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Jayesh Sheth | doi.page

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Jayesh Sheth

Centre For Human Genetics(IN)Ahmedabad University(IN)

Publications by Year

Research Areas

Lysosomal Storage Disorders Research, Genomic variations and chromosomal abnormalities, Cellular transport and secretion, Trypanosoma species research and implications, Genomics and Rare Diseases

Most-Cited Works

→ Ring chromosome 9 in a dysmorphic child(2007)73 cited
→ Does vitamin D play a significant role in type 2 diabetes?(2015)69 cited
→ Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation(2019)65 cited
→ Burden of Lysosomal Storage Disorders in India: Experience of 387 Affected Children from a Single Diagnostic Facility(2013)60 cited
→ Maternal one‐carbon metabolism, MTHFR and TCN2 genotypes and neural tube defects in India(2011)59 cited
→ Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility(2009)57 cited

→ The association of dyslipidemia and obesity with glycated hemoglobin(2015)

55 cited

→ Identification of Novel Mutations in HEXA Gene in Children Affected with Tay Sachs Disease from India(2012)47 cited

→ The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region(1997)43 cited

→ Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease(2014)40 cited