Luísa Coutinho Santos

机构：Administração Regional de Saúde de Lisboa e Vale do Tejo, Centro Hospitalar de Lisboa Ocidental · ORCID：0000-0002-6181-4505

发表论文 20 篇 · 总被引 653 次 · h-index 9

代表论文

• Extreme hyperopia is the result of null mutations in MFRP , which encodes a Frizzled-related protein (2005 · Proceedings of the National Academy of Sciences · 被引 193)
• AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data (2021 · Nature Communications · 被引 170)
• The photoreceptor cell-specific nuclear receptor gene ( PNR ) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition (2000 · Human Genetics · 被引 87)
• The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis (2023 · PNAS Nexus · 被引 50)
• New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV (2020 · Human Mutation · 被引 41)
• Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice (2019 · PLoS Genetics · 被引 27)