Search Results - Jayesh Sheth

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  1. 1

    Non-immune hydrops fetalis due to infantile sialidosis by Inusha Panigrahi, Sudhanshu Grover, Mahesh Hiranandani, Jayesh Sheth

    Published in Pediatrics and Neonatology (2024-03-01)
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  2. 2

    Case of a nodular ear by Astuty Apurwa, Palak Jayesh Sheth, Nitin Nadkarni, Sharmila Patil

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  3. 3

    An ultra-rare case of immunoskeletal dysplasia with neurodevelopmental abnormalities in an Indian patient with homozygous c.953C > T variant in EXTL3 gene: a case report by Shruti Bajaj, Purnima Satoskar, Aadhira Nair, Frenny Sheth, Jayesh Sheth, Harsh Sheth

    Published in BMC Pediatrics (2022-02-01)
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  4. 4

    The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome by Harsh Sheth, Premal Naik, Maulin Shah, Riddhi Bhavsar, Aadhira Nair, Frenny Sheth, Jayesh Sheth

    Published in BMC Genomics (2022-06-01)
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  5. 5

    Gain of Chromosome 4qter and Loss of 5pter: An Unusual Case with Features of Cri du Chat Syndrome by Frenny Sheth, Naresh Gohel, Thomas Liehr, Olakanmi Akinde, Manisha Desai, Olawaleye Adeteye, Jayesh Sheth

    Published in Case Reports in Genetics (2012-01-01)
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  6. 6

    Mosaic chromosome 18 anomaly delineated in a child with dysmorphism using a three-pronged cytogenetic techniques approach: a case report by Harsh Sheth, Sunil Trivedi, Thomas Liehr, Ketan Patel, Deepika Jain, Jayesh Sheth, Frenny Sheth

    Published in BMC Medical Genomics (2020-09-01)
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  7. 7

    Maculopathy and adult‐onset ataxia in patients with biallelic MFSD8 variants by Sigurd Dobloug, Ulrika Kjellström, Glenn Anderson, Emily Gardner, Sara E. Mole, Jayesh Sheth, Andreas Puschmann

    Published in Molecular Genetics & Genomic Medicine (2024-08-01)
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  8. 8

    48th annual meeting and international conference of the Indian Society of Human Genetics 2024: fostering collaborations within rare disease research community by Jayesh Sheth, Harsh Sheth, Frenny Sheth, Bittianda Kuttapa Thelma, Madhvi Joshi, Inderjeet Kaur, Chaitanya Joshi

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  9. 9

    Late infantile and adult‐onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene: Case report from India by Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, Heli Shah, Naresh Tayade, C. Ratna Prabha, Frenny Sheth, Harsh Sheth

    Published in JIMD Reports (2023-07-01)
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  10. 10

    Expanding the spectrum of HEXA mutations in Indian patients with Tay–Sachs disease by Jayesh Sheth, Mehul Mistri, Chaitanya Datar, Umesh Kalane, Shekhar Patil, Mahesh Kamate, Harshuti Shah, Sheela Nampoothiri, Sarita Gupta, Frenny Sheth

    Published in Molecular Genetics and Metabolism Reports (2014-01-01)
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  11. 11

    Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review by Jayesh Sheth, Siddharth Shah, Chaitanya Datar, Kaveri Bhatt, Pooja Raval, Aadhira Nair, Deepika Jain, Jhanvi Shah, Frenny Sheth, Harsh Sheth

    Published in BMC Pediatrics (2023-03-01)
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  12. 12

    Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. by Mehul Mistri, Parag M Tamhankar, Frenny Sheth, Daksha Sanghavi, Pratima Kondurkar, Swapnil Patil, Susan Idicula-Thomas, Sarita Gupta, Jayesh Sheth

    Published in PLoS ONE (2012-01-01)
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  13. 13

    Vitamin K Insufficiency in the Indian Population: Pilot Observational Epidemiology Study by Rama Vaidya, Ashok D B Vaidya, Jayesh Sheth, Shashank Jadhav, Umakant Mahale, Dilip Mehta, Janusz Popko, Vladimir Badmaev, Sidney J Stohs

    Published in JMIR Public Health and Surveillance (2022-02-01)
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  14. 14

    Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature by Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, Koumudi Godbole, Chaitanya Datar, Sheela Nampoothiri, Inusha Panigrahi, Heli Shah, Shruti Bajaj, Naresh Tayade, Naveen Bhardwaj, Harsh Sheth

    Published in JIMD Reports (2024-03-01)
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  15. 15

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

    Published in BMC Neurology (2018-12-01)
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  16. 16

    Long read whole genome sequencing-based discovery of structural variants and their role in aetiology of non-syndromic autism spectrum disorder in India by Jhanvi Shah, Debasrija Mondal, Deepika Jain, Priti Mhatre, Ketan Patel, Anand Iyer, Manoj Pandya, Bhargavi Menghani, Gayatri Dave, Jayesh Sheth, Frenny Sheth, Shweta Ramdas, Harsh Sheth

    Published in BMC Medical Genomics (2025-08-01)
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  17. 17

    Natural history of non-lethal Raine syndrome during childhood by Chiara Mameli, Giulia Zichichi, Nasim Mahmood, Siham Chafai Elalaoui, Adnan Mirza, Poonam Dharmaraj, Marco Burrone, Elisa Cattaneo, Jayesh Sheth, Ajit Gandhi, Gurpreet Singh Kochar, Fowzan Sami Alkuraya, Madhulika Kabra, Giuseppe Mercurio, Gianvincenzo Zuccotti

    Published in Orphanet Journal of Rare Diseases (2020-04-01)
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  18. 18

    Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test by Frenny Sheth, Jhanvi Shah, Deepika Jain, Siddharth Shah, Harshkumar Patel, Ketan Patel, Dhaval I Solanki, Anand S Iyer, Bhargavi Menghani, Priti Mhatre, Sanjiv Mehta, Shruti Bajaj, Vishal Patel, Manoj Pandya, Deepak Dhami, Darshan Patel, Jayesh Sheth, Harsh Sheth

    Published in BMC Neurology (2023-08-01)
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  19. 19

    Prenatal diagnosis of rare genetic disorders: fourteen years’ experience of a tertiary genetic centre from India by Jayesh Sheth, Tejasvi Dhondekar, Manali Ajagekar, Chaitanya Datar, Archana Kher, Jigish Trivedi, Swati Thakkar, Ajit Gandhi, Meenakshi Soni, Mayank Chaudhary, Manish Banker, Anil Jalan, Mamta Muranjan, Sujal Munshi, Ami Munshi, Mili Pandya, Jhanvi Shah, Aadhira Nair, Riddhi Bhavsar, Frenny Sheth, Harsh Sheth

    Published in Orphanet Journal of Rare Diseases (2025-09-01)
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  20. 20

    Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in In... by 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

    Published in Human Genomics (2024-05-01)
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