Publications by authors named "Deepak Dhami"
Article Synopsis
- Autism spectrum disorder (ASD) has a growing prevalence globally, with this study focusing on its genetic basis in India, marking the lack of prior data on this region.
- Genetic testing with whole exome sequencing (WES) was evaluated as a preferred first-tier diagnostic tool compared to chromosomal microarray (CMA) in a cohort of Indian patient-parent trios diagnosed with ASD.
- The results indicated that WES identified a higher rate of genetic diagnoses (29.7%) compared to CMA (2.9%), revealing a significant occurrence of de novo variants, particularly in genes associated with key neurological functions, with the MECP2 gene being notably affected.
Background: Mycobacterium tuberculosis(MTB) remains a major public health problem worldwide, and emergence of drug-resistant TB has become a significant obstacle to effective TB control. However, the rate of MTB and rifampicin resistant-MTB (RR-MTB) in the Nepalese setting has not been studied extensively. Therefore, the present study aims to assess the rate of MTB and RR-MTB and further determine the factors associated with it.
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