Svenja Pachernegg
Melbourne, VIC, Australia
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 19 publications
The role of mitochondrial dysfunction and genetics in female infertility and premature ovarian insufficiency.
Journal: Human reproduction update
Published: October 15, 2025
The emergence of multiple testicular cell lineages in human stem cell-derived testis-like organoids.
The emergence of multiple testicular cell lineages in human stem cell-derived testis-like organoids.
Journal: Development (Cambridge, England)
Published: March 07, 2025
Generation of a homozygous (MCRIi031-A-3) WT1 knockout human iPSC line.
Journal: Stem cell research
Published: May 06, 2024
Variant-specific in vitro neuronal network phenotypes and drug sensitivity in SCN2A developmental and epileptic encephalopathy.
Journal: Journal of neurochemistry
Published: September 02, 2023
COUP-TFII regulates early bipotential gonad signaling and commitment to ovarian progenitors.
Journal: Cell & bioscience
Published: August 20, 2023
Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Journal: Nature communications
Published: June 15, 2023
Distinctive In Vitro Phenotypes in iPSC-Derived Neurons From Patients With Gain- and Loss-of-Function SCN2A Developmental and Epileptic Encephalopathy.
Journal: The Journal of neuroscience : the official journal of the Society for Neuroscience
Published: April 17, 2023
Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency.
Journal: Human genetics
Published: January 09, 2023
Antisense oligonucleotide therapy reduces seizures and extends life span in an SCN2A gain-of-function epilepsy model.
Journal: The Journal of clinical investigation
Published: June 07, 2021
Last Updated: 09/26/2026