Jenny Lord
University of Southampton(GB)University of Sheffield(GB)
Publications by Year
Research Areas
Genomics and Rare Diseases, RNA modifications and cancer, RNA Research and Splicing, Genomic variations and chromosomal abnormalities, RNA and protein synthesis mechanisms
Most-Cited Works
- → Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study(2019)698 cited
- → Evidence for 28 genetic disorders discovered by combining healthcare and research data(2020)646 cited
- → Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease(2013)472 cited
- → Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders(2018)335 cited
- → Recommendations for clinical interpretation of variants found in non-coding regions of the genome(2022)241 cited
- → Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance(2020)181 cited
- → Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families(2015)162 cited
- → The epigenetic landscape of Alzheimer's disease(2014)130 cited
- → Missense variant in TREML2 protects against Alzheimer's disease(2013)125 cited
- → De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome(2024)100 cited