Jenny Lord

13PUBLICATIONS
143CO-AUTHORS
Medical biotechnology diagnostics (incl. biosensors)Gene expression (incl. microarray and other genome-wide approaches)NeurogeneticsMedical molecular engineering of nucleic acids and proteinsCardiology (incl. cardiovascular diseases)
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Publications (13)

|Sep 09, 2026
Proteomics identify disease-associated variants in patients with rare diseases undiagnosed after genome sequencing.

|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

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Frequent Collaborators

2 joint publications

Cathrine Ebbing

2 joint publications

Alexandra Robinson

2 joint publications

Rhiannon Mellis

2 joint publications

Christina Karapouliou