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Aradhana Mathur

Institute of Genomics and Integrative Biology

6

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6

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Next Generation Sequencing and Cytogenetic Based Evaluation of Indian Pierre Robin Sequence Families Reveals CNV Regions of Modest Effect and a Novel LOXL3 Mutation.

2021 The Cleft Palate-Craniofacial Journal
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Next-Generation Sequencing for Congenital Nephrotic Syndrome: A Multi-Center Cross-Sectional Study from India.

2021 Indian Pediatrics
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Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation.

2021 Journal of neuromuscular diseases
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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 SAMD12 gene

2021
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An Indian child with Coats plus syndrome due to mutations in STN1.

2020 American Journal of Medical Genetics Part A
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Frequency spectrum of rare and clinically relevant markers in multiethnic Indian populations (ClinIndb): A resource for genomic medicine in India.

2020 Human Mutation
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