Jenny Lord

机构：University of Southampton, University of Sheffield · ORCID：0000-0002-0539-9343

发表论文 117 篇 · 总被引 13380 次 · h-index 37

代表论文

• De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome (2024 · Nature · 被引 128)
• Initiation of continuous renal replacement therapy versus intermittent hemodialysis in critically ill patients with severe acute kidney injury: a secondary analysis of STARRT-AKI trial (2023 · Intensive Care Medicine · 被引 65)
• Multiancestry analysis of the HLA locus in Alzheimer’s and Parkinson’s diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes (2023 · Proceedings of the National Academy of Sciences · 被引 55)
• The impact of inversions across 33,924 families with rare disease from a national genome sequencing project (2024 · The American Journal of Human Genetics · 被引 31)
• Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach (2024 · Genome Medicine · 被引 26)
• The association of premorbid conditions with 6-month mortality in acutely admitted ICU patients over 80 years (2024 · Annals of Intensive Care · 被引 19)