Cheryl Shoubridge

10PUBLICATIONS
16CO-AUTHORS
Pacific Peoples nursingEpigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)Developmental genetics (incl. sex determination)Neurogenetics
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Publications (10)

|Jul 02, 2026
A Health Navigator intervention to identify and respond to the health-related social needs of an Australian population living with cancer: a mixed-methods feasibility study.

|Mar 29, 2022
IQSEC2-related encephalopathy in males due to missense variants in the pleckstrin homology domain.

Cheryl Shoubridge, Tracy Dudding-Byth, Laurent Pasquier

|Apr 13, 2021
Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability.

Michael J Field, Raman Kumar, Anna Hackett

|Feb 11, 2021
Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies.

Elizabeth Emma Palmer, Rani Sachdev, Rebecca Macintosh

|May 09, 2020
Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance.

Monica H N Thai, Alison Gardner, Laura Redpath

|Aug 24, 2019
Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females.

Matilda R Jackson, Karagh E Loring, Claire C Homan

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Frequent Collaborators

4 joint publications

Jozef Gecz

1 joint publications

Mark A Corbett

1 joint publications

Tracy Dudding-Byth

1 joint publications

Tessa Mattiske