Jenny Lord
12PUBLICATIONS
127CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (12)
Sort by Publication Date:
|Apr 03, 2026
Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library.Jenny Lord, Alistair T Pagnamenta, Letizia Vestito
|Mar 30, 2026
Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.Adam Jackson, Alexander J M Blakes, Bader Alhaddad
|Jul 23, 2025
M6A-dependent RNA condensation underlies FUS autoregulation and can be harnessed for ALS therapy development.Wan-Ping Huang, Vedanth Kumar, Karen Yap
|Nov 26, 2024
Molecular diagnoses and candidate gene identification in the congenital heart disease cohorts of the 100,000 genomes project.Verity Hartill, Mitra Kabir, Sunayna Best
|Jul 11, 2024
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.Yuyang Chen, Ruebena Dawes, Hyung Chul Kim
|Jan 03, 2024
Predicting the impact of rare variants on RNA splicing in CAGI6.Jenny Lord, Carolina Jaramillo Oquendo, Htoo A Wai
Pageof 2
Frequent Collaborators
2 joint publications
Cathrine Ebbing
2 joint publications
Alexandra Robinson
2 joint publications
Rhiannon Mellis
2 joint publications
Christina Karapouliou
2 joint publications
Mary Beth Dinulos
2 joint publications
Dionysios Grigoriadis
2 joint publications
Matthew E Hurles
2 joint publications
Ege Sackey
2 joint publications
Silvia Martin-Almedina
2 joint publications
Kazim Ogmen
