Frenny Sheth

8PUBLICATIONS
13CO-AUTHORS
Infant and child healthEpigenetics (incl. genome methylation and epigenomics)Psychosocial aspects of childbirth and perinatal mental healthNeonatologyDevelopmental genetics (incl. sex determination)
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Publications (8)

|Sep 17, 2026
Expanding the genotypic and phenotypic spectrum of PGAP1 deficiency: clinical and functional insights from 15 patients.

|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

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Frequent Collaborators

3 joint publications

Thomas Liehr

2 joint publications

Jayesh Sheth

2 joint publications

Harsh Sheth

1 joint publications

Peining Li