Adam M Bournazos

11PUBLICATIONS
74CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Infant and child healthMajor global burdens of diseaseMedical molecular engineering of nucleic acids and proteinsCell and nuclear division
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Publications (11)

|Sep 25, 2026
SCN5A U12-Type Minor Intron Variant Causes Cryptic Splicing and Cardiac Arrhythmia Disease.

|Sep 17, 2026
Expanding the genotypic and phenotypic spectrum of PGAP1 deficiency: clinical and functional insights from 15 patients.

|Feb 25, 2023
Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma.

Nicole J Van Bergen, Karen Gunanayagam, Adam M Bournazos

|Feb 06, 2023
SpliceVault predicts the precise nature of variant-associated mis-splicing.

Ruebena Dawes, Adam M Bournazos, Samantha J Bryen

|May 12, 2021
WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase.

Leigh B Waddell, Samantha J Bryen, Beryl B Cummings

|Sep 09, 2020
Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate.

Lauren S Akesson, Adam Bournazos, Andrew Fennell

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Frequent Collaborators

7 joint publications

Sandra T Cooper

3 joint publications

Samantha J Bryen

2 joint publications

Alan H Beggs

1 joint publications

Richard D Bagnall