Adam M Bournazos

9PUBLICATIONS
58CO-AUTHORS
Major global burdens of diseaseMedical molecular engineering of nucleic acids and proteinsCell and nuclear divisionNeonatologyEpigenetics (incl. genome methylation and epigenomics)
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Publications (9)

|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

|Oct 30, 2019
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.

Samantha J Bryen, Lisa J Ewans, Jason Pinner

|Apr 26, 2018
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Emily C Oates, Kristi J Jones, Sandra Donkervoort

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Frequent Collaborators

5 joint publications

Sandra T Cooper

3 joint publications

Samantha J Bryen

2 joint publications

Alan H Beggs

1 joint publications

Hamish S Scott