I. Limongelli

发表

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

R. Bellazzi, S. Priori, A. Mazzanti, 2018, Human mutation.

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

Riccardo Bellazzi, Ivan Limongelli, Roberto Ciccone, 2014, European Journal of Human Genetics.

Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI‐5 intellectual disability challenge

Silvio C. E. Tosatto, Stephen J. Wilson, Lipika R. Pal, 2019, Human mutation.

Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH

G. Scarano, G. Ranzani, S. Giglio, 2018, Clinical genetics.

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

S. Salani, N. Bresolin, G. Comi, 2014, Neurology.

Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure

C. Angelini, P. Navas, E. Trevisson, 2015, European Journal of Human Genetics.

Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene

S. Zucca, I. Limongelli, C. Danesino, 2022, Genes.

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

Ivan Limongelli, Gordon W Stewart, Achille Iolascon, 2013, Blood.

RED CELLS , IRON , AND ERYTHROPOIESIS Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO 1

S. Schrier, D. Vandorpe, A. Iolascon, 2013 .

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

O. Zuffardi, P. Veggiotti, I. Limongelli, 2013, European journal of medical genetics.

A Data Fusion Approach to Enhance Association Study in Epilepsy

Riccardo Bellazzi, Alberto Malovini, Ivan Limongelli, 2016, PloS one.

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

Paolo Gamba, Riccardo Bellazzi, Andrea Marinoni, 2015, J. Biomed. Informatics.

Loss‐of‐Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association

N. Ameziane, J. Dorsman, O. Zuffardi, 2015, Human mutation.

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

R. Bellazzi, I. Limongelli, Simone Marini, 2015, BMC Bioinformatics.

A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization

R. Bellazzi, P. Magni, S. Zucca, 2022, Scientific Reports.

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

R. Bellazzi, M. Cazzola, E. Papaemmanuil, 2016, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome

G. Mazzini, S. Savasta, A. Mattevi, 2017, European Journal of Human Genetics.

Big Data as a Driver for Clinical Decision Support Systems: A Learning Health Systems Perspective

Riccardo Bellazzi, Andrea Mazzanti, Matteo Gabetta, 2018, Front. Digit. Humanit..

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

A. Pichiecchio, S. Orcesi, R. Giorda, 2015, American journal of medical genetics. Part A.

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

Alberto Riva, Riccardo Bellazzi, Matteo Gabetta, 2015, BMC Bioinformatics.

Digenic variant interpretation with hypothesis-driven explainable AI

S. Zucca, G. Nicora, I. Limongelli, 2023, bioRxiv.

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.

VarChat: the generative AI assistant for the interpretation of human genomic variations

I. Limongelli, Silvia Berardelli, F. De Paoli, 2024, Bioinformatics.

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.

An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases.

I. Limongelli, G. Nicora, M. G. Carta, 2024, Human genetics.

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

Riccardo Bellazzi, Simone Marini, Ivan Limongelli, 2015, BMC Bioinformatics.

Cardiovascular Disease Burden, Mortality and Sudden Death Risk in Epilepsy -- a UK Biobank study.

V. Somers, M. Tristani-Firouzi, I. Limongelli, 2023, The Canadian journal of cardiology.