Karthik Muthusamy

15PUBLICATIONS
32CO-AUTHORS
Genome structure and regulationAutoimmunityGene mappingDevelopmental genetics (incl. sex determination)Neurology and neuromuscular diseases
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Publications (15)

|Sep 09, 2026
A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

|Jun 26, 2026
MYH11-Related Hereditary Type 2 Visceral Myopathy in a Large Kindred: Diagnostic Odyssey With Milder Clinical Manifestations.

|Apr 23, 2026
Unmasking Compound Heterozygosity in GYG1 Myopathy: Diagnostic Insights From RNA-Seq and Long-Read Genomics.

|Apr 03, 2026
Expanding the Phenotype of TLK2-Related Neurodevelopmental Disorder: Longitudinal Presentation in Two Young Adult Females.

Alina Ivaniuk, Eva Kahn, Brendan Lanpher

|Sep 11, 2025
Clinical Practice Guidelines for the Diagnosis, Management, and Surveillance of LMNB1-Related Autosomal Dominant Leukodystrophy.

Radhika Dhamija, W Oliver Tobin, Pietro Cortelli

|Oct 06, 2022
Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: genomic signatures of a founder event.

Ananthapadmanabha Kotambail, Pavalan Selvam, Karthik Muthusamy

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Frequent Collaborators

3 joint publications

Jai Kumar Rajavoor Muniswamy

2 joint publications

Joseph D Farris

2 joint publications

Deepak Panwar

1 joint publications

Eric W Klee