David J Bunyan

6PUBLICATIONS
29CO-AUTHORS
Genetic immunologyGene expression (incl. microarray and other genome-wide approaches)Medical devicesMedical infection agents (incl. prions)Cardiology (incl. cardiovascular diseases)
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Publications (6)

|May 08, 2026
Variant Curation of the Largest Compendium of <i>FOXL2</i> Coding and Noncoding Sequence and Structural Variants in BPES.

|Mar 11, 2026
HiFi long-read RNA sequencing enhances clinical diagnostics in rare disorders.

Carolina Jaramillo Oquendo, Federico Ferraro, Htoo A Wai

|Oct 10, 2024
<i>FILIP1</i>-associated neuromuscular disorder and phenotypic blending due to paternal UPD6.

Laura M Watts, David J Bunyan, Edoardo Giacopuzzi

|Jan 13, 2021
AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination.

Katharine Edgerley, Angela Barnicoat, Amaka C Offiah

|Aug 23, 2020
Screening of a large Rubinstein-Taybi cohort identified many novel variants and emphasizes the importance of the CREBBP histone acetyltransferase domain.

Esther Cross, Philippa J Duncan-Flavell, Rachel J Howarth

|Mar 07, 2017
Primary Clear Cell Microcystic Adenoma of the Sinonasal Cavity: Pathological or Fortuitous Association?

Rosalin Cooper, Hannah Markham, Jeffery Theaker

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Frequent Collaborators

1 joint publications

Rosalin Cooper

1 joint publications

Katharine Edgerley

1 joint publications

Laura M Watts

1 joint publications

Edoardo Giacopuzzi