Kalyan Goswami

A Dual-Function Guanidinium Scaffold that Couples Copper Sequestration with Redox Protection in Wilson disease

This paper introduces Gua-Cu-3, a dual-function molecule that sequesters copper and reduces oxidative stress in Wilson disease models, outperforming existing treatments.

Structural insights into the inhibition of sickle hemoglobin polymerization by asymmetric hemoglobin tetramer HbFS (α2γβS)

This study investigates how elevated fetal hemoglobin (HbF) inhibits sickle hemoglobin (HbS) polymerization using mass spectrometry techniques, revealing conformational changes in HbFS that reduce polymerization.

Estimation of the global burden of autosomal recessive rare inborn errors of metabolism

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.

Exome re-analysis driven by deep phenotyping increases diagnostic yield

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