Publications by authors named "Marta Rusmini"

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Uncommon causal variants of the ADA2 gene in patients with reduced enzyme activity and non-confirmatory genetic testing.
Alice Grossi, Alessia Cafaro, Marta Rusmini, Francesca Rosamilia, Michela Malacarne

J Allergy Clin Immunol Pract· November 2025

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Genetic Landscape of Non-Remitting Neutropenia in Children and Chronic Idiopathic Neutropenia in Adults.
Alice Grossi, Grigorios Tsaknakis, Francesca Rosamilia, Marta Rusmini, Paolo Uva

Int J Mol Sci· July 2025

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Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the Gene.
Maurizio Miano, Nadia Bertola, Alice Grossi, Gianluca Dell'Orso, Stefano Regis, Marta Rusmini

Int J Mol Sci· February 2024

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Editorial: Elucidation of the causes of human disease by multi-omics integration.
Marta Rusmini, Francesca Lantieri

Front Genet· August 2023

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Exploration of Tools for the Interpretation of Human Non-Coding Variants.
Nicole Tabarini, Elena Biagi, Paolo Uva, Emanuela Iovino, Tommaso Pippucci, Marta Rusmini

Int J Mol Sci· October 2022

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Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report.
Giovanni Del Borrello, Maurizio Miano, Concetta Micalizzi, Michela Lupia, Isabella Ceccherini, Marta Rusmini

Front Immunol· June 2022

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Progression of non-hematologic manifestations in SAMD9L-associated autoinflammatory disease (SAAD) after hematopoietic stem cell transplantation.
Riccardo Papa, Marta Rusmini, Stefano Volpi, Gianluca Dell'Orso, Maria Carla Giarratana

Pediatr Allergy Immunol· January 2022

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Type I interferon activation in RAS-associated autoimmune leukoproliferative disease (RALD).
Riccardo Papa, Marta Rusmini, Francesca Schena, Elisabetta Traggiai, Maria Cristina Coccia

Clin Immunol· October 2021

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Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Andrea Pedroni, Juliane S Müller, Marta Rusmini

Brain· September 2021

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Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Andrea Pedroni, Juliane S Müller, Marta Rusmini

Brain· June 2021

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How Genetics Might Explain the Unusual Link Between Malaria and COVID-19.
Marta Rusmini, Paolo Uva, Antonio Amoroso, Manlio Tolomeo, Andrea Cavalli

Front Med (Lausanne)· April 2021

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Targeted re-sequencing in pediatric and perinatal stroke.
Alice Grossi, Mariasavina Severino, Marta Rusmini, Domenico Tortora, Luca A Ramenghi

Eur J Med Genet· November 2020

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A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease.
Tanja Mederer, Stefanie Schmitteckert, Julia Volz, Cristina Martínez, Ralph Röth, Marta Rusmini

PLoS Genet· November 2020

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Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers.
Riccardo Papa, Marta Rusmini, Stefano Volpi, Roberta Caorsi, Paolo Picco

Rheumatology (Oxford)· February 2020

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Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers.
Riccardo Papa, Marta Rusmini, Stefano Volpi, Roberta Caorsi, Paolo Picco

Rheumatology (Oxford)· February 2020

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RET in breast cancer: pathogenic implications and mechanisms of drug resistance.
Cristiana Lo Nigro, Marta Rusmini, Isabella Ceccherini

Cancer Drug Resist· December 2019

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ADA2 deficiency due to a novel structural variation in 22q11.1.
Alice Grossi, Roberto Cusano, Marta Rusmini, Federica Penco, Francesca Schena

Clin Genet· June 2019

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ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum.
Marta Bertamino, Mariasavina Severino, Alice Grossi, Marta Rusmini, Domenico Tortora

Eur J Paediatr Neurol· July 2018

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CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever.
Roberta Caorsi, Marta Rusmini, Stefano Volpi, Sabrina Chiesa, Claudia Pastorino

Front Immunol· January 2018

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Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.
Marta Rusmini, Silvia Federici, Francesco Caroli, Alice Grossi, Maurizia Baldi

Ann Rheum Dis· August 2016

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Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction.
Ivana Matera, Marta Rusmini, Yiran Guo, Margherita Lerone, Jiankang Li

Eur J Hum Genet· August 2016

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Genetic and epigenetic factors affect RET gene expression in breast cancer cell lines and influence survival in patients.
Paola Griseri, Ornella Garrone, Alessandra Lo Sardo, Martino Monteverde, Marta Rusmini

Oncotarget· May 2016

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Next-Generation Sequencing Workflow for NSCLC Critical Samples Using a Targeted Sequencing Approach by Ion Torrent PGM™ Platform.
Irene Vanni, Simona Coco, Anna Truini, Marta Rusmini, Maria Giovanna Dal Bello

Int J Mol Sci· December 2015

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Expression variability and function of the RET gene in adult peripheral blood mononuclear cells.
Marta Rusmini, Paola Griseri, Ivana Matera, Elena Pontarini, Roberto Ravazzolo

J Cell Physiol· December 2014

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Association of pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH) shares genetic and cytokine profiles with other autoinflammatory diseases.
Angelo V Marzano, Isabella Ceccherini, Marco Gattorno, Daniele Fanoni, Francesco Caroli, Marta Rusmini

Medicine (Baltimore)· December 2014

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