N. Siddiqui

Divergent trajectories to structural diversity impact patient survival in high grade serous ovarian cancer

The paper identifies two divergent structural variation trajectories in HGSOC that impact patient survival and reveals novel candidate driver genes and mtDNA mutations associated with prognosis.

Genome-wide Disease Screening in Early Human Embryos with Primary Template-Directed Amplification

This paper introduces a method to screen early human embryos for genetic variants using primary template-directed amplification, identifying aneuploidy, mitochondrial variants, and disease-causing mutations, and computing polygenic risk scores.

Force generation of KIF1C is impaired by pathogenic mutations

This study investigates the force generation of KIF1C and shows that pathogenic mutations impair its ability to generate force, leading to neuronal dysfunction.

Structural variants at the BRCA1/2 loci are a common source of homologous repair deficiency in high grade serous ovarian carcinoma

This study identifies large structural variants as a significant source of homologous repair deficiency in high-grade serous ovarian carcinoma, beyond known SNVs and indels at BRCA1/2.

Activation of cytoplasmic dynein through microtubule crossbridging

This study shows that cytoplasmic dynein can crossbridge microtubules, enabling it to slide and polarity-sort microtubule bundles without requiring dynactin or cargo adapters.

Elevated soluble Galectin-3 as a marker of chemotherapy efficacy in Breast cancer patients: a prospective study

This study shows that elevated soluble Galectin-3 in plasma or stromal tissue after chemotherapy correlates with better prognosis and longer disease-free survival in breast cancer patients.

Activation of intracellular transport by relieving KIF1C autoinhibition

This study identifies how PTPN21 relieves KIF1C autoinhibition, enabling cargo-specific transport and bidirectional movement.