Meenal C. Agarwal

1260/B, JM Road
Pune, MH 411004, India

Last Updated: 09/26/2026

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Found 17 publications

Position Statement of the Indian Academy of Medical Genetics on Cytogenetic and Molecular Cytogenetic Testing.

Position Statement of the Indian Academy of Medical Genetics on Cytogenetic and Molecular Cytogenetic Testing.

Journal: Indian journal of pediatrics

Published: February 22, 2026

Chromosomal Microarray: Still Relevant in NGS Era.

Chromosomal Microarray: Still Relevant in NGS Era.

Journal: Indian journal of pediatrics

Published: October 07, 2025

New insights from the genetic work-up in early onset nephrotic syndrome: report from a registry in western India.

New insights from the genetic work-up in early onset nephrotic syndrome: report from a registry in western India.

Journal: Pediatric nephrology (Berlin, Germany)

Published: July 24, 2023

High prevalence of CFHR deletions in Indian women with pregnancy-associated hemolytic uremic syndrome.

High prevalence of CFHR deletions in Indian women with pregnancy-associated hemolytic uremic syndrome.

Journal: Nephrology (Carlton, Vic.)

Published: September 06, 2021

Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India.

Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India.

Journal: Endocrine

Published: May 02, 2020

A novel homozygous frameshift variant in the ABCC2-gene in Dubin-Johnson syndrome may predispose to chronic liver disease.

A novel homozygous frameshift variant in the ABCC2-gene in Dubin-Johnson syndrome may predispose to chronic liver disease.

Journal: Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology

Published: February 06, 2020

Atypical HUS Associated with CFH/CFHR-1 Hybrid Gene.

Atypical HUS Associated with CFH/CFHR-1 Hybrid Gene.

Journal: Indian journal of nephrology

Published: October 14, 2019

SMN1 gene copy number analysis for spinal muscular atrophy (SMA) in a Turkish cohort by CODE-SEQ technology, an integrated solution for detection of SMN1 and SMN2 copy numbers and the "2+0" genotype.

SMN1 gene copy number analysis for spinal muscular atrophy (SMA) in a Turkish cohort by CODE-SEQ technology, an integrated solution for detection of SMN1 and SMN2 copy numbers and the "2+0" genotype.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: October 10, 2019

Novel Mutations in the DGKE Gene in Two Indian Patients with Early-onset Atypical Haemolytic Uraemic Syndrome.

Novel Mutations in the DGKE Gene in Two Indian Patients with Early-onset Atypical Haemolytic Uraemic Syndrome.

Journal: Indian journal of nephrology

Published: October 01, 2019

A Targeted Next Generation Sequencing Panel for Non-syndromic Early Onset Severe Obesity and Identification of Novel Likely -Pathogenic Variants in the MC4R and LEP Genes.

A Targeted Next Generation Sequencing Panel for Non-syndromic Early Onset Severe Obesity and Identification of Novel Likely -Pathogenic Variants in the MC4R and LEP Genes.

Journal: Indian journal of pediatrics

Published: June 04, 2019

A Novel CYP21A2 Gene Mutation in Classic Congenital Adrenal Hyperplasia.

A Novel CYP21A2 Gene Mutation in Classic Congenital Adrenal Hyperplasia.

Journal: Indian pediatrics

Published: February 27, 2019

Detection of a novel mutation in the rpoB gene in a multidrug resistant Mycobacterium tuberculosis isolate using whole genome next generation sequencing.

Detection of a novel mutation in the rpoB gene in a multidrug resistant Mycobacterium tuberculosis isolate using whole genome next generation sequencing.

Journal: Journal of global antimicrobial resistance

Published: February 22, 2019

Showing 1-12 of 17

Last Updated: 09/26/2026