Neonatal Bartter syndrome diagnosed by rapid genomics following low risk pre‐conception carrier screening

Ultrarapid Nanopore Genome Sequencing in a Critical Care Setting

(2022) John E. Gorzynski et al.   NEW ENGLAND JOURNAL OF MEDICINE

Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders

(2021) Martin Konrad et al.   KIDNEY INTERNATIONAL

Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome

(2021) Mallory J. Owen et al.   NEW ENGLAND JOURNAL OF MEDICINE

Rapid genomic testing for critically ill children: time to become standard of care?

(2021) Zornitza Stark et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Maternity healthcare professionals’ views and experiences of fetal genomic uncertainty: a review

(2020) Lisa Hui et al.   PRENATAL DIAGNOSIS

Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)

(2020) Edwin P. Kirk et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Parental experiences of ultrarapid genomic testing for their critically unwell infants and children

(2020) Gemma R. Brett et al.   GENETICS IN MEDICINE

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

(2020) et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Genetic counseling in pediatric acute care: Reflections on ultra-rapid genomic diagnoses in neonates

(2019) Samantha Ayres et al.   Journal of Genetic Counseling

Attitudes of Australian health professionals towards rapid genomic testing in neonatal and paediatric intensive care

(2019) Zornitza Stark et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Scoping the Scene: What Do Nurses, Midwives, and Allied Health Professionals Need and Want to Know About Genomics?

(2019) Mona Saleh et al.   Frontiers in Genetics