Gene Discovery and Functional Genomics

The Agrawal Lab is rapidly looking to identify and determine the function of rare disease-causing genes to understanding of the genetic and molecular underpinnings.

gene discovery in rare diseases pipeline

Gene Discovery Pipeline

We have been involved in discovering the following genes: Ohtahara Syndrome, ROHHAD Syndrome, KIF26B, Gene Discovery Pipeline, amd HBS1L.

Recent Related Publications:

A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene
ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum
Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6
Reanalysis of Exome Data Identifies Novel SLC25A46 Variants Associated with Leigh Syndrome
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders
A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings

HBS1L

Agrawal Laboratory

Gene Discovery and Functional Genomics

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