Andrew Paul Fennell

7PUBLICATIONS
66CO-AUTHORS
Gene and molecular therapyEpigenetics (incl. genome methylation and epigenomics)NeurogeneticsNeurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)
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Publications (7)

|Aug 27, 2026
Iterative genetic testing identifies SAMHD1 deficiency caused by a homozygous balanced translocation.

|May 11, 2026
Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi-Omic Genomics.

|Mar 30, 2026
Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Adam Jackson, Alexander J M Blakes, Bader Alhaddad

|Nov 11, 2022
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.

Andrew Paul Fennell, Anne Elizabeth Baxter, Samuel Frank Berkovic

|Jul 12, 2019
The changing face of clinical genetics service delivery in the era of genomics: a framework for monitoring service delivery and data from a comprehensive metropolitan general genetics service.

Andrew Paul Fennell, Matthew Frank Hunter, Gregory Philip Corboy

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Frequent Collaborators

2 joint publications

Sebastian Lunke

2 joint publications

Zornitza Stark

2 joint publications

Matthew Frank Hunter

1 joint publications

Ari E Horton