Erika Della Mina

Type I interferon-mediated autoinflammation due to DNase II deficiency

Mathieu P. Rodero, Alessandra Tesser, Eva Bartok et al. · Nature Communications · 2017 · 217 citations · Full text

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

Nicola Brunetti‐Pierri, Alex R. Paciorkowski, Roberto Ciccone et al. · European Journal of Human Genetics · 2010 · 187 citations · Full text

Developmental Biology, Mendelian Disorder, Severe Speech Impairment +10

cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

Carolina Uggenti, Alice Lepelley, Marine Depp et al. · Nature Genetics · 2020 · 185 citations · Full text

Chromatin, Inborn Errors, Chromatin Remodeling +10

Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency

Romain Lévy, Satoshi Okada, Vivien Béziat et al. · Proceedings of the National Academy of Sciences · 2016 · 166 citations · Full text

XX males <i>SRY</i> negative: a confirmed cause of infertility: Figure 1

Annalisa Vetro, Roberto Ciccone, Roberto Giorda et al. · Journal of Medical Genetics · 2011 · 93 citations · Full text