Jayesh J Sheth - Institute of Human Genetics

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Bio

Pioneer fo genetic services in Gujarat and established for the first time in India that Gaucher disease is the most common storage disorder with L444P as the common mutation. Also shown that E462 V is the founder mutation for Tay Sachs disease in Indian patients . Demonstrated that Vitamin D deficiency is seen in 90% with 54% patients with dyslipidemia and 72% with central obesity in Urban Indian population.Currently working on National task force study on LSDs in India.

Research Interests

Papers共 139 篇Author StatisticsCo-AuthorSimilar Experts

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Non-immune hydrops fetalis due to infantile sialidosis

Inusha Panigrahi, Sudhanshu Grover, Mahesh Hiranandani,Jayesh Sheth

PEDIATRICS AND NEONATOLOGY（2024）

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Maculopathy and Adult-Onset Ataxia in Patients with Biallelic MFSD8 Variants

Sigurd Dobloug,Ulrika Kjellstroem,Glenn Anderson,Emily Gardner,Sara E. Mole,Jayesh Sheth,Andreas Puschmann

MOLECULAR GENETICS & GENOMIC MEDICINEno. 8 (2024)

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Non-immune Hydrops Fetalis Due to Infantile Sialidosis

Inusha Panigrahi, Sudhanshu Grover, Mahesh Hiranandani,Jayesh Sheth

Pediatrics & neonatologyno. 2 (2024): 212-213

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Fifteen Years of Exome Sequencing Involving >800 Cases of DSD. What Have We Learned

Ken McElreavey,Housna Zidoune,Somboon Wankanit,Inas Mazen,Evgenia Globa,Laetitia Martinerie,Juliane Leger,Khouloud Rjiba,Soumaya Mougou-Zerelli,Hassan Rouba, Hanane Latrech,Rita Bertalan,Lionel Van Maldergem,David Rodriguez-Buritica,Bochra Ben Rhouma,Neila Belguith,Mehdi Totonchi,Maeva Elzaiat,Yardena Tenenbaum-Rakover,Selma Witchel, Alicia Belgorosky,Jayesh Sheth,Frenny Sheth,Ishwar Verma, Rashmi Shukla,Inusha Panigrahi,Jean-Pierre Siffroi, Richard Quinton,Nils Krone,Nirmala Sirisena,Laurene Schlick,Denis Houzelstein, Samar Hassan,Prochi Madon, Jyotsna Kirtane,Faisal Ahmed,Raja Brauner,John Achermann,Anu Bashamboo

SEXUAL DEVELOPMENT (2024): 73-75

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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, 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

ORPHANET JOURNAL OF RARE DISEASESno. 1 (2024)

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Development, Validation and Application of Single Molecule Molecular Inversion Probe Based Novel Integrated Genetic Screening Method for 29 Common Lysosomal Storage Disorders in India

Harsh Sheth,Aadhira Nair,Riddhi Bhavsar,Mahesh Kamate,Vykuntaraju K. Gowda,Ashish Bavdekar,Sandeep Kadam,Sheela Nampoothiri,Inusha Panigrahi,Anupriya Kaur,Siddharth Shah,Sanjeev Mehta, Sujatha Jagadeesan,Indrani Suresh,Seema Kapoor,Shruti Bajaj,Radha Rama Devi, Ashka Prajapati,Koumudi Godbole,Harsh Patel, Zulfiqar Luhar,Raju C. Shah,Anand Iyer,Sunita Bijarnia,Ratna Puri,Mamta Muranjan, Ami Shah,Suvarna Magar,Neerja Gupta,Naresh Tayade, Ajit Gandhi, Ajit Sowani, Shrutikaa Kale,Anil Jalan,Dhaval Solanki,Ashwin Dalal,Shrikant Mane,C. Ratna Prabha,Frenny Sheth,Chaitanya G. Joshi,Madhvi Joshi,Jayesh Sheth

Human Genomicsno. 1 (2024): 1-20

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Lysosomal Storage Disorders Identified in Adult Population from India: Experience of a Tertiary Genetic Centre and Review of Literature

Jayesh Sheth,Aadhira Nair,Riddhi Bhavsar,Koumudi Godbole,Chaitanya Datar,Sheela Nampoothiri,Inusha Panigrahi,Heli Shah,Shruti Bajaj,Naresh Tayade, Naveen Bhardwaj,Harsh Sheth

JIMD reportsno. 2 (2024): 85-101

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KBG Syndrome in 16 Indian Individuals

Shruti Bajaj,Sheela Nampoothiri, Roshni Chugh,Jayesh Sheth,Frenny Sheth,Harsh Sheth, Vinu Narayan, Ameya Deshpande, Anaita Hegde,Aradhana Dwivedi, Dhanya Yeshodharan, Indu Khosla,Madhukar Mittal, Mahesh Kore,Vedam Ramprasad, C. Anbu Kayalvizhi,Katta M. Girisha

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2024)

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48Th Annual Meeting and International Conference of the Indian Society of Human Genetics 2024: Fostering Collaborations Within Rare Disease Research Community

Jayesh Sheth,Harsh Sheth,Frenny Sheth,Bittianda Kuttapa Thelma,Madhvi Joshi,Inderjeet Kaur,Chaitanya Joshi

The Lancet regional health Southeast Asia (2024): 100373-100373

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Complex Chromosomal Rearrangements in Female Carriers Experiencing Recurrent Pregnancy Loss or Poor Obstetric History and Literature Review

Frenny Sheth,Jhanvi Shah,Thomas Liehr, Manisha Desai, Hetankshi Patel,Jayesh Sheth,Harsh Sheth

Journal of assisted reproduction and genetics (2024)

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