Pankaj B. Agrawal

The paper reports 37 new cases of RBM10 variants, identifies two phenotypic groups, and establishes a genotype-phenotype correlation based on functional studies.

The paper identifies unique signatures of highly constrained genes using gnomAD and explores their association with human disease and molecular pathways.

The paper detects and classifies copy number variants in exome data from 6,633 families, identifying causal CNVs in 173 families and improving classification standards.

This paper identifies loss-of-function variants in ZFHX3 as a cause of syndromic intellectual disability and describes its role in chromatin remodeling and DNA methylation.

The paper identifies SLC26A9 variants as modifier genes associated with rapidly progressing cystic fibrosis in patients with deltaF508 homozygous CFTR mutations.

This study investigates the effects of HBS1L deficiency on retinal dystrophy, showing proteomic changes and photoreceptor cell loss in both human and mouse models.

This study evaluates genome sequencing's diagnostic yield in a cohort of undiagnosed rare disease patients, finding it solves 29.3% of cases with specific variant types not detectable by exome sequencing.

The paper reports a cohort of 35 individuals with CUL3 variants causing a syndromic neurodevelopmental disorder, showing loss-of-function variants disrupt protein homeostasis by impairing proteasomal degradation of CUL3 substrates.

This paper investigates the role of SPEG in skeletal muscle biology using multi-omics approaches, revealing its interaction with the myospryn complex and its impact on mitochondrial function and calcium signaling.

This study shows WNT2B deficiency in mice increases colitis susceptibility and impairs human intestinal development, with distinct effects in small intestine and colon.

The paper evaluates unanticipated monogenic disease risks found in newborns through genomic screening, finding most risks are actionable and lead to medical interventions.

The paper functionally tests ASD missense variants in Drosophila, finding 38% caused functional alterations and identifying GLRA2 as a cause of neurodevelopmental phenotypes.

GEM, an AI-based tool, ranks causal genes highly for rare genetic diseases, improving diagnostic efficiency and reducing manual effort.

The paper identifies de novo PRKAR1B variants in six individuals with neurodevelopmental disorder, autism, apraxia, and reduced pain sensitivity.

The paper identifies RFX3, RFX4, and RFX7 mutations as causes of neurodevelopmental disorders including autism, ADHD, and intellectual disability, and links these genes to ASD risk genes through bioinformatic analysis.

This study characterizes SETD1A haploinsufficiency in humans and Drosophila, identifying a novel neurodevelopmental syndrome with cognitive and developmental symptoms.

The paper identifies de novo variants in EIF2AK1 and EIF2AK2 associated with neurodevelopmental disorders and leukoencephalopathy, showing similar pathogenic mechanisms to CACH/VWM.