Sheela Nampoothiri

Kochi, MH, India

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 159 publications

Molecular characterization of individuals with RASopathies: Spectrum of genetic variants in a large Indian cohort.

Molecular characterization of individuals with RASopathies: Spectrum of genetic variants in a large Indian cohort.

Journal: Journal of genetics
Published: June 11, 2026

Long-Term Outcomes of Enzyme Replacement Therapy in Indian Patients with Gaucher Disease - A Multicentric Study.

Long-Term Outcomes of Enzyme Replacement Therapy in Indian Patients with Gaucher Disease - A Multicentric Study.

Journal: Indian journal of pediatrics
Published: May 14, 2026

Clinical, biochemical and molecular spectrum of acute neuronopathic type 2 Gaucher disease from India.

Clinical, biochemical and molecular spectrum of acute neuronopathic type 2 Gaucher disease from India.

Journal: BMC pediatrics
Published: April 02, 2026

Impact of Enzyme Replacement Therapy on Patients with Late Onset Pompe Disease - Real World Data from a Developing Country.

Impact of Enzyme Replacement Therapy on Patients with Late Onset Pompe Disease - Real World Data from a Developing Country.

Journal: Indian journal of pediatrics
Published: March 25, 2026

Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders.

Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders.

Journal: American journal of medical genetics. Part A
Published: February 20, 2026

Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.

Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.

Journal: medRxiv : the preprint server for health sciences
Published: February 06, 2026

Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.

Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.

Journal: European journal of human genetics : EJHG
Published: February 02, 2026

Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.

Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.

Journal: Orphanet journal of rare diseases
Published: October 31, 2025

RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.

RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 13, 2025

RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort.

RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 13, 2025

Impaired SERPINF1 Expression due to c.[-37C>A];[829_831del] Causes Osteogenesis Imperfecta VI.

Impaired SERPINF1 Expression due to c.[-37C>A];[829_831del] Causes Osteogenesis Imperfecta VI.

Journal: American journal of medical genetics. Part A
Published: September 09, 2025

A homozygous synonymous variant in SMG5, encoding a nonsense-mediated mRNA decay factor, causes developmental delay with growth retardation and relative macrocephaly.

A homozygous synonymous variant in SMG5, encoding a nonsense-mediated mRNA decay factor, causes developmental delay with growth retardation and relative macrocephaly.

Journal: Human genetics
Published: July 30, 2025
Showing 1-12 of 159

Last Updated: 09/26/2026