M. Rusmini

发表

Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases

R. Ravazzolo, A. Martini, I. Ceccherini, 2015, Annals of the rheumatic diseases.

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

S. Gustincich, D. Vozzi, R. Sanges, 2021, Clinical immunology.

Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction

H. Hakonarson, R. Ravazzolo, Yiran Guo, 2016, European Journal of Human Genetics.

CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever

E. Lanino, A. Martini, P. Uva, 2018, Front. Immunol..

Targeted re-sequencing in pediatric and perinatal stroke.

L. Ramenghi, M. Severino, D. Tortora, 2020, European journal of medical genetics.

ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum.

P. Striano, M. Severino, D. Tortora, 2018, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Genetic and epigenetic factors affect RET gene expression in breast cancer cell lines and influence survival in patients

P. Bruzzi, O. Garrone, M. Merlano, 2016, OncoTarget.

Allele‐Specific Expression at the RET Locus in Blood and Gut Tissue of Individuals Carrying Risk Alleles for Hirschsprung Disease

R. Ravazzolo, X. Miao, M. Musso, 2013, Human mutation.

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

T. Pippucci, P. Uva, E. Biagi, 2022, International journal of molecular sciences.

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

M. Severino, I. Ceccherini, M. Faraci, 2021, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.

Whole exome sequencing approach to childhood onset familial erythrodermic psoriasis unravels a novel mutation of CARD14 requiring unusual high doses of ustekinumab

A. Orlandi, A. Martini, I. Ceccherini, 2019, Pediatric Rheumatology.

Association of Pyoderma Gangrenosum, Acne, and Suppurative Hidradenitis (PASH) Shares Genetic and Cytokine Profiles With Other Autoinflammatory Diseases

D. Fanoni, C. De Simone, P. Meroni, 2014, Medicine.

Induction of RET Dependent and Independent Pro-Inflammatory Programs in Human Peripheral Blood Mononuclear Cells from Hirschsprung Patients

R. Ravazzolo, W. Pavan, G. Mattioli, 2013, PloS one.

Next generation sequencing panel in undifferentiated autoinflammatory diseases identify patients with colchicine-responder recurrent fevers.

M. van Gijn, I. Ceccherini, L. Obici, 2019, Rheumatology.

210 Genetic and epigenetic factors affect RET gene expression in breast cancer cell lines and influence survival in patients

P. Bruzzi, A. Sardo, O. Garrone, 2015 .

Genetic Aspects of Investigating and Understanding Autoinflammation

I. Ceccherini, J. Aróstegui, M. Rusmini, 2019, Textbook of Autoinflammation.