Atanu Kumar Dutta

The paper estimates the global carrier frequency and burden of autosomal recessive inborn errors of metabolism using genomic data, finding high carrier frequencies in certain populations and significant newborn prevalence.

The paper identifies rare and novel indel mutations in β Thalassemia patients in eastern India using molecular methods and highlights the limitations of HPLC screening.

Re-analyzing negative exome sequencing data with deep phenotyping identifies pathogenic variants in two patients with suspected Mendelian diseases.

This study identifies 13 genome-wide significant loci associated with SARS-CoV-2 infection or severe COVID-19 through a global meta-analysis of 49,562 patients.