Nicole C. Shaw

15 Hospital Avenue
Nedlands, WA 6009, Australia

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 32 publications

A precision medicine approach to interpret a GATA4 genetic variant in a paediatric patient with congenital heart disease.

A precision medicine approach to interpret a GATA4 genetic variant in a paediatric patient with congenital heart disease.

Journal: Human genomics
Published: October 02, 2025

Functional characterization of the MED12 p.Arg1138Trp variant in females: implications for neural development and disease mechanism.

Functional characterization of the MED12 p.Arg1138Trp variant in females: implications for neural development and disease mechanism.

Journal: Molecular medicine (Cambridge, Mass.)
Published: May 23, 2025

From classroom to collaboration: how pre-graduation interprofessional learning shapes health professional graduates' interactions in practice.

From classroom to collaboration: how pre-graduation interprofessional learning shapes health professional graduates' interactions in practice.

Journal: Journal of interprofessional care
Published: October 10, 2024

Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modelling.

Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modelling.

Journal: Molecular autism
Published: April 03, 2024

CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction.

CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction.

Journal: HGG advances
Published: September 01, 2023

Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease.

Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease.

Journal: Stem cell research & therapy
Published: February 23, 2023

The AdvICE course: leveraging clinician experience in interprofessional education to promote collaborative practice.

The AdvICE course: leveraging clinician experience in interprofessional education to promote collaborative practice.

Journal: Journal of interprofessional care
Published: January 05, 2023

Making a meaningful difference through collaboration: The experiences of healthcare staff redeployed to a contact tracing and monitoring team as part of the COVID-19 response.

Making a meaningful difference through collaboration: The experiences of healthcare staff redeployed to a contact tracing and monitoring team as part of the COVID-19 response.

Journal: Journal of interprofessional care
Published: July 21, 2022

Primary Nasal Epithelial Cells as a Surrogate Cell Culture Model for Type-II Alveolar Cells to Study ABCA-3 Deficiency.

Primary Nasal Epithelial Cells as a Surrogate Cell Culture Model for Type-II Alveolar Cells to Study ABCA-3 Deficiency.

Journal: Frontiers in medicine
Published: December 02, 2021

Functional validation of variants of unknown significance using CRISPR gene editing and transcriptomics: A Kleefstra syndrome case study.

Functional validation of variants of unknown significance using CRISPR gene editing and transcriptomics: A Kleefstra syndrome case study.

Journal: Gene
Published: October 20, 2021

Dysregulated Notch Signaling in the Airway Epithelium of Children with Wheeze.

Dysregulated Notch Signaling in the Airway Epithelium of Children with Wheeze.

Journal: Journal of personalized medicine
Published: September 06, 2021

CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiency.

CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiency.

Journal: Stem cell research & therapy
Published: August 06, 2021
Showing 1-12 of 32

Last Updated: 09/26/2026