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

Angelo Valerio Marzano, Isabella Ceccherini, Marco Gattorno, +9

Medicine

Pyoderma GangrenosumSystemic DiseasesImmunodeficienciesImmunologyImmune Regulation +22

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

Marta Rusmini, Silvia Federici, Francesco Caroli, +14

Annals of the Rheumatic Diseases

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

Riccardo Papa, Marta Rusmini, Stefano Volpi, +12

Lara D. Veeken

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

Marta Rusmini, Paola Griseri, Francesca Lantieri, +13

PLoS ONE

Cell TherapyAdaptive Immune SystemImmunologyImmune RegulationPathology +28

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, +16

European Journal of Human Genetics

Chronic Intestinal Pseudo-obstructionGeneticsPathogenesisGastroenterologyPathology +4

Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia

Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, +102

Brain

GeneticsBiallelic Hpdl VariantsPathologyMolecular BiologyDisease Gene Identification +18

Novel spondyloepimetaphyseal dysplasia due to <i>UFSP2</i> gene mutation

Maja Di Rocco, Marta Rusmini, Francesco Caroli, +4

Clinical Genetics

Next-Generation Sequencing Workflow for NSCLC Critical Samples Using a Targeted Sequencing Approach by Ion Torrent PGM™ Platform

Irene Vanni, Simona Coco, Anna Truini, +11

International Journal of Molecular Sciences

EngineeringGeneticsMolecular BiologyPathologyGenomics +22

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

Sara Signa, Elena Campione, Marta Rusmini, +12

Pediatric Rheumatology

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, +7

Oncotarget