Aradhana Mathur
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View article: Genetics of Ataxias in Indian Population: A Collative Insight from a Common Genetic Screening Tool
Genetics of Ataxias in Indian Population: A Collative Insight from a Common Genetic Screening Tool Open
Cerebellar ataxias (CAs) represent a group of autosomal dominant and recessive neurodegenerative disorders affecting cerebellum with or without spinal cord. Overall, CAs have preponderance for tandem nucleotide repeat expansions as an etio…
Genomic analysis of patients in a South Indian Community with autosomal dominant cortical tremor, myoclonus and epilepsy suggests a founder repeat expansion mutation in the<i>SAMD12</i>gene Open
Autosomal Dominant Cortical Tremor, Myoclonus and Epilepsy is a non-progressive disorder characterized by distal tremors. Autosomal Dominant Cortical Tremor, Myoclonus and Epilepsy has been reported globally with different genetic predispo…
An Indian child with Coats plus syndrome due to mutations in <span><i>STN1</i></span> Open
The role of the CTC1–STN1–TEN1 (CST) complex in Coats plus syndrome (CP), as well as other telomeropathy‐phenotypes and disorders of genome instability is well documented. We report an Indian child with a clinical diagnosis of CP who prese…
View article: Frequency spectrum of rare and clinically relevant markers in multi-ethnic Indian populations (ClinIndb): A resource for genomic medicine in India
Frequency spectrum of rare and clinically relevant markers in multi-ethnic Indian populations (ClinIndb): A resource for genomic medicine in India Open
Purpose:There have been concerted efforts towards cataloging rare and deleterious variants in different world population using high throughput genotyping and sequencing based methods. The Indian populations are underrepresented or its info…