Kristen J. Nowak

Perth, WA, Australia

Last Updated: 09/26/2026

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Found 61 publications

Feasibility and outcomes of the DNA Screen nationwide adult genomic screening pilot.

Feasibility and outcomes of the DNA Screen nationwide adult genomic screening pilot.

Journal: Nature health

Published: August 26, 2026

Co-Design of Strategies to Support the Implementation of a Paediatric Risk-Reduction Pathway for Familial Hypercholesterolaemia.

Co-Design of Strategies to Support the Implementation of a Paediatric Risk-Reduction Pathway for Familial Hypercholesterolaemia.

Journal: Journal of paediatrics and child health

Published: November 25, 2025

Enhancing the detection of familial hypercholesterolaemia in general practice: A model for supporting genetic cascade testing in the community.

Enhancing the detection of familial hypercholesterolaemia in general practice: A model for supporting genetic cascade testing in the community.

Journal: European journal of human genetics : EJHG

Published: July 03, 2025

Genomic Newborn Screening: Verdict From an Australian Citizens' Jury.

Genomic Newborn Screening: Verdict From an Australian Citizens' Jury.

Journal: The Medical journal of Australia

Published: May 23, 2025

Health professionals contacting patients' relatives directly about genetic risk (with patient consent): current clinical practice and perspectives.

Health professionals contacting patients' relatives directly about genetic risk (with patient consent): current clinical practice and perspectives.

Journal: European journal of human genetics : EJHG

Published: July 05, 2024

Patients' perspectives regarding health professionals contacting their relatives about genetic risk directly (with patient consent).

Patients' perspectives regarding health professionals contacting their relatives about genetic risk directly (with patient consent).

Journal: European journal of human genetics : EJHG

Published: July 05, 2024

A contemporary analysis of the Australian clinical and genetic landscape of spinal muscular atrophy: a registry based study.

A contemporary analysis of the Australian clinical and genetic landscape of spinal muscular atrophy: a registry based study.

Journal: The Lancet regional health. Western Pacific

Published: April 07, 2024

"Uninsurable because of a genetic test": a qualitative study of consumer views about the use of genetic test results in Australian life insurance.

"Uninsurable because of a genetic test": a qualitative study of consumer views about the use of genetic test results in Australian life insurance.

Journal: European journal of human genetics : EJHG

Published: October 05, 2023

Combined population genomic screening for three high-risk conditions in Australia: a modelling study.

Combined population genomic screening for three high-risk conditions in Australia: a modelling study.

Journal: EClinicalMedicine

Published: August 21, 2023

Privacy Implications of Contacting the At-Risk Relatives of Patients with Medically Actionable Genetic Predisposition, with Patient Consent: A Hypothetical Australian Case Study.

Privacy Implications of Contacting the At-Risk Relatives of Patients with Medically Actionable Genetic Predisposition, with Patient Consent: A Hypothetical Australian Case Study.

Journal: Biotech (Basel (Switzerland))

Published: January 27, 2023

Direct notification by health professionals of relatives at-risk of genetic conditions (with patient consent): views of the Australian public.

Direct notification by health professionals of relatives at-risk of genetic conditions (with patient consent): views of the Australian public.

Journal: European journal of human genetics : EJHG

Published: January 17, 2023

Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) variant in the ACTA1 gene.

Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) variant in the ACTA1 gene.

Journal: Stem cell research

Published: April 02, 2022

Showing 1-12 of 61

Last Updated: 09/26/2026