Sandra Piltz

The paper identifies DKK1 from neural crest cells as a regulator of Wnt signaling in the second heart field, crucial for cardiac outflow tract development and linked to congenital heart disease.

The paper provides a protocol for generating and characterizing mouse models of Duchenne Muscular Dystrophy using CRISPR-Cas9 and describes methods for phenotypic and molecular analysis.

The paper generates a single-copy humanized DMD mouse model by deleting a duplicated transgene to improve the accuracy of CRISPR therapy testing.

This paper develops a conditional Pcdh19 knockout mouse model with GFP reporter to study PCDH19's role in brain development and disease.

This study investigates X chromosome shredding in mice to control population growth but finds it causes spermatogenic block rather than male-biased offspring.

This paper proposes a gene drive strategy called tCRISPR to suppress invasive mouse populations by leveraging the t haplotype's biased transmission and inactivating mutations in a female fertility gene.

This study demonstrates that antisense oligonucleotide therapy reduces seizures and improves survival in a KCNT1 mouse model of encephalopathy.

The paper investigates the role of the Nestin neural enhancer in regulating Nes expression during embryonic development and shows it is not essential for embryo viability.

This paper develops PEA1 plasmids and PE-nuclease systems for efficient prime editing in human and mouse cells, achieving high editing efficiency in some cell lines and fetal mice.

This study investigates CRISPR/Cas9-based gene drives in mice, finding that robust Cas9 expression during meiosis is critical for efficient gene drive generation.

The paper re-evaluates the efficiency of a CRISPR-Cas9 method for generating conditional knockout alleles in mice, finding very low success rates and high rates of undesired alleles.

The paper shows that PCDH19 mutations in females cause abnormal cell sorting in the developing cortex, leading to epilepsy, while males are unaffected due to normal sorting.