Sarju G. Mehta

De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms

The paper identifies de novo LDB1 variants linked to distinct neurodevelopmental phenotypes based on variant location and pathomechanisms, confirmed through in vitro and in vivo studies.

Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library

The paper uses blood-based RNA-Seq on 5,412 individuals with rare diseases to identify new candidate diagnoses and shows its utility in prioritizing genetic variants.

Quantifying the contribution of recessive coding variation to developmental disorders

The paper estimates the contribution of recessive coding variants to developmental disorders using exome data from 7,448 families, finding low prevalence in European ancestry but higher in Pakistani ancestry.

Detection of structural mosaicism from targeted and whole-genome sequencing data

The paper introduces MrMosaic, a method to detect structural mosaicism using sequencing data, finding that blood-only testing misses over 50% of mosaic rearrangements.