Alain Verloès

机构：Université Paris Cité, Assistance Publique – Hôpitaux de Paris, Hôpital Robert-Debré · ORCID：0000-0003-4819-0264

发表论文 630 篇 · 总被引 25136 次 · h-index 85

代表论文

• Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations (2024 · European Journal of Human Genetics · 被引 71)
• Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses (2025 · Nature Medicine · 被引 55)
• Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption (2025 · Nature Genetics · 被引 47)
• Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee (2024 · European Journal of Medical Genetics · 被引 21)
• Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors (2024 · Nature Communications · 被引 10)
• Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon (2024 · Nature Genetics · 被引 9)