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Works (15)

Digenic variant interpretation with hypothesis-driven explainable AI

2023-10-03 | Preprint
DOI: 10.1101/2023.10.02.560464
Contributors: Federica De Paoli; Giovanna Nicora; Silvia Berardelli; Andrea Gazzo; Riccardo Bellazzi; Paolo Magni; Ettore Rizzo; Ivan Limongelli; Susanna Zucca
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A Topological Data Analysis Mapper of the Ovarian Folliculogenesis Based on MALDI Mass Spectrometry Imaging Proteomics

2021 | Book chapter
DOI: 10.1007/978-3-030-77211-6_5
Contributors: Giulia Campi; Giovanna Nicora; Giulia Fiorentino; Andrew Smith; Fulvio Magni; Silvia Garagna; Maurizio Zuccotti; Riccardo Bellazzi
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A Rule-Based Expert System for Automatic Implementation of Somatic Variant Clinical Interpretation Guidelines

2019 | Book chapter
DOI: 10.1007/978-3-030-21642-9_15
Contributors: Giovanna Nicora; Ivan Limongelli; Riccardo Cova; Matteo Giovanni Della Porta; Luca Malcovati; Mario Cazzola; Riccardo Bellazzi
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A Semi-supervised Learning Approach for Pan-Cancer Somatic Genomic Variant Classification

2019 | Book chapter
DOI: 10.1007/978-3-030-21642-9_7
Contributors: Giovanna Nicora; Simone Marini; Ivan Limongelli; Ettore Rizzo; Stefano Montoli; Francesca Floriana Tricomi; Riccardo Bellazzi
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MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome

European Journal of Human Genetics
2017-05-15 | Journal article
DOI: 10.1038/ejhg.2017.5
Contributors: Annalisa Vetro; Salvatore Savasta; Annalisa Russo Raucci; Cristina Cerqua; Geppo Sartori; Ivan Limongelli; Antonella Forlino; Silvia Maruelli; Paola Perucca; Debora Vergani et al.
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BigQ: a NoSQL based framework to handle genomic variants in i2b2.

2015 | Journal article
DOI: 10.1186/s12859-015-0861-0
PMID: 26714792
PMC: PMC4696314
Contributors: Gabetta M; Limongelli I; Rizzo E; Riva A; Segagni D; Bellazzi R
Source: Self-asserted source
ivan limongelli via Europe PubMed Central

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

2015 | Journal article
DOI: 10.1186/s12859-015-0554-8
PMID: 25928477
PMC: PMC4411653
Contributors: Limongelli I; Marini S; Bellazzi R
Source: Self-asserted source
ivan limongelli via Europe PubMed Central

Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure

European Journal of Human Genetics
2015-09 | Journal article
DOI: 10.1038/ejhg.2014.277
Contributors: Maria Andrea Desbats; Annalisa Vetro; Ivan Limongelli; Giada Lunardi; Alberto Casarin; Mara Doimo; Marco Spinazzi; Corrado Angelini; Giovanna Cenacchi; Alberto Burlina et al.
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Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association.

2015-05 | Journal article
DOI: 10.1002/humu.22784
PMID: 25754594
Contributors: Vetro A; Iascone M; Limongelli I; Ameziane N; Gana S; Della Mina E; Giussani U; Ciccone R; Forlino A; Pezzoli L et al.
Source: Self-asserted source
ivan limongelli via Europe PubMed Central

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

2015-04 | Journal article
DOI: 10.1002/ajmg.a.36907
PMID: 25706114
Contributors: Decio A; Tonduti D; Pichiecchio A; Vetro A; Ciccone R; Limongelli I; Giorda R; Caffi L; Balottin U; Zuffardi O et al.
Source: Self-asserted source
ivan limongelli via Europe PubMed Central

Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform

European Journal of Human Genetics
2015-03 | Journal article
DOI: 10.1038/ejhg.2014.92
Contributors: Erika Della Mina; Roberto Ciccone; Francesca Brustia; Baran Bayindir; Ivan Limongelli; Annalisa Vetro; Maria Iascone; Laura Pezzoli; Riccardo Bellazzi; Gianfranco Perotti et al.
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A kinetic model-based algorithm to classify NGS short reads by their allele origin.

2015-02 | Journal article
DOI: 10.1016/j.jbi.2014.10.001
PMID: 25311269
Contributors: Marinoni A; Rizzo E; Limongelli I; Gamba P; Bellazzi R
Source: Self-asserted source
ivan limongelli via Europe PubMed Central

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

2014-06 | Journal article
DOI: 10.1212/WNL.0000000000000476
PMID: 24808015
Contributors: Di Fonzo A; Ronchi D; Gallia F; Cribiù FM; Trezzi I; Vetro A; Della Mina E; Limongelli I; Bellazzi R; Ricca I et al.
Source: Self-asserted source
ivan limongelli via Europe PubMed Central

Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene.

2013-10 | Journal article
DOI: 10.1016/j.ejmg.2013.08.003
PMID: 23999105
Contributors: Bayindir B; Piazza E; Della Mina E; Limongelli I; Brustia F; Ciccone R; Veggiotti P; Zuffardi O; Dehghani MR
Source: Self-asserted source
ivan limongelli via Europe PubMed Central

Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.

2013-05 | Journal article
DOI: 10.1182/blood-2013-02-482489
PMID: 23479567
Contributors: Andolfo I; Alper SL; De Franceschi L; Auriemma C; Russo R; De Falco L; Vallefuoco F; Esposito MR; Vandorpe DH; Shmukler BE et al.
Source: Self-asserted source
ivan limongelli via Europe PubMed Central
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