Mohnish Suri

This study identifies biallelic TRMT1 variants causing a syndromic neurodevelopmental disorder through tRNA modification defects in humans and zebrafish.

The paper identifies recurrent mutations in the RNU2-2P gene, which encodes U2 snRNA, as a cause of a severe neurodevelopmental disorder with prominent epilepsy.

The paper identifies novel TUBA1A variants and shows reduced penetrance of malformations of cortical development in tubulinopathies.

This study defines the clinical spectrum and genotype-phenotype correlations of BCL11A-IDD by analyzing 75 patients with molecular and clinical data.

The paper evaluates clinical outcomes after genetic diagnosis in children with severe developmental disorders, finding that most families received condition-specific information and support.

The paper presents a method to assess recurrence risk of de novo mutations in families using deep-sequencing and haplotyping, finding that 59% of DNMs had reduced risk below 0.1%.