Sheetal Sharda

Ahmedabad, UP, India

Last Updated: 09/26/2026

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Found 18 publications

Binder Phenotype: Evaluating the Utility and Influence of Genetic Results on Parental Decision Making in Antenatally Diagnosed Cases.

Binder Phenotype: Evaluating the Utility and Influence of Genetic Results on Parental Decision Making in Antenatally Diagnosed Cases.

Journal: American journal of medical genetics. Part A

Published: June 02, 2025

Novel Inherited N-terminus TAP1 Variants and Severe Clinical Manifestations- Are Genotype-Phenotype Correlations Emerging?

Novel Inherited N-terminus TAP1 Variants and Severe Clinical Manifestations- Are Genotype-Phenotype Correlations Emerging?

Journal: Journal of clinical immunology

Published: August 20, 2024

Results of comprehensive genetic testing in patients presenting to a multidisciplinary inherited heart disease clinic in India.

Results of comprehensive genetic testing in patients presenting to a multidisciplinary inherited heart disease clinic in India.

Journal: Indian heart journal

Published: February 08, 2024

Exome sequencing and microarray identified a novel large exonic deletion in SYT2 gene in an ultra-rare case with recessive CMS type 7.

Exome sequencing and microarray identified a novel large exonic deletion in SYT2 gene in an ultra-rare case with recessive CMS type 7.

Journal: Journal of genetics

Published: February 01, 2023

Expanding the spectrum of ADNP-related disorder-Antenatally diagnosed congenital diaphragmatic hernia and a novel de novo mutation in ADNP gene.

Expanding the spectrum of ADNP-related disorder-Antenatally diagnosed congenital diaphragmatic hernia and a novel de novo mutation in ADNP gene.

Journal: American journal of medical genetics. Part A

Published: June 11, 2022

Detection of IEMs by Mass Spectrometry Techniques in High-Risk Children: A Pilot Study.

Detection of IEMs by Mass Spectrometry Techniques in High-Risk Children: A Pilot Study.

Journal: Indian journal of pediatrics

Published: September 11, 2021

A Young Girl With Bronchiectasis and Elevated Sweat Chloride.

A Young Girl With Bronchiectasis and Elevated Sweat Chloride.

Journal: Chest

Published: June 18, 2020

NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.

NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.

Journal: BMC medical genetics

Published: April 17, 2020

Seven novel genetic variants in a North Indian cohort with classical homocystinuria.

Seven novel genetic variants in a North Indian cohort with classical homocystinuria.

Journal: Scientific reports

Published: February 19, 2020

First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.

First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.

Journal: American journal of medical genetics. Part A

Published: February 12, 2019

Autosomal Recessive Cutis Laxa Type II: Report of Novel Mutation in a Child.

Autosomal Recessive Cutis Laxa Type II: Report of Novel Mutation in a Child.

Journal: Indian dermatology online journal

Published: October 06, 2017

Concentrations of leptin, adiponectin and other metabolic parameters in non-obese children with Down syndrome.

Concentrations of leptin, adiponectin and other metabolic parameters in non-obese children with Down syndrome.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: November 06, 2016

Showing 1-12 of 18

Last Updated: 09/26/2026