Frenny Sheth
7PUBLICATIONS
4CO-AUTHORS
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Publications (7)
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|Feb 27, 2026
Genotype-Phenotype Correlation Through Breakpoint Characterization of a Genomically Balanced Complex Chromosomal Rearrangement Using Long Read Sequencing.Frenny Sheth, Jhanvi Shah, Mamta Muranjan
|Nov 14, 2024
Complex chromosomal rearrangements in female carriers experiencing recurrent pregnancy loss or poor obstetric history and literature review.Frenny Sheth, Jhanvi Shah, Thomas Liehr
|Dec 03, 2021
A rare case of a male child with post-zygotic de novo mosaic variant c.538C > T in MECP2 gene: a case report of Rett syndrome.Jhanvi Shah, Harsh Patel, Deepika Jain
|Sep 25, 2020
Mosaic chromosome 18 anomaly delineated in a child with dysmorphism using a three-pronged cytogenetic techniques approach: a case report.Harsh Sheth, Sunil Trivedi, Thomas Liehr
|Aug 08, 2019
Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of India.Mehul Mistri, Sanjeev Mehta, Dhaval Solanki
|Oct 12, 2018
A child with intellectual disability and dysmorphism due to complex ring chromosome 6: identification of molecular mechanism with review of literature.Frenny Sheth, Thomas Liehr, Viraj Shah
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