Ivan Limongelli

Ivan Limongelli

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Ivan Limongelli

Ivan Limongelli

Publications by authors named "Ivan Limongelli"

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CardioVAI: An automatic implementation of ACMG-AMP variant interpretation guidelines in the diagnosis of cardiovascular diseases.

Hum Mutat 2018 12 19;39(12):1835-1846. Epub 2018 Oct 19.

Department of Electrical, Computer and Biomedical Engineering, University of Pavia, Pavia, Italy.

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http://doi.wiley.com/10.1002/humu.23665
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http://dx.doi.org/10.1002/humu.23665DOI Listing
December 2018

Clinical Effects of Driver Somatic Mutations on the Outcomes of Patients With Myelodysplastic Syndromes Treated With Allogeneic Hematopoietic Stem-Cell Transplantation.

J Clin Oncol 2016 Oct;34(30):3627-3637

Matteo G. Della Porta, Anna Gallì, Silvia Zibellini, Ettore Rizzo, Marianna Rossi, Marta Ubezio, Virginia V. Ferretti, Silvia Catricalà, Chiara Milanesi, Emilio P. Alessandrino, and Mario Cazzola, Fondazione IRCCS Policlinico, San Matteo; Matteo G. Della Porta, Alberto Malovini, Ivan Limongelli, Riccardo Bellazzi, and Mario Cazzola, University of Pavia, Pavia; Andrea Bacigalupo, Maria Teresa van Lint, Sarah Pozzi, and Silvia Luchetti, San Martino Hospital, Genova; Massimo Bernardi, Cristina Tresoldi, and Fabio Ciceri, San Raffaele Scientific Institute; Paola Marenco and Laura Pezzetti, Ospedale Niguarda Ca' Granda, Milan; Bernardino Allione and Benedetto Bruno, University of Torino, Torino; Pietro Pioltelli, Ospedale San Gerardo, Monza; Alberto Bosi, Azienda Ospedaliera Universitaria Careggi, Florence; Maria Teresa Voso and Simona Sica, Catholic University of the Sacred Heart, Rome; Mariella Cuzzola, Azienda Ospedaliera Bianchi Melacrino Morelli, Reggio Calabria; Emanuele Angelucci, Ospedale Oncologico di Riferimento Regionale A. Businco, Cagliari; Orietta Spinelli and Alessandro Rambaldi, Azienda Ospedaliera Papa Giovanni XXIII, Bergamo; Francesca Bonifazi, University of Bologna, Bologna; Armando Santoro, Humanitas University, Rozzano, Italy; Alberto Riva, University of Florida, Gainesville, FL; and Elli Papaemmanuil, Memorial Sloan-Kettering Cancer Center, New York, NY.

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http://dx.doi.org/10.1200/JCO.2016.67.3616DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6366344PMC
October 2016

BigQ: a NoSQL based framework to handle genomic variants in i2b2.

BMC Bioinformatics 2015 Dec 29;16:415. Epub 2015 Dec 29.

Dipartimento di Ingegneria Industriale e dell'Informazione and Center for Health Technologies, Università di Pavia, Pavia, Italy.

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http://dx.doi.org/10.1186/s12859-015-0861-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4696314PMC
December 2015

A novel mutation in COL4A1 gene: a possible cause of early postnatal cerebrovascular events.

Am J Med Genet A 2015 Apr 23;167A(4):810-5. Epub 2015 Feb 23.

Child Neurology and Psychiatry Unit, Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36907DOI Listing
April 2015

PaPI: pseudo amino acid composition to score human protein-coding variants.

BMC Bioinformatics 2015 Apr 19;16:123. Epub 2015 Apr 19.

Department of Electrical, Computer and Biomedical Engineering, University of Pavia, Via Ferrata 1, 27100, Pavia, Italy.

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http://dx.doi.org/10.1186/s12859-015-0554-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4411653PMC
April 2015

A kinetic model-based algorithm to classify NGS short reads by their allele origin.

J Biomed Inform 2015 Feb 12;53:121-7. Epub 2014 Oct 12.

Department of Electrical, Computer and Biomedical Engineering, University of Pavia, via Ferrata 1, Pavia 27100, Italy.

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http://dx.doi.org/10.1016/j.jbi.2014.10.001DOI Listing
February 2015

Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation.

Neurology 2014 Jun 7;82(22):1990-8. Epub 2014 May 7.

From the Dino Ferrari Center (A.D.F., D.R., I.T., M.R., A.B., F.F., S.S., S.C., N.B., G.P.C.), Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan; Department of Medical Biotechnology and Translational Medicine (F.G., E.N.-O.), 2nd Neurology, Humanitas Clinical and Research Center, Rozzano, Milan; Division of Pathology (F.M.C., S.B.), Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico and Department of Pathophysiology and Transplantation, University of Milan; Departments of Molecular Medicine (A.V., E.D.M., O.Z.), Industrial and Information Engineering (R.B.), and Public Health, Neuroscience, Experimental and Forensic Medicine (M.C.), University of Pavia; Departments of Neurological Emergency (I.L., G. Micieli, O.Z.) and General Neurology (I.R., M.C.), IRCCS C. Mondino National Neurological Institute, Pavia, Italy; Mitochondrial Research Group (E.F.), Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK; and Department of Neurorehabilitation (G. Mora), IRCCS Salvatore Maugeri Foundation, Milan, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000000476DOI Listing
June 2014