Sheela Nampoothiri

Statistics

Publications

103

Citations

H-Index

Active since

2008

Affiliations

Amrita Institute of Medical Sciences and Research Centre(Current)

Kasturba Medical College, Manipal

Manipal Academy of Higher Education

Inserm

Sir Ganga Ram Hospital

Sheela Nampoothiri is an author at Amrita Institute of Medical Sciences and Research Centre specializing in genetics, life sciences, and genetic disorders.

ORCID

Publications per year

2008–2024

103

Publications

103

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

Yanick J. Crow, Diana Chase, Johanna L. Schmidt et al. · American Journal of Medical Genetics Part A · 2015 · 613 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA

Patrick Edery, Charles Marcaillou, Mourad Sahbatou et al. · Science · 2011 · 227 citations

Life Sciences, Molecular Biology, Molecular Genetics +16

The genetic basis of DOORS syndrome: an exome-sequencing study

Philippe M. Campeau, Dalia Kasperavičiūtė, James T. Lu et al. · The Lancet Neurology · 2013 · 227 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout et al. · Human Mutation · 2013 · 220 citations

Life Sciences, Genetics, Molecular Genetics +17

Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome

Valérie Malan, Diana Rajan, Sophie Thomas et al. · The American Journal of Human Genetics · 2010 · 174 citations · Full text

Life Sciences, Genetics, Molecular Biology +15

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