Publications by authors named "Jayesh Sheth"

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Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India.
Jayesh Sheth, Tejasvi Dhondekar, Manali Ajagekar, Chaitanya Datar, Archana Kher, Frenny Sheth, Harsh Sheth

Orphanet J Rare Dis· September 2025

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Long read whole genome sequencing-based discovery of structural variants and their role in aetiology of non-syndromic autism spectrum disorder in India.
Jhanvi Shah, Debasrija Mondal, Deepika Jain, Priti Mhatre, Ketan Patel, Jayesh Sheth, Frenny Sheth, Harsh Sheth

BMC Med Genomics· August 2025

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KBG Syndrome in 16 Indian Individuals.
Shruti Bajaj, Sheela Nampoothiri, Roshni Chugh, Jayesh Sheth, Frenny Sheth, Harsh Sheth

Am J Med Genet A· February 2025

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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

J Assist Reprod Genet· January 2025

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SCYL2-related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita-4 and beyond?
Marlène Malbos, Gabriella Vera, Harsh Sheth, Rhonda E Schnur, Aurélien Juven, Jayesh Sheth

Clin Genet· December 2024

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

Mol Genet Genomic Med· August 2024

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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, Harsh Sheth

Orphanet J Rare Dis· August 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, Frenny Sheth, Jayesh Sheth

Hum Genomics· May 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

Lancet Reg Health Southeast Asia· April 2024

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

Pediatr Neonatol· March 2024

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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, Harsh Sheth

JIMD Rep· March 2024

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Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test.
Frenny Sheth, Jhanvi Shah, Deepika Jain, Siddharth Shah, Harshkumar Patel, Jayesh Sheth, Harsh Sheth

BMC Neurol· August 2023

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

JIMD Rep· July 2023

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

BMC Pediatr· March 2023

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Lysosomal storage disorders: from biology to the clinic with reference to India.
Jayesh Sheth, Aadhira Nair, Babban Jee

Lancet Reg Health Southeast Asia· February 2023

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A novel case of two siblings harbouring homozygous variant in the NEUROG1 gene with autism as an additional phenotype: a case report.
Frenny Sheth, Jhanvi Shah, Ketan Patel, Darshan Patel, Deepika Jain, Jayesh Sheth, Harsh Sheth

BMC Neurol· January 2023

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

BMC Genomics· June 2022

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Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II.
Neha Agrawal, Gaurav Verma, Deepti Saxena, Madhulika Kabra, Neerja Gupta, Jayesh Sheth

Eur J Med Genet· March 2022

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Rapid molecular identification of a rare gene deletion & its clinical implication.
Priya Hariharan, Pratibha Sawant, Jayesh Sheth, Anita Nadkarni

Indian J Med Res· March 2022

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Vitamin K Insufficiency in the Indian Population: Pilot Observational Epidemiology Study.
Rama Vaidya, Ashok D B Vaidya, Jayesh Sheth, Shashank Jadhav, Umakant Mahale

JMIR Public Health Surveill· February 2022

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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.
Shruti Bajaj, Purnima Satoskar, Aadhira Nair, Frenny Sheth, Jayesh Sheth, Harsh Sheth

BMC Pediatr· February 2022

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Assessing Utility of Clinical Exome Sequencing in Diagnosis of Rare Idiopathic Neurodevelopmental Disorders in Indian Population.
Harsh Sheth, Dhairya Pancholi, Riddhi Bhavsar, Ashraf U Mannan, Aparna Ganapathy, Frenny Sheth, Jayesh Sheth

Neurol India· January 2022

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Juvenile Tay Sachs Disease Due to Compound Heterozygous Mutation in Hex-A Gene, with Early Sign of Bilateral Tremors.
Jayesh Sheth, Ira Mohapatra, Gangotri Patra, Riddhi Bhavsar, Chandni Patel

Ann Indian Acad Neurol· January 2022

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Clinical Characteristics, Molecular Profile, and Outcomes in Indian Patients with Glutaric Aciduria Type 1.
Parag M Tamhankar, Lakshmi Vasudevan, Pratima Kondurkar, Sarfaraj Niazi, Rita Christopher, Jayesh Sheth

J Pediatr Genet· September 2021

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Case Report: Recurrent Variant c.298 TA in Gene Found in Progressive Pseudorheumatoid Dysplasia Patients From Patni Community of Gujarat: A Report of Three Cases.
Harsh Sheth, Jhanvi Shah, Aadhira Nair, Premal Naik, Jayesh Sheth

Front Genet· September 2021

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