Publications by authors named "Mehul Mistri"

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Whole Genome Sequencing-Based Diagnosis of Spinocerebellar Ataxia Type 3 Repeat Expansion Neuromuscular Disorders in an Undiagnosed Patient: Breaking Past Diagnostic Boundaries.
Hari Shankar Kumar, Nidhi Shah, Parth Shah, Udhaya Kotecha, Mehul Mistri

Neurol India· May 2025

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Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Jayesh Sheth, Aadhira Nair, Frenny Sheth, Manali Ajagekar, Tejasvi Dhondekar, Mehul Mistri

Orphanet J Rare Dis· August 2024

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Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting.
Rayabarapu Pranav Chand, Wankhede Vinit, Varsha Vaidya, Anand Subramaniam Iyer, Madhavi Shelke, Mehul Mistri

Eur J Med Genet· May 2023

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Expanding the spectrum of ADNP-related disorder-Antenatally diagnosed congenital diaphragmatic hernia and a novel de novo mutation in ADNP gene.
Prashant Asegaonkar, Udhaya Kotecha, Mayuresh Dongre, Mehul Mistri, Sheetal Sharda

Am J Med Genet A· January 2023

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The diagnostic utility of exome-based carrier screening in families with a positive family history.
Udhaya Hardik Kotecha, Mehul Mistri, Pranavchand Rayabarapu, Parth Shah, Nidhi Shah

Am J Med Genet A· April 2022

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Bi-allelic loss of function variants in GOLGA2 are associated with a complex neurological phenotype: Report of a second family.
Udhaya Kotecha, Mehul Mistri, Nidhi Shah, Parth S Shah, Vandana A Gupta

Clin Genet· December 2021

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Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.
Dipti Deshpande, Shailesh Kumar Gupta, Asodu Sandeep Sarma, Prajnya Ranganath, Jamal Md Nurul Jain S, Mehul Mistri

Hum Mutat· October 2021

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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.
Mehul Mistri, Sanjeev Mehta, Dhaval Solanki, Mahesh Kamate, Neerja Gupta

J Hum Genet· October 2019

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Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.
Jayesh Sheth, Riddhi Bhavsar, Mehul Mistri, Dhairya Pancholi, Ashish Bavdekar

BMC Med Genet· February 2019

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Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients.
Jayesh Sheth, Mehul Mistri, Riddhi Bhavsar, Dhairya Pancholi, Mahesh Kamate

BMC Neurol· December 2018

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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.
Jayesh Sheth, Dhairya Pancholi, Mehul Mistri, Payal Nath, Chitra Ankleshwaria

BMC Med Genet· October 2018

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Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India.
Jayesh Sheth, Mehul Mistri, Lakshmi Mahadevan, Sanjeev Mehta, Dhaval Solanki

BMC Med Genet· July 2018

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Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature.
Jayesh Sheth, Jijo John Joseph, Krati Shah, Mamta Muranjan, Mehul Mistri

BMC Med Genet· January 2017

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Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience.
Jayesh Sheth, Mehul Mistri, Krati Shah, Mayank Chaudhary, Koumudi Godbole

JIMD Rep· December 2016

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GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review.
Jayesh Sheth, Chaitanya Datar, Mehul Mistri, Riddhi Bhavsar, Frenny Sheth

BMC Pediatr· July 2016

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Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease.
Parag M Tamhankar, Mehul Mistri, Pratima Kondurkar, Daksha Sanghavi, Jayesh Sheth

J Hum Genet· February 2016

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Lysosomal Storage Disorders in Indian Children with Neuroregression Attending a Genetic Center.
Jayesh Sheth, Mehul Mistri, Riddhi Bhavsar, Frenny Sheth, Mahesh Kamate

Indian Pediatr· December 2015

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Novel mutation in the XPC gene: a case report of a patient with xeroderma pigmentosum.
Jayesh Sheth, Mehul Mistri, Riddhi Bhavsar, Harsh Patel, Frenny Sheth

Int J Dermatol· November 2015

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Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
Chitra Ankleshwaria, Mehul Mistri, Ashish Bavdekar, Mamta Muranjan, Usha Dave

J Hum Genet· May 2015

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Expanding the spectrum of mutations in Indian patients with Tay-Sachs disease.
Jayesh Sheth, Mehul Mistri, Chaitanya Datar, Umesh Kalane, Shekhar Patil

Mol Genet Metab Rep· September 2014

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Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
Chitra Ankleshwaria, Mehul Mistri, Ashish Bavdekar, Mamta Muranjan, Usha Dave

J Hum Genet· April 2014

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Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.
Jayesh Sheth, Mehul Mistri, Frenny Sheth, Raju Shah, Ashish Bavdekar

JIMD Rep· January 2014

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Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.
Mehul Mistri, Parag M Tamhankar, Frenny Sheth, Daksha Sanghavi, Pratima Kondurkar

PLoS One· December 2012

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