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2016 3
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Page 1
Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities.
Kaur P, do Rosario MC, Hebbar M, Sharma S, Kausthubham N, Nair K, A S, Bhat Y R, Lewis LES, Nampoothiri S, Patil SJ, Suresh N, Bijarnia Mahay S, Dua Puri R, Pai S, Kaur A, Kc R, Kamath N, Bajaj S, Kumble A, Shetty R, Shenoy R, Kamate M, Shah H, Muranjan MN, Bl Y, Avabratha KS, Subramaniam G, Kadavigere R, Bielas S, Girisha KM, Shukla A. Kaur P, et al. Clin Genet. 2021 Nov;100(5):542-550. doi: 10.1111/cge.14037. Epub 2021 Jul 30. Clin Genet. 2021. PMID: 34302356 Free PMC article.
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N, Shukla A, Gupta N, Bhavani GS, Kulshrestha S, Das Bhowmik A, Moirangthem A, Bijarnia-Mahay S, Kabra M, Puri RD, Mandal K, Verma IC, Bielas SL, Phadke SR, Dalal A, Girisha KM. Kausthubham N, et al. Hum Mutat. 2021 Apr;42(4):e15-e61. doi: 10.1002/humu.24172. Epub 2021 Mar 1. Hum Mutat. 2021. PMID: 33502066 Free PMC article.
Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency.
Srivastava A, Srivastava KR, Hebbar M, Galada C, Kadavigrere R, Su F, Cao X, Chinnaiyan AM, Girisha KM, Shukla A, Bielas SL. Srivastava A, et al. Eur J Hum Genet. 2018 Nov;26(11):1582-1587. doi: 10.1038/s41431-018-0209-0. Epub 2018 Jul 5. Eur J Hum Genet. 2018. PMID: 29976978 Free PMC article.
19 results