الرئيسية › دليل الباحثين › Antonio Novelli

Antonio Novelli

الانتماء : Bambino Gesù Children's Hospital

• 7منشورات (انتماء إيطالي)
• 589مجموع المنشورات
• 15435الاستشهادات
• 52مؤشر h

ORCIDOpenAlex

مجالات البحث

• Genomics and Rare Diseases
• Genomic variations and chromosomal abnormalities
• Genetics and Neurodevelopmental Disorders
• Prenatal Screening and Diagnostics
• Connective tissue disorders research

المنشورات (7)

• Deleterious variants in the autophagy-related gene RB1CC1/FIP200 impair immunity to SARS-CoV-2
  2025 · Nature Communications · استُشهد به 4 مرة
• Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
  2024 · Genetics in Medicine · استُشهد به 5 مرة
• Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions
  2024 · American Journal of Medical Genetics Part A · استُشهد به 3 مرة
• Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency
  2023 · Nature · استُشهد به 109 مرة
• Next generation sequencing panel target genes: possible diagnostic tool for ectodermal dysplasia related diseases
  2023 · Italian Journal of Dermatology and Venereology · استُشهد به 2 مرة
• Studying severe long COVID to understand post-infectious disorders beyond COVID-19
  2022 · Nature Medicine · استُشهد به 134 مرة
• Decoding the Human Genetic and Immunological Basis of COVID-19 mRNA Vaccine-Induced Myocarditis
  2022 · Journal of Clinical Immunology · استُشهد به 12 مرة

مجلات النشر

• Nature Communications × 1
• Genetics in Medicine × 1
• American Journal of Medical Genetics Part A × 1
• Nature × 1
• Italian Journal of Dermatology and Venereology × 1
• Nature Medicine × 1

المنشورات حسب السنة

• 20251
• 20242
• 20232
• 20222

التعاون العلمي

المؤسسات الشريكة : The San Raffaele Telethon Institute for Gene Therapy · Vita-Salute San Raffaele University · IRCCS Ospedale San Raffaele · Agency for Science, Technology and Research · Infectious Diseases Labs

بلدان المؤلفين المشاركين : إسبانيا · فرنسا · سنغافورة · الولايات المتحدة

المؤلفون المشاركون

• Alessandro Borghesi
• Giuseppe Novelli
• Giorgio Casari
• Alessandro Aiuti
• Laurent Abel
• Anastasiia V. Bondarenko
• Yenan T. Bryceson
• Maria Cristina Digilio
• Lisa F. P. Ng
• David S. Perlin
• Ondřej Slabý
• Saleh Al‐Muhsen

البيانات البيبليوغرافية مصدرها OpenAlex (قاعدة مفتوحة).