Dr. Mehul A. Mistri

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About Me:

  • Address:

    10, A - Chandraprabha Society, Chandlodia, Ahmedabad-382481 Gujarat, India

  • Contact:

    Phone: +91-9913345194
    Email: mistrimehul@yahoo.co.in

Dr. Mehul A. Mistri

Scientist (Inherited Genomics and Metabolism) | Doctor of Philosophy (Ph.D.) in Biochemistry with coursework

RESEARCH & ACADEMIC EXPERIENC

  • Scientist (Inherited Genomics and Metabolism) (July, 2018 - Present) {Neuberg Center for Genomic Medicine (NCGM), Neuberg Supratech Reference Laboratories, Ahmedabad, Gujarat, India.}
  • Research Associate (January, 2015 – June, 2018)
  • Senior Research Fellow (January 2011 – December 2014)
  • Junior Research Fellow (May 2008 – December 2010) {Foundation for Research in Genetics and Endocrinology (FRIGE), Ahmedabad, Gujarat, India (2008 – 2018)}

EDUCATION

Doctor of Philosophy (Ph.D.) in Biochemistry with coursework (2010 - 2017)

Department of Biochemistry, Faculty of Science

The M. S. University of Baroda and FRIGE’s Institute of Human Genetics.

    • Master of Science (M.Sc.) in Biochemistry with Dissertation (2006 - 2008)

BRD School of Bioscience, Sardar Patel University, Anand, Gujarat, India.

    • Bachelor of Science (B.Sc.) in Biochemistry (2004 - 2006)

C. U. Shah Science collage, Gujarat University, Ahmedabad, Gujarat, India.

EDUCATIONAL TRAINING

  • Medical Laboratory Quality Management System & Internal Auditor’s Training

    (As per ISO15189:2012, 15189:2022 & NABL-112) (2022 & 2023) Neuberg Center for Genomic Medicine (NCGM), Ahmedabad, Gujarat.

  • Genomic Variant analysis and Clinical Interpretation Course (Online) (2022) {CSIR Institute of Genomics & Integrative Biology (CSIR-IGIB), New-Delhi.}
  • International Summit of Human Genetics and Genomics (2018) {National Human Genome Research Institute (NHGRI), at Nation Institute of Health (NIH) campus, Bethesda, MD, USA.}
  • ICMR     orkshop on Basics of Bioinformatics and it Application (2012) {National Institute for Research in Reproductive Health (NIRRH), Parel, Mumbai.}
  • Introduction and Application of Sanger sequencing (2011) Genetic research centre-NIRRH-ICMR, Parel, Mumbai.
  •  Introduction to Real-Time PCR (2011) Life Technologies (India) Pvt. Ltd., Gurgaon, Haryana

AWARDS & HONOUR

  • International Travel Fellowship to attend SSIEM annual symposium (2018)
  • Complete Fellowship to attend International Summit in Human Genetics and Genomics (2018)
  • International Travel Fellowship to attend SSIEM annual symposium (2015)
  • ISHG Young Scientist Award (2014)
  • International Travel Award for Developing Country to attend ICHG and ASHG annual meeting (2011)

PUBLICATIONS 

Hari Shankar Kumar, Nidhi Shah, Parth Shah, Udhaya Kotecha, Mehul Mistri, Bushra Jarullah. Whole Genome Sequencing-Based Diagnosis of Spinocerebellar Ataxia Type 3 Repeat Expansion Neuromuscular Disorders in an Undiagnosed Patient: Breaking Past Diagnostic Boundaries. Neurology India ():10.4103/neurol-india.Neurol-India-D-24-00552,

March 28, 2025. | DOI: 10.4103/neurol-india.Neurol-India-D-24-00552

  • Jayesh Sheth, Aadhira Nair, Frenny Sheth, Manali Ajagekar, Tejasvi Dhondekar, Inusha Panigrahi, Ashish Bavdekar, Sheela Nampoothiri, Chaitanya Datar, Ajit Gandhi, Mamta Muranjan, Anupriya Kaur, Manisha Desai, Mehul Mistri, Chitra Patel, Premal Naik, Maulin Shah, Koumudi Godbole, Seema Kapoor, Neerja Gupta, Sunita Bijarnia-Mahay, Sandeep Kadam, Dhaval Solanki, Soham Desai, Anand Iyer, Ketan Patel, Harsh Patel, Raju C. Shah, Shalmi Mehta, Ruchi Shah, Riddhi Bhavsar, Jhanvi Shah, Mili Pandya, Bhagyadhan Patel, Sudhir Shah, Heli Shah, Shalin Shah, Shruti Bajaj, Siddharth Shah, Nilam Thaker, Umesh Kalane, Mahesh Kamate, Vykunta Raju KN, Naresh Tayade, Sujatha Jagadeesan, Deepika Jain, Mitesh Chandarana, Jitendra Singh, Sanjiv Mehta, Beena Suresh & Harsh Sheth. Burden of rare genetic disorders in India: twenty-two years’ experience of a tertiary centre. Orphanet J Rare Dis 19, 295 (2024). https://doi.org/10.1186/s13023-024-03300-z
  • Kumari Pritti, Vineet Mishra, Somesh Aggarwal, Mehul Mistri, Manisha Chhetry (2024). Novel mutation as a cause of anterior segment dysgenesis leading to blindness in progeny: the genetics decoded!. Egypt J Med Hum Genet 25, 20.
  • Sarbani Raha, Udhaya Kotecha, Mehul Mistri, Parth Shah, Sheetal Sharda (2023). Familial Infantile spasm syndrome due to biallelic variants in the gene encoding UFM1-specific peptidase 2 (UFSP2), Medical Reports, 2023, 100002.
  • Rayabarapu Pranav Chand, Wankhede Vinit, Varsha Vaidya, Anand Subramaniam Iyer, Madhavi Shelke, Shagun Aggarwal, Suvarna Magar, Sumita Danda, Amita Moirangthem, Shubha Rajendra Phadke, Manisha Goyal, Prajnya Ranganath, Mehul Mistri, Parth Shah, Nidhi Shah, Udhaya Hardik Kotecha (2023). Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting. Eur J Med Genet. 2023 May;66(5):104730.
  • Prashant Asegaonkar, Udhaya Kotecha, Mayuresh Dongre, Mehul Mistri, Sheetal Sharda (2023). Expanding the spectrum of ADNP-related disorder-Antenatally diagnosed congenital diaphragmatic hernia and a novel de novo mutation in ADNP gene. Am J Med Genet A. 2023 Jan;191(1):275-279.
  • Udhaya Hardik Kotecha, Mehul Mistri, Pranavchand Rayabarapu, Parth Shah, Nidhi Shah (2022). The diagnostic utility of exome-based carrier screening in families with a positive family history. Am J Med Genet A. 2022 Apr;188(4):1323-1333.
  • Udhaya Kotecha, Mehul Mistri, Nidhi Shah, Parth S. Shah, Vandana A. Gupta (2021). Bi- allelic loss of function variants in GOLGA2 are associated with a complex neurological phenotype: Report of a second family. Clin Genet. 2021 Dec;100(6):748-751.
  • Dipti Deshpande, Shailesh Kumar Gupta, Asodu Sandeep Sarma, Prajnya Ranganath, Jamal Md Nurul Jain S, Jayesh Sheth, Mehul Mistri, Neerja Gupta, Madhulika Kabra, Shubha R Phadke, Katta M Girisha, Ratna Dua Puri, Shagun Aggarwal, Chaitanya Datar, Kausik Mandal, Preetha Tilak, Mamta Muranjan, Sunita Bijarnia-Mahay, Radha Rama Devi A, Naresh B Tayade, Akash Ranjan, Ashwin B Dalal (2021). Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency. Human Mutation, 42(10), 1336 - 1350.
  • Divya Pasumarthi, Neerja Gupta, Jayesh Sheth, S Jamal Nurul Jain, Ikrormi Rungsung, Madhulika Kabra, Prajnya Ranganath, Shagun Aggarwal, Shubha Phadke, Katta Girisha, Anju Shukla, Chaitanya Datar, IC Verma, Ratna Puri, Riddhi Bhavsar, Mehul Mistri, VH Sankar, Kalpana Gowrishankar, Divya Agrawal, Mohandas Nair, Sumita Danda, Jai Soni, Ashwin Dalal (2020). Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III. J Hum Genet, July 2020, 1- 14.
  • Mehul Mistri, Sanjiv Mehta, Dhaval Solanki, Mahesh Kamate, Neerja Gupta, Madhulika Kabra, Ratna Puri, Girish Katta, VH Sankar, Sheela Nampoothiri, Frenny Sheth, Jayesh Sheth (2019). Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric taskforce on lysosomal storage disorders by Government of India. J Hum Genet 64, 985–994.
  • Jayesh Sheth, Riddhi Bhavsar, Mehul Mistri, Dhairya Pancholi, Ashish Bavdekar, Ashwin Dalal, Prajanya Ranganath, Girisha KM, Anju Shukla, Shubha Phadke, Ratna Puri, Inusha Panigrahi, Anupriya Kaur, Mamta Muranjan, Manisha Goyal, Radha Ramadevi, Raju Shah, Sheela Nampoothiri, Sunita Danda, Chaitanya Datar, Seema Kapoor, Seema Bhatwadekar, Frenny Sheth (2019). Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation. BMC Med Genet. 14;20(1):31.
  • Jayesh Sheth, Mehul Mistri, Riddhi Bhavsar, Dhairya Pancholi, Mahesh Kamate, Neerja Gupta, Madhulika Kabra, Sanjiv Mehta, Sheela Nampoothiri, Arpita Thakker, Vivek Jain, Raju Shah, Frenny Sheth (2018). Batten disease: Biochemical and Molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients. BMC Neurol. 18(1):203.
  • Jayesh Sheth, Dhairya Pancholi, Mehul Mistri, Payal Nath, Chitra Ankleshwaria, Riddhi Bhavsar, Ratna Puri, Shubha Phadke and Frenny Sheth (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. BMC Medical Genetics 19: 178.
  • Jayesh Sheth, Mehul Mistri, Lakshmi Mahadevan, Sanjeev Mehta, Dhaval Solanki, Mahesh Kamate, Frenny Sheth (2018). Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India. BMC Medical Genetics 19: 109.
  • Jayesh Sheth, Jijo John Joseph, Krati Shah, Mamta Muranjan, Mehul Mistri and Frenny Sheth (2017). Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature. BMC Medical Genetics 18:5.
  • Jayesh Sheth, Mehul Mistri, Sheela Namoothiri, Riddhi Bhavsar, Inusha Panigrahi, Mahesh Kamate, Frenny Sheth (2017). Quantitative and Qualitative Analysis of Urinary Glycosaminoglycans (GAGs). Arch Pediatr: JPED-122. DOI:10.29011/2575-825X. 100022.
  • Jayesh J Sheth, Mehul Mistri, Krati Shah, Mayank Chaudhary, Koumudi Godbole, Frenny Sheth (2016). Lysosomal storage disorders in non-immune hydrops fetalis (NIHF) - An Indian Experience. JIMD Rep. Dec 8.
  • Jayesh Sheth, Chaitanya Datar, Mehul Mistri, Riddhi Bhavsar, Frenny Sheth, Krati Shah (2016). GM2gangliosidosis AB variant: Novel mutation from India – a case report with review. BMC Pediatrics 16:88.
  • Parag M Tamhankar*, Mehul Mistri*, Pratima Kondurkar, Daksha Sanghavi and Jayesh Sheth (2016). Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease. J Hum Genet. 61: 163-166. (DOI: 10.1038/jhg.2015.130). (* Joint first author)
  • Jayeh Sheth, Mehul Mistri, Riddhi Bhavsar, Frenny Sheth, Mahesh Kamate, Harshuti Shah, Chaitanya Datar (2015). Lysosomal storage disorders in Indian children with neuroregression attending a genetic center. Indian Pediatr. 52(12):1029-1033.