Sheela Nampoothiri - Genetic Mutations

Author Information

Sheela Nampoothiri is a distinguished researcher affiliated with the Department of Pediatric Genetics at the Amrita Institute of Medical Sciences & Research Centre, located in Cochin, Kerala, India. Her work primarily focuses on genetic diseases, particularly those affecting pediatric populations.

Research Contributions

Sheela Nampoothiri has made significant contributions to the field of genetics, with a specific focus on rare genetic disorders. Her research includes the natural history and severity of liver diseases, management of Pompe disease, and the regulation of Liprin-α phase separation among other topics. Notably, her work has uncovered new phenotypic spectrums and genetic variants, expanding the understanding of complex genetic conditions.

Aliases

Sheela Nampoothiri is also known by several aliases including S Nampoothiri, S. Nampoothiri, and S.a Nampoothiri.

Publication and Citation Metrics

Metric	Value
Citation Count	7201
H-index	30
Paper Count	191

Publications:

eP208: GSD IX natural history and novel liver disease severity score: Multicenter international collaboration uncovers longitudinal trends in liver disease severity

DOI: 10.1016/j.gim.2022.01.244

Year: 2022

Successful Pregnancy Outcome in a Patient with Pompe Disease Receiving Enzyme Replacement Therapy: A Case Report and Review of the Literature

DOI: 10.26502/acmcr.96550461

Year: 2022

Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domain

DOI: 10.1101/2022.04.21.489014

Year: 2022

Novel biallelic variants expand the SLC5A6-related phenotypic spectrum

DOI: 10.1038/s41431-021-01033-2

Year: 2022

Monosomy 1p36: Report of a cohort of 13 Asian Indian patients

DOI: 10.1002/ajmg.a.62630

Year: 2022

Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator.

DOI: 10.1038/s41586-021-03208-9

Year: 2021

The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease

DOI: 10.1002/mgg3.1666

Year: 2021

PIGF deficiency causes a phenotype overlapping with DOORS syndrome

DOI: 10.1007/s00439-020-02251-2

Year: 2021

Loss of TANGO1 Leads to Absence of Bone Mineralization

DOI: 10.1002/jbm4.10451

Year: 2021

Werner syndrome: A rare cause of young-onset diabetes

DOI: 10.4103/jod.jod_35_20

Year: 2021

How is Sickle Cell Anemia Inherited?

How do TALENs work?

What are the Technical Challenges?

What are the Steps in Gene Cloning?

How Do Chemicals Cause Genetic Mutations?

What are Mutant Crop Varieties?

Can Genetic Testing Help?

What is the Future of Gene Therapy?

What are the Implications of BRCA1 and BRCA2 Mutations for Family Members?

How are CNVs Detected?

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