Silvia Genovese

机构：Bambino Gesù Children's Hospital · ORCID：0000-0002-5514-5018

发表论文 52 篇 · 总被引 474 次 · h-index 12

代表论文

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study (2021 · American Journal of Medical Genetics Part A · 被引 20)
Congenital heart defects in the recurrent 2q13 deletion syndrome (2021 · European Journal of Medical Genetics · 被引 17)
Congenital heart defects in molecularly confirmed KBG syndrome patients (2021 · American Journal of Medical Genetics Part A · 被引 16)
PATZ1-Rearranged Tumors of the Central Nervous System: Characterization of a Pediatric Series of Seven Cases (2023 · Modern Pathology · 被引 12)
HuR modulation counteracts lipopolysaccharide response in murine macrophages (2023 · Disease Models & Mechanisms · 被引 12)
Deep Intronic LINE-1 Insertions in NF1: Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements (2023 · Biomolecules · 被引 11)