| Iron and ferritin modulate MHC class I expression and NK cell recognition R Sottile, G Federico, C Garofalo, R Tallerico, MC Faniello, B Quaresima, ... Frontiers in Immunology 10, 224, 2019 | 52 | 2019 |
| Adducted thumb and peripheral polyneuropathy: diagnostic supports in suspecting white–sutton syndrome: case report and review of the literature G Trimarchi, SG Caraffi, FC Radio, S Barresi, G Contrò, S Pizzi, I Maini, ... Genes 12 (7), 950, 2021 | 10 | 2021 |
| Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage M Lecca, D Pehlivan, DH Suñer, K Weiss, T Coste, M Zweier, Y Oktay, ... The American Journal of Human Genetics 110 (4), 681-690, 2023 | 7 | 2023 |
| Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature F Peluso, SG Caraffi, G Contrò, L Valeri, M Napoli, G Carboni, A Seth, ... Journal of medical genetics 60 (12), 1224-1234, 2023 | 5 | 2023 |
| Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding I Maini, E Errichiello, SG Caraffi, S Rosato, V Bizzarri, M Pollazzon, ... neurogenetics 22, 19-25, 2021 | 5 | 2021 |
| Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic … G Contrò, A Micalizzi, S Giangiobbe, SG Caraffi, R Zuntini, S Rosato, ... Genes 12 (8), 1208, 2021 | 2 | 2021 |
| A novel ABCC6 variant causative of pseudoxanthoma elasticum G Contrò, R Tallerico, V Dattilo, F Fabiani, MV Enzo, U Hladnik, S Dastoli, ... Human Genome Variation 6 (1), 30, 2019 | 2 | 2019 |
| Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the … CA Cesaroni, G Contrò, C Spagnoli, F Cancelliere, SG Caraffi, A Leon, ... Neurogenetics, 1-5, 2024 | 1 | 2024 |
| Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant–A Case Report and a … M Baga, I Ivanovski, G Contrò, SG Caraffi, C Spagnoli, CA Cesaroni, ... Molecular Syndromology 15 (1), 63-70, 2024 | | 2024 |
| The ultrarare ASXL-related disorders: two novel cases of Sashi-Pena and Bohring-Opitz syndrome G Contro, S Caraffi, FC Radio, D Frattini, C Fusco, M Tartaglia, L Garavelli EUROPEAN JOURNAL OF HUMAN GENETICS 32, 469-469, 2024 | | 2024 |
| A case of posterior lissencephaly due to a variation in CEP85L gene: case report and refining of the phenotypic spectrum G Contro, A Micalizzi, S Giangiobbe, S Rosato, M Pollazzon, SG Caraffi, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 283-284, 2022 | | 2022 |
| Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White–Sutton Syndrome: Case Report and Review of the Literature. Genes 2021, 12, 950 G Trimarchi, SG Caraffi, FC Radio, S Barresi, G Contrò, S Pizzi, I Maini, ... s Note: MDPI stays neutral with regard to jurisdictional claims in published …, 2021 | | 2021 |
| Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum. Genes 2021 … G Contrò, A Micalizzi, S Giangiobbe, SG Caraffi, R Zuntini, S Rosato, ... s Note: MDPI stays neutral with regard to jurisdictional claims in published …, 2021 | | 2021 |
| Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: the relevance of neuroimaging findings I Maini, E Errichiello, S Caraffi, S Rosato, V Bizzarri, M Pollazzon, ... EUROPEAN JOURNAL OF HUMAN GENETICS 28, 906-906, 2020 | | 2020 |
| Whole exome sequencing reveals a homozygous mutation in</i> NBAS<//i> in a critically sick newborn with a complex immunologic phenotype GMA Forzano, G Mancano, A La Barbera, A Pagliazzi, F Peluso, ... European Journal Of Human Genetics 27, 1532-1533, 2019 | | 2019 |
| Whole exome sequencing (WES) in suspected mitochodrial disease:</i> PUS1<//i> gene and MLASA spectrum F Peluso, B Siri, V Palazzo, A Provenzano, R Artuso, A Pagliazzi, ... European Journal Of Human Genetics 27, 1355-1355, 2019 | | 2019 |
| Novel</i> de novo<//i> mutations in</i> PHF6<//i>: two unrelated females with Borjeson-Forssman-Lehmann syndrome A Pagliazzi, R Artuso, G Traficante, L Giunti, A Provenzano, G Forzano, ... European Journal Of Human Genetics 27, 1401-1401, 2019 | | 2019 |
| Serum leptin, adiponectin and insulin-like growth factor I during infancy were associated with markers of metabolic syndrome at six years of age A Pagliazzi, R Artuso, G Traficante, L Giunti, E Bosi, A Provenzano, ... HORMONE RESEARCH IN PAEDIATRICS 91, 224-224, 2019 | | 2019 |
| A novel case of paternal isodisomy for chromosome 7 associated with overgrowth A Pagliazzi, R Artuso, S Guarducci, M Pantaleo, B Lucherini, I Sani, ... Hormone Research In Paediatrics 91, 445-445, 2019 | | 2019 |
| A novel ABCC6 variant causative of pseudoxanthoma elasticum C Gianluca, T Rossana, D Vincenzo, F Fernanda, EM Vittoria, H Uros, ... Human Genome Variation 6 (1), 2019 | | 2019 |
