PhenPath: a tool for characterizing biological functions underlying different phenotypes

nork Babbi, Giulia, Martelli, Pier Luigi, Casadio, Rita
Argitaratua izan da BMC Genomics (2019)

Functional and Structural Features of Disease-Related Protein Variants

nork Savojardo, Castrense, Babbi, Giulia, Martelli, Pier Luigi, Casadio, Rita
Argitaratua izan da Int J Mol Sci (2019)

Huntingtin: A Protein with a Peculiar Solvent Accessible Surface

nork Babbi, Giulia, Savojardo, Castrense, Martelli, Pier Luigi, Casadio, Rita
Argitaratua izan da Int J Mol Sci (2021)

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

nork Savojardo, Castrense, Babbi, Giulia, Martelli, Pier Luigi, Casadio, Rita
Argitaratua izan da Front Mol Biosci (2021)

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

nork Babbi, Giulia, Baldazzi, Davide, Savojardo, Castrense, Martelli, Pier Luigi, Casadio, Rita
Argitaratua izan da Biomedicines (2020)

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

nork Martelli, Pier Luigi, Fariselli, Piero, Savojardo, Castrense, Babbi, Giulia, Aggazio, Francesco, Casadio, Rita
Argitaratua izan da BMC Genomics (2016)

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

nork Babbi, Giulia, Martelli, Pier Luigi, Profiti, Giuseppe, Bovo, Samuele, Savojardo, Castrense, Casadio, Rita
Argitaratua izan da BMC Genomics (2017)

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

nork Savojardo, Castrense, Babbi, Giulia, Bovo, Samuele, Capriotti, Emidio, Martelli, Pier Luigi, Casadio, Rita
Argitaratua izan da Hum Mutat (2019)

Benchmarking predictions of allostery in liver pyruvate kinase in CAGI4

nork Xu, Qifang, Tang, Qingling, Katsonis, Panagiotis, Lichtarge, Olivier, Jones, David, Bovo, Samuele, Babbi, Giulia, Martelli, Pier L., Casadio, Rita, Lee, Gyu Rie, Seok, Chaok, Fenton, Aron W., Dunbrack, Roland L.
Argitaratua izan da Hum Mutat (2017)

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

nork Pejaver, Vikas, Babbi, Giulia, Casadio, Rita, Folkman, Lukas, Katsonis, Panagiotis, Kundu, Kunal, Lichtarge, Olivier, Martelli, Pier Luigi, Miller, Maximillian, Moult, John, Pal, Lipika R., Savojardo, Castrense, Yin, Yizhou, Zhou, Yaoqi, Radivojac, Predrag, Bromberg, Yana
Argitaratua izan da Hum Mutat (2019)

Assessing predictions on fitness effects of missense variants in calmodulin

nork Zhang, Jing, Kinch, Lisa N., Cong, Qian, Katsonis, Panagiotis, Lichtarge, Olivier, Savojardo, Castrense, Babbi, Giulia, Martelli, Pier Luigi, Capriotti, Emidio, Casadio, Rita, Garg, Aditi, Pal, Debnath, Weile, Jochen, Sun, Song, Verby, Marta, Roth, Frederick P., Grishin, Nick V.
Argitaratua izan da Hum Mutat (2019)

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

nork Savojardo, Castrense, Petrosino, Maria, Babbi, Giulia, Bovo, Samuele, Corbi-Verge, Carles, Casadio, Rita, Fariselli, Piero, Folkman, Lukas, Garg, Aditi, Karimi, Mostafa, Katsonis, Panagiotis, Kim, Philip M., Lichtarge, Olivier, Martelli, Pier Luigi, Pasquo, Alessandra, Pal, Debnath, Shen, Yang, Strokach, Alexey V., Turina, Paola, Zhou, Yaoqi, Andreoletti, Gaia, Brenner, Steven, Chiaraluce, Roberta, Consalvi, Valerio, Capriotti, Emidio
Argitaratua izan da Hum Mutat (2019)

Performance of computational methods for the evaluation of Pericentriolar Material 1 missense variants in CAGI-5

nork Monzon, Alexander Miguel, Carraro, Marco, Chiricosta, Luigi, Reggiani, Francesco, Han, James, Ozturk, Kivilcim, Wang, Yanran, Miller, Maximilian, Bromberg, Yana, Capriotti, Emidio, Savojardo, Castrense, Babbi, Giulia, Martelli, Pier Luigi, Casadio, Rita, Katsonis, Panagiotis, Lichtarge, Olivier, Carter, Hannah, Kousi, Maria, Katsanis, Nicholas, Andreoletti, Gaia, Moult, John, Brenner, Steven E., Ferrari, Carlo, Leonardi, Emanuela, Tosatto, Silvio C.E.
Argitaratua izan da Hum Mutat (2019)

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

nork Voskanian, Alin, Katsonis, Panagiotis, Lichtarge, Olivier, Pejaver, Vikas, Radivojac, Predrag, Mooney, Sean D., Capriotti, Emidio, Bromberg, Yana, Wang, Yanran, Miller, Max, Martelli, Pier Luigi, Savojardo, Castrense, Babbi, Giulia, Casadio, Rita, Cao, Yue, Sun, Yuanfei, Shen, Yang, Garg, Aditi, Pal, Debnath, Yu, Yao, Huff, Chad D., Tavtigian, Sean V., Young, Erin, Neuhausen, Susan L., Ziv, Elad, Pal, Lipika R., Andreoletti, Gaia, Brenner, Steven, Kann, Maricel G.
Argitaratua izan da Hum Mutat (2019)

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

nork Kasak, Laura, Hunter, Jesse M., Udani, Rupa, Bakolitsa, Constantina, Hu, Zhiqiang, Adhikari, Aashish N., Babbi, Giulia, Casadio, Rita, Gough, Julian, Guerrero, Rafael F., Jiang, Yuxiang, Joseph, Thomas, Katsonis, Panagiotis, Kotte, Sujatha, Kundu, Kunal, Lichtarge, Olivier, Martelli, Pier Luigi, Mooney, Sean D., Moult, John, Pal, Lipika R., Poitras, Jennifer, Radivojac, Predrag, Rao, Aditya, Sivadasan, Naveen, Sunderam, Uma, VG, Saipradeep, Yin, Yizhou, Zaucha, Jan, Brenner, Steven E., Meyn, M. Stephen
Argitaratua izan da Hum Mutat (2019)

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

nork Cline, Melissa S., Babbi, Giulia, Bonache, Sandra, Cao, Yue, Casadio, Rita, de la Cruz, Xavier, Díez, Orland, Gutiérrez-Enríquez, Sara, Katsonis, Panagiotis, Lai, Carmen, Lichtarge, Olivier, Martelli, Pier Luigi, Mishne, Gilad, Moles-Fernández, Alejandro, Montalban, Gemma, Mooney, Sean D., O’Conner, Robert, Ootes, Lars, Özkan, Selen, Padilla, Natalia, Pagel, Kymberleigh A., Pejaver, Vikas, Radivojac, Predrag, Riera, Casandra, Savojardo, Castrense, Shen, Yang, Sun, Yuanfei, Topper, Scott, Parsons, Michael T., Spurdle, Amanda B., Goldgar, David E.
Argitaratua izan da Hum Mutat (2019)

Assessment of predicted enzymatic activity of alpha-N-acetylglucosaminidase (NAGLU) variants of unknown significance for CAGI 2016

nork Clark, Wyatt T., Kasak, Laura, Bakolitsa, Constantina, Hu, Zhiqiang, Andreoletti, Gaia, Babbi, Giulia, Bromberg, Yana, Casadio, Rita, Dunbrack, Roland, Folkman, Lukas, Ford, Colby T., Jones, David, Katsonis, Panagiotis, Kundu, Kunal, Lichtarge, Olivier, Martelli, Pier Luigi, Mooney, Sean D., Nodzak, Conor, Pal, Lipika R., Radivojac, Predrag, Savojardo, Castrense, Shi, Xinghua, Zhou, Yaoqi, Uppal, Aneeta, Xu, Qifang, Yin, Yizhou, Pejaver, Vikas, Wang, Meng, Wei, Liping, Moult, John, Yu, G. Karen, Brenner, Steven E., LeBowitz, Jonathan H.
Argitaratua izan da Hum Mutat (2019)

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

nork Daneshjou, Roxana, Wang, Yanran, Bromberg, Yana, Bovo, Samuele, Martelli, Pier L, Babbi, Giulia, Di Lena, Pietro, Casadio, Rita, Edwards, Matthew, Gifford, David, Jones, David T, Sundaram, Laksshman, Bhat, Rajendra, Li, Xiaolin, Pal, Lipika R., Kundu, Kunal, Yin, Yizhou, Moult, John, Jiang, Yuxiang, Pejaver, Vikas, Pagel, Kymberleigh A., Li, Biao, Mooney, Sean D., Radivojac, Predrag, Shah, Sohela, Carraro, Marco, Gasparini, Alessandra, Leonardi, Emanuela, Giollo, Manuel, Ferrari, Carlo, Tosatto, Silvio C E, Bachar, Eran, Azaria, Johnathan R., Ofran, Yanay, Unger, Ron, Niroula, Abhishek, Vihinen, Mauno, Chang, Billy, Wang, Maggie H, Franke, Andre, Petersen, Britt-Sabina, Pirooznia, Mehdi, Zandi, Peter, McCombie, Richard, Potash, James B, Altman, Russ, Klein, Teri E., Hoskins, Roger, Repo, Susanna, Brenner, Steve E, Morgan, Alexander A
Argitaratua izan da Hum Mutat (2017)