Maninder Kaur

This paper develops a specific pipeline to detect balanced reciprocal translocations in genomic data and applies it across multiple cohorts to assess their prevalence and diagnostic impact.

The paper identifies SMC3 loss-of-function variants associated with variable growth and developmental features, including some unexpected phenotypes like bone marrow failure and leukemia.

The paper demonstrates that RNA-seq of B lymphoblastoid cell lines can effectively diagnose neurodevelopmental disorders, including Cornelia de Lange syndrome, with high sensitivity.