Ambrin Fatima

The paper identifies rare variants in CSMD2 associated with neurodevelopmental disorders, showing both recessive and dominant inheritance patterns and functional impairments.

This study uses prime editing to correct the HBB c.27dupG mutation in patient-derived iPSCs and restores β-globin expression in erythroid cells.

The paper identifies DDIAS as a mitosis-specific DNA damage response protein that binds single-stranded DNA and is part of the TOPBP1-CIP2A complex, highlighting its role in protecting chromosome integrity during mitosis.

This study shows Dmrta2 represses Pax6 in cortical progenitors and identifies a DNA-binding mutation linked to microcephaly in humans.

This study uses CRISPR-Cas9 to investigate BCL11A zinc finger domains' role in gamma-globin regulation and hemoglobinopathy treatment, finding Znf4 deletion increases HbF levels.

This study identifies a mutation in RRP7A linked to primary microcephaly, showing its role in neurogenesis, ribosomal biogenesis, and ciliary resorption in neural stem cells.