Sheela Nampoothiri

24PUBLICATIONS

123CO-AUTHORS

Epigenetics (incl. genome methylation and epigenomics)Medical biochemistry - amino acids and metabolitesOtorhinolaryngologyGene expression (incl. microarray and other genome-wide approaches)Genetic immunology

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Publications (24)

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|Jun 26, 2026

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

|May 30, 2024

Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy.

Lisa G Riley, Subrata Sabui, Hamid M Said

|May 03, 2024

Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome.

Swati Singh, Sheela Nampoothiri, Dhanya Lakshmi Narayanan

|Feb 20, 2024

Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth.

Frederike L Harms, Jessica Erin Rexach, Stephanie Efthymiou

|Dec 19, 2023

De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.

Shruti Pande, Purvi Majethia, Karthik Nair

|Jun 28, 2023

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.

Maninder Kaur, Justin Blair, Batsal Devkota

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Frequent Collaborators

10 joint publications

Katta Mohan Girisha

Anju Shukla

Shruti Pande

Sofie Symoens

Jeevan Kumar

Kerstin Kutsche

Dhanya Lakshmi Narayanan

2 joint publications

Tim Van Damme

2 joint publications

Shubha Phadke

2 joint publications

Delfien Syx

Frequent Collaborators

10 joint publications

Katta Mohan Girisha

4 joint publications

Anju Shukla

3 joint publications

Shruti Pande

2 joint publications

Sofie Symoens