Marta Rusmini

Genoa, Italy

Last Updated: 09/26/2026

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Found 33 publications

Human GPR174 deficiency drives polyclonal lymphoproliferative disease via defects in T cell function.

Human GPR174 deficiency drives polyclonal lymphoproliferative disease via defects in T cell function.

Journal: medRxiv : the preprint server for health sciences

Published: July 30, 2026

Machine learning, whole genome sequencing, and Mendelian randomization support a role of CRP on COVID-19 severity.

Machine learning, whole genome sequencing, and Mendelian randomization support a role of CRP on COVID-19 severity.

Journal: Molecular medicine (Cambridge, Mass.)

Published: February 19, 2026

ABCC6 Heterozygosity as Genetic Predisposition to Cerebrovascular Disease Across Ages.

ABCC6 Heterozygosity as Genetic Predisposition to Cerebrovascular Disease Across Ages.

Journal: Genes

Published: December 09, 2025

Uncommon causal variants of the ADA2 gene in patients with reduced enzyme activity and nonconfirmatory genetic testing.

Uncommon causal variants of the ADA2 gene in patients with reduced enzyme activity and nonconfirmatory genetic testing.

Journal: The journal of allergy and clinical immunology. In practice

Published: July 27, 2025

Genetic Landscape of Non-Remitting Neutropenia in Children and Chronic Idiopathic Neutropenia in Adults.

Genetic Landscape of Non-Remitting Neutropenia in Children and Chronic Idiopathic Neutropenia in Adults.

Journal: International journal of molecular sciences

Published: June 11, 2025

Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene.

Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene.

Journal: International journal of molecular sciences

Published: December 12, 2023

Editorial: Elucidation of the causes of human disease by multi-omics integration.

Editorial: Elucidation of the causes of human disease by multi-omics integration.

Journal: Frontiers in genetics

Published: August 02, 2023

Exploration of Tools for the Interpretation of Human Non-Coding Variants.

Exploration of Tools for the Interpretation of Human Non-Coding Variants.

Journal: International journal of molecular sciences

Published: September 23, 2022

Whole genome sequencing in ROHHAD trios proved inconclusive: what's beyond?

Whole genome sequencing in ROHHAD trios proved inconclusive: what's beyond?

Journal: Frontiers in genetics

Published: August 29, 2022

Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report.

Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report.

Journal: Frontiers in immunology

Published: March 09, 2022

Progression of non-hematologic manifestations in SAMD9L-associated autoinflammatory disease (SAAD) after hematopoietic stem cell transplantation.

Progression of non-hematologic manifestations in SAMD9L-associated autoinflammatory disease (SAAD) after hematopoietic stem cell transplantation.

Journal: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology

Published: August 15, 2021

Type I interferon activation in RAS-associated autoimmune leukoproliferative disease (RALD).

Type I interferon activation in RAS-associated autoimmune leukoproliferative disease (RALD).

Journal: Clinical immunology (Orlando, Fla.)

Published: June 04, 2021

Showing 1-12 of 33

Last Updated: 09/26/2026