv.

Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers

P. Radivojac, R. Casadio, A. O’Donnell-Luria, 2024, Research square.