James A Poulter

24PUBLICATIONS
77CO-AUTHORS
Neurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Vision scienceDental materials and equipmentGene mapping
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Publications (24)

|Jul 08, 2026
Whole-exome sequencing reveals novel and previously reported variants in genes linked to white matter pathology in neurodevelopmental disorders.

|Jun 26, 2026
Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.

|Dec 18, 2025
Analysis of familial exudative vitreoretinopathy (FEVR) cases in the UK 100 000 genomes project increases diagnostic rate and implicates heterozygous CTNND1 mutations in FEVR.

Dong Sun, Robert H Henderson, Emma Clement

|Oct 23, 2025
RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa.

Leon Chang, James A Poulter, Andrew R Webster

|Jul 31, 2025
Genetic Screening of a Nonsyndromic Amelogenesis Imperfecta Patient Cohort Using a Custom smMIP Reagent for Selective Enrichment of Target Loci.

Ummey Hany, Christopher M Watson, Lu Liu

|Jul 29, 2025
Exome sequencing reveals broad genetic heterogeneity for neuromuscular disorders in consanguineous Pakistani Families.

Tooba Aleem, Maliha Rashid, Naeem Ahmad

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Frequent Collaborators

9 joint publications

Christopher M Watson

4 joint publications

Ummey Hany

4 joint publications

Chris F Inglehearn

4 joint publications

Claire E L Smith