Jenny Taylor

17PUBLICATIONS
169CO-AUTHORS
Gene mappingMajor global burdens of diseaseGene expression (incl. microarray and other genome-wide approaches)Haematological tumoursGenome structure and regulation
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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.

|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

|Nov 19, 2024
Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency.

Elena Blanco, Carme Camps, Sameer Bahal

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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