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Marta Rusmini

Observed names: M Rusmini, M. Rusmini, Rusmini, Marta
ORCID: 0000-0002-3109-413X
Observed ORCID: 0000-0002-3109-413X
OpenAlex ID: A5010348087
Association of Pyoderma Gangrenosum, Acne, and Suppurative Hidradenitis (PASH) Shares Genetic and Cytokine Profiles With Other Autoinflammatory Diseases
2014 · Angelo V. Marzano, Isabella Ceccherini, et al. · Medicine · 144
Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases
2015 · Marta Rusmini, Silvia Federici, et al. · Annals of the Rheumatic Diseases · 75
Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers
2019 · Riccardo Papa, Marta Rusmini, et al. · Lara D. Veeken · 71
Induction of RET Dependent and Independent Pro-Inflammatory Programs in Human Peripheral Blood Mononuclear Cells from Hirschsprung Patients
2013 · Marta Rusmini, Paola Griseri, et al. · PLoS ONE · 53
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Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
2021 · Manuela Wiessner, Reza Maroofian, et al. · Brain · 52
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Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction
2016 · Ivana Matera, Marta Rusmini, et al. · European Journal of Human Genetics · 52
Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation
2017 · M. Di Rocco, M. Rusmini, et al. · Clinical Genetics · 46
Next-Generation Sequencing Workflow for NSCLC Critical Samples Using a Targeted Sequencing Approach by Ion Torrent PGM™ Platform
2015 · Irene Vanni, Simona Coco, et al. · International Journal of Molecular Sciences · 39
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Whole exome sequencing approach to childhood onset familial erythrodermic psoriasis unravels a novel mutation of CARD14 requiring unusual high doses of ustekinumab
2019 · S. Signa, E. Campione, et al. · Pediatric Rheumatology · 35
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Genetic and epigenetic factors affect RET gene expression in breast cancer cell lines and influence survival in patients
2016 · Paola Griseri, Ornella Garrone, et al. · Oncotarget · 29
CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever
2018 · Roberta Caorsi, Marta Rusmini, et al. · Frontiers in Immunology · 28
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Exploration of Tools for the Interpretation of Human Non-Coding Variants
2022 · Nicole Tabarini, Elena Biagi, et al. · International Journal of Molecular Sciences · 22
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How Genetics Might Explain the Unusual Link Between Malaria and COVID-19
2021 · Marta Rusmini, Paolo Uva, et al. · Frontiers in Medicine · 21
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RET in breast cancer: pathogenic implications and mechanisms of drug resistance
2019 · Cristiana Lo Nigro, Marta Rusmini, et al. · Cancer Drug Resistance · 20
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Targeted re-sequencing in pediatric and perinatal stroke
2020 · Alice Grossi, Mariasavina Severino, et al. · European Journal of Medical Genetics · 19
ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum
2018 · Marta Bertamino, Mariasavina Severino, et al. · European Journal of Paediatric Neurology · 17
Expression Variability and Function of the RET Gene in Adult Peripheral Blood Mononuclear Cells
2014 · Marta Rusmini, Paola Griseri, et al. · Journal of Cellular Physiology · 17
ADA2 deficiency due to a novel structural variation in 22q11.1
2019 · Alice Grossi, Roberto Cusano, et al. · Clinical Genetics · 15
A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease
2020 · Tanja Mederer, Stefanie Schmitteckert, et al. · PLoS Genetics · 12
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Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report
2022 · Giovanni Del Borrello, Maurizio Miano, et al. · Frontiers in Immunology · 11
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Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers
2019 · Riccardo Papa, Marta Rusmini, et al. · Lara D. Veeken · 11
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Whole genome sequencing in ROHHAD trios proved inconclusive: what’s beyond?
2023 · A. Grossi, M. Rusmini, et al. · Frontiers in Genetics · 9
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Type I interferon activation in RAS-associated autoimmune leukoproliferative disease (RALD)
2021 · Riccardo Papa, Marta Rusmini, et al. · Clinical Immunology · 9
Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part two
2017 · on behalf of On behalf of the UK JSLE Cohort Study, Olga Lomakina, et al. · Pediatric Rheumatology · 9
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Progression of non‐hematologic manifestations in SAMD9L‐associated autoinflammatory disease (SAAD) after hematopoietic stem cell transplantation
2021 · Riccardo Papa, Marta Rusmini, et al. · Pediatric Allergy and Immunology · 8
Works count: 57
Citation count: 852
H-index: 17
I10-index: 21
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