Marcella Devoto

Pubblicazioni

Titolo Pubblicato in Anno
The intestinal microbiome of inflammatory bowel disease across the pediatric age range GUT MICROBES 2024
Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy EUROPEAN JOURNAL OF NEUROLOGY 2023
Effect of Genetic Factors, Age and Sex on Levels of Circulating Extracellular Vesicles and Platelets INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 2023
Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing? THE JOURNAL OF MOLECULAR DIAGNOSTICS 2022
Genetic Analysis in African American Children Supports Ancestry-Specific Neuroblastoma Susceptibility CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION 2022
Cross-sectional analysis of the humoral response after SARS-CoV-2 vaccination in Sardinian multiple sclerosis patients, a follow-up study FRONTIERS IN IMMUNOLOGY 2022
Large-scale sequencing identifies multiple genes and rare variants associated with Crohn’s disease susceptibility NATURE GENETICS 2022
Clinical and laboratory predictors of monogenic very early onset inflammatory bowel disease CLINICAL IMMUNOLOGY 2022
Colonoids From Patients With Pediatric Inflammatory Bowel Disease Exhibit Decreased Growth Associated With Inflammation Severity and Durable Upregulation of Antigen Presentation Genes INFLAMMATORY BOWEL DISEASES 2021
Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation JOURNAL OF CROHN'S AND COLITIS 2021
Effect of Different Disease-Modifying Therapies on Humoral Response to BNT162b2 Vaccine in Sardinian Multiple Sclerosis Patients FRONTIERS IN IMMUNOLOGY 2021
Immune Dysregulation in Human ITCH Deficiency Successfully Treated with Hematopoietic Cell Transplantation JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. IN PRACTICE 2021
Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations NATURE COMMUNICATIONS 2020
Complex genetic signatures in immune cells underlie autoimmunity and inform therapy NATURE GENETICS 2020
Exome Sequencing in Individuals with Isolated Biliary Atresia SCIENTIFIC REPORTS 2020
Impaired Redox and Protein Homeostasis as Risk Factors and Therapeutic Targets in Toxin-Induced Biliary Atresia GASTROENTEROLOGY 2020
Expanding the spectrum of genes responsible for hereditary motor neuropathies JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY 2019
Exploring shared susceptibility between two neural crest cells originating conditions: neuroblastoma and congenital heart disease GENES 2019
An exploratory association analysis of the insulin gene region with diabetes mellitus in two dog breeds JOURNAL OF HEREDITY 2019
The Unique Disease Course of Children with Very Early Onset-Inflammatory Bowel Disease INFLAMMATORY BOWEL DISEASES 2019

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