Jan E. Liebelt

North Adelaide, SA, Australia

Last Updated: 09/26/2026

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Found 35 publications

Follow-up imaging after hospital discharge for acute intracerebral hemorrhage in European academic hospitals: a decision-making analysis.

Follow-up imaging after hospital discharge for acute intracerebral hemorrhage in European academic hospitals: a decision-making analysis.

Journal: Neuroradiology

Published: December 13, 2025

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Journal: American journal of human genetics

Published: October 19, 2025

Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses.

Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses.

Journal: Human genomics

Published: September 10, 2025

Nationwide, Couple-Based Genetic Carrier Screening.

Nationwide, Couple-Based Genetic Carrier Screening.

Journal: The New England journal of medicine

Published: November 20, 2024

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.

Journal: medRxiv : the preprint server for health sciences

Published: April 22, 2024

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

Journal: Nature

Published: April 07, 2024

Extending the new era of genomic testing into pregnancy management: A proposed model for Australian prenatal services.

Extending the new era of genomic testing into pregnancy management: A proposed model for Australian prenatal services.

Journal: The Australian & New Zealand journal of obstetrics & gynaecology

Published: November 12, 2023

Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.

Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.

Journal: Nature medicine

Published: July 10, 2023

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Journal: American journal of human genetics

Published: November 23, 2022

Response to: No strong evidence to date for an association between RIMS1 and retinal dystrophy: Mahrood O, et al.

Response to: No strong evidence to date for an association between RIMS1 and retinal dystrophy: Mahrood O, et al.

Journal: Documenta ophthalmologica. Advances in ophthalmology

Published: October 04, 2022

The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.

The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.

Journal: Journal of personalized medicine

Published: September 16, 2022

A clinical and electrophysiological case study of a child with a novel frame shift mutation in the CACNA1F and missense variation of RIMS1 genes.

A clinical and electrophysiological case study of a child with a novel frame shift mutation in the CACNA1F and missense variation of RIMS1 genes.

Journal: Documenta ophthalmologica. Advances in ophthalmology

Published: January 16, 2022

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Last Updated: 09/26/2026