E. Salvatici

Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

Yanick J. Crow, Diana Chase, Johanna L. Schmidt et al. · American Journal of Medical Genetics Part A · 2015 · 613 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Gillian Rice, Yoandris del Toro Duany, Emma M. Jenkinson et al. · Nature Genetics · 2014 · 591 citations · Full text

Life Sciences, Genetics, Molecular Biology +16

A Specific Prebiotic Mixture Added to Starting Infant Formula Has Long-Lasting Bifidogenic Effects

Filippo Salvini, Enrica Riva, E. Salvatici et al. · Journal of Nutrition · 2011 · 95 citations · Full text

Life Sciences, Nutrition, Pediatrics +10

Phenylketonuria: nutritional advances and challenges

Marcello Giovannini, Elvira Verduci, E. Salvatici et al. · Nutrition & Metabolism · 2012 · 94 citations · Full text

Agriculture, Nutrition, Nutritional Sciences +13

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review

Jessica Garau, Vanessa Cavallera, Marialuisa Valente et al. · Journal of Clinical Medicine · 2019 · 45 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17