Sandra G. Piltz

North Terrace
Adelaide, SA, Australia

Last Updated: 09/26/2026

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Found 26 publications

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

Neural crest cell-derived DKK1 and NEDD4 modulate Wnt signalling in the second heart field to orchestrate outflow tract development.

Neural crest cell-derived DKK1 and NEDD4 modulate Wnt signalling in the second heart field to orchestrate outflow tract development.

Journal: Nature communications
Published: May 25, 2025

CRISPR-mediated megabase-scale transgene de-duplication to generate a functional single-copy full-length humanized DMD mouse model.

CRISPR-mediated megabase-scale transgene de-duplication to generate a functional single-copy full-length humanized DMD mouse model.

Journal: BMC biology
Published: May 03, 2024

Investigating the potential of X chromosome shredding for mouse genetic biocontrol.

Investigating the potential of X chromosome shredding for mouse genetic biocontrol.

Journal: Scientific reports
Published: January 08, 2024

Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment.

Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment.

Journal: Nature communications
Published: June 16, 2023

Telomere length in offspring is determined by mitochondrial-nuclear communication at fertilization.

Telomere length in offspring is determined by mitochondrial-nuclear communication at fertilization.

Journal: Nature communications
Published: June 15, 2023

Leveraging a natural murine meiotic drive to suppress invasive populations.

Leveraging a natural murine meiotic drive to suppress invasive populations.

Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: November 08, 2022

Generation of Gene Drive Mice for Invasive Pest Population Suppression.

Generation of Gene Drive Mice for Invasive Pest Population Suppression.

Journal: Methods in molecular biology (Clifton, N.J.)
Published: June 13, 2022

Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema.

Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema.

Journal: Science translational medicine
Published: March 02, 2022

Optimized nickase- and nuclease-based prime editing in human and mouse cells.

Optimized nickase- and nuclease-based prime editing in human and mouse cells.

Journal: Nucleic acids research
Published: July 21, 2021

Response to correspondence on "Reproducibility of CRISPR-Cas9 methods for generation of conditional mouse alleles: a multi-center evaluation".

Response to correspondence on "Reproducibility of CRISPR-Cas9 methods for generation of conditional mouse alleles: a multi-center evaluation".

Journal: Genome biology
Published: April 08, 2021

The Nestin neural enhancer is essential for normal levels of endogenous Nestin in neuroprogenitors but is not required for embryo development.

The Nestin neural enhancer is essential for normal levels of endogenous Nestin in neuroprogenitors but is not required for embryo development.

Journal: PloS one
Published: March 31, 2021
Showing 1-12 of 26

Last Updated: 09/26/2026