Dr Svenja Pachernegg
Honorary (Fellow)
Department of Paediatrics
20 Scholarly works
0 Projects
HIGHLIGHTS
2026
Journal article
The emergence of multiple testicular cell lineages in human stem cell-derived testis-like organoids
DOI: 10.1242/dev.2047722024
Journal article
COUP-TFII regulates early bipotential gonad signaling and commitment to ovarian progenitors
DOI: 10.1186/s13578-023-01182-52024
Journal article
Variant-specific in vitro neuronal network phenotypes and drug sensitivity in SCN2A developmental and epileptic encephalopathy
DOI: 10.1111/jnc.161032024
Journal article
Generation of heterozygous (MCRIi031-A-1) and homozygous (MCRIi031-A-2) SOX9 knockout human iPSC lines
DOI: 10.1016/j.scr.2024.1034842024
Journal article
Generation of a homozygous (MCRIi031-A-3) WT1 knockout human iPSC line
DOI: 10.1016/j.scr.2024.1034942024
Journal article
Generation of heterozygous (MCRIi030-A-1) and homozygous (MCRIi030-A-2) NR2F2/COUP-TFII knockout human iPSC lines
DOI: 10.1016/j.scr.2024.1033742024
Journal article
Distinctive In Vitro Phenotypes in iPSC-Derived Neurons From Patients With Gain- and Loss-of-Function SCN2A Developmental and Epileptic Encephalopathy
DOI: 10.1523/JNEUROSCI.0692-23.2023
RECENT SCHOLARLY WORKS
2023
Journal article
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects
DOI: 10.1038/s41467-023-39040-02023
Journal article
Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects (Nature Communications, (2023), 14, 1, (3403), 10.1038/s41467-023-39040-0)
DOI: 10.1038/s41467-023-39372-x2023
Journal article
Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency
DOI: 10.1007/s00439-023-02563-z