Mehul Mistri

Ahmedabad, GJ, India

Last Updated: 09/26/2026

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Found 24 publications

Whole Genome Sequencing-Based Diagnosis of Spinocerebellar Ataxia Type 3 Repeat Expansion Neuromuscular Disorders in an Undiagnosed Patient: Breaking Past Diagnostic Boundaries.

Whole Genome Sequencing-Based Diagnosis of Spinocerebellar Ataxia Type 3 Repeat Expansion Neuromuscular Disorders in an Undiagnosed Patient: Breaking Past Diagnostic Boundaries.

Journal: Neurology India
Published: July 15, 2024

Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.

Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.

Journal: Orphanet journal of rare diseases
Published: April 18, 2024

Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting.

Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting.

Journal: European journal of medical genetics
Published: October 29, 2022

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

Bi-allelic loss of function variants in GOLGA2 are associated with a complex neurological phenotype: Report of a second family.

Bi-allelic loss of function variants in GOLGA2 are associated with a complex neurological phenotype: Report of a second family.

Journal: Clinical genetics
Published: July 22, 2021

The diagnostic utility of exome-based carrier screening in families with a positive family history.

The diagnostic utility of exome-based carrier screening in families with a positive family history.

Journal: American journal of medical genetics. Part A
Published: April 27, 2021

Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.

Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.

Journal: Human mutation
Published: February 08, 2021

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.

Journal: BMC medical genetics
Published: October 29, 2018

Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of India.

Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of India.

Journal: Journal of human genetics
Published: October 15, 2018

Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients.

Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients.

Journal: BMC neurology
Published: August 14, 2018

Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India.

Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India.

Journal: BMC medical genetics
Published: July 16, 2018

Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India.

Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India.

Journal: BMC medical genetics
Published: October 26, 2017
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Last Updated: 09/26/2026