Sfoglia per Autore  

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Mostrati risultati da 1 a 16 di 16
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
SARS-CoV-2 variants preferentially emerge at intrinsically disordered protein sites helping immune evasion 2022 Quaglia F.Salladini E.Carraro M.Minervini G.Tosatto S. C. E. + THE FEBS JOURNAL - -
Characterization of intellectual disability and autism comorbidity through gene panel sequencing 2019 Aspromonte M. C.BELLINI, MARIAGRAZIAGasparini A.Carraro M.Bettella E.Polli R.Cesca F.MILANI, DUCCIOSartori S.Toldo I.MARINO BUSLJE, CRISTINA ESTERTosatto S. C. E.Murgia A.Leonardi E. + HUMAN MUTATION - -
The CAFA challenge reports improved protein function prediction and new functional annotations for hundreds of genes through experimental screens 2019 Toppo SLavezzo EFalda MBerselli MTosatto SCECarraro MPiovesan D + GENOME BIOLOGY - -
Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI-5 2019 Monzon A. M.Carraro M.Chiricosta L.Reggiani F.MILLER, HEATHER MARGARET LOUISECasadio R.Ferrari C.Leonardi E.Tosatto S. C. E. + HUMAN MUTATION - -
Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge 2019 Carraro M.Monzon A. M.CHIRICOSTA, LUIGIREGGIANI, FRANCESCOAspromonte M. C.Bellini M.Ferrari C.Murgia A.Tosatto S. C. E.Leonardi E. + HUMAN MUTATION - -
Development of bioinformatics tools to predict disease predisposition from Next Generation Sequencing (NGS) data. 2018 Carraro, Marco - - -
Effective Diagnosis of Neurodevelopmental Disorders (NDDs) by Computational Analysis and Next Generation Sequencing 2018 Maria Cristina AspromonteAlessandra GaspariniRoberta PolliElisa BettellaFederica CescaMarco CarraroStefano SartoriSilvio C. E. TosattoAlessandra MurgiaEmanuela Leonardi - - Effective Diagnosis of Neurodevelopmental Disorders (NDDs) by Computational Analysis and Next Generation Sequencing
High incidence of SHANK3 loss of function mutations in individuals with intellectual disability and autistic traits 2018 M. C. AspromonteAlessandra GaspariniRoberta PolliElisa BettellaFederica CescaM. BelliniStefano SartoriM. CarraroS. C. E. TosattoA. MurgiaE. Leonardi + - - High incidence of SHANK3 loss of function mutations in individuals with intellectual disability and autistic traits
The origin of personalized medicine and the systems biology revolution 2018 Carraro M.Tosatto S. C. E.Rizzuto R. - - P5 Medicine and Justice: Innovation, Unitariness and Evidence
Matching phenotypes to whole genomes: Lessons learned from four iterations of the personal genome project community challenges 2017 Carraro, MarcoGiollo, ManuelFerrari, CarloLeonardi, EmanuelaTosatto, Silvio C. E. + HUMAN MUTATION - -
Lessons from the CAGI-4 Hopkins clinical panel challenge 2017 CARRARO, MARCOGASPARINI, ALESSANDRALEONARDI, EMANUELATOSATTO, SILVIO + HUMAN MUTATION - -
A powerful and cost-efficient human perception system for camera networks and mobile robotics 2017 CARRARO, MARCOMUNARO, MATTEOMENEGATTI, EMANUELE - - Proceedings of the 14th International Conference on Intelligent Autonomous Systems (IAS-14)
TRIO variants in individuals with variable intellectual deficits 2017 Maria Cristina AspromonteAlessandra GaspariniRoberta PolliElisa BettellaFederica CescaStefano SartoriMarco CarraroSilvio C. E. TosattoAlessandra MurgiaEmanuela Leonardi + - - TRIO variants in individuals with variable intellectual deficits
Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI 2017 CARRARO, MARCOMINERVINI, GIOVANNIGIOLLO, MANUELFariselli, PieroFERRARI, CARLOLEONARDI, EMANUELATOSATTO, SILVIO + HUMAN MUTATION - -
Crohn disease risk prediction-Best practices and pitfalls with exome data 2017 GIOLLO, MANUELCARRARO, MARCOLEONARDI, EMANUELAFERRARI, CARLOTOSATTO, SILVIO + HUMAN MUTATION - -
TARGETED GENE PANEL FOR COMORBID NEUROLOGICAL DISORDERS 2016 Maria Cristina AspromonteAlessandra GaspariniMarco CarraroElisa BettellaRoberta PolliFederica CescaStefano SartoriIrene ToldoSilvio C. E. TosattoAlessandra MurgiaEmanuela Leonardi + - - TARGETED GENE PANEL FOR COMORBID NEUROLOGICAL DISORDERS
Mostrati risultati da 1 a 16 di 16
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