Alistair T Pagnamenta

34PUBLICATIONS
209CO-AUTHORS
Gene mappingNeurogeneticsGene expression (incl. microarray and other genome-wide approaches)Haematological tumoursGenome structure and regulation
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Publications (34)

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

|May 18, 2026
Uncovering apparent incomplete penetrance of TSC1/TSC2 variants: Insights from multiple population cohorts and implications for newborn screening.

|May 12, 2026
Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort.

|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

|Dec 18, 2025
Haplotype studies and the use of a nearby tagging variant confirm a founder origin for an intragenic CYP11B1 inversion.

Alistair T Pagnamenta, Timothy S Hall, Caroline F Wright

|Apr 14, 2025
A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and SRRM2 Haploinsufficiency.

Alistair T Pagnamenta, Jing Yu, Tracey A Willis

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Frequent Collaborators

7 joint publications

Henry Houlden

6 joint publications

Reza Maroofian

6 joint publications

Jenny C Taylor

4 joint publications

Stephanie Efthymiou