Jenny Taylor

17PUBLICATIONS
169CO-AUTHORS
Gene mappingMajor global burdens of diseaseMedical molecular engineering of nucleic acids and proteinsGene expression (incl. microarray and other genome-wide approaches)Haematological tumours
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Publications (17)

|Aug 05, 2026
Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project.

|Jun 01, 2026
The cost and cost-effectiveness of whole-exome and whole-genome sequencing: a systematic literature review.

|Mar 11, 2025
The Rare Therapies Launchpad: a pilot program for individualized medicines in the UK.

Daniel J O'Connor, Parker Moss, Matthew Wood

|Feb 26, 2025
Rare disease gene association discovery in the 100,000 Genomes Project.

Valentina Cipriani, Letizia Vestito, Emma F Magavern

|Feb 02, 2025
A Cryptic CBFB Deletion-Inversion Expands the Mutational Spectrum of Variants Associated With Cleidocranial Dysplasia.

Alistair T Pagnamenta, Mona Hashim, Joanna Kennedy

|Dec 18, 2024
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.

Gabriel N Aughey, Elisa Cali, Reza Maroofian

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Frequent Collaborators

6 joint publications

Alistair T Pagnamenta

3 joint publications

Henry Houlden

2 joint publications

Fatima Dhalla

2 joint publications

Elizabeth Ormondroyd