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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. Among authors: kausthubham n. 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.
Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling.
Narayanan DL, Udyawar D, Kaur P, Sharma S, Suresh N, Nampoothiri S, do Rosario MC, Somashekar PH, Rao LP, Kausthubham N, Majethia P, Pande S, Ramesh Bhat Y, Shrikiran A, Bielas S, Girisha KM, Shukla A. Narayanan DL, et al. Among authors: kausthubham n. Eur J Hum Genet. 2021 Dec;29(12):1774-1780. doi: 10.1038/s41431-021-00933-7. Epub 2021 Jul 19. Eur J Hum Genet. 2021. PMID: 34276053 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.
Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing.
Nayak SS, Schneeberger PE, Patil SJ, Arun KM, Suresh PV, Kiran VS, Siddaiah S, Maiya S, Venkatachalagupta SK, Kausthubham N, Kortüm F, Rau I, Wey-Fabrizius A, Van Den Heuvel L, Meester J, Van Laer L, Shukla A, Loeys B, Girisha KM, Kutsche K. Nayak SS, et al. Among authors: kausthubham n. Sci Rep. 2021 Jan 12;11(1):764. doi: 10.1038/s41598-020-80755-7. Sci Rep. 2021. PMID: 33436942 Free PMC article.
Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3.
Simsek-Kiper PO, Jacob P, Upadhyai P, Taşkıran ZE, Guleria VS, Karaosmanoglu B, Imren G, Gocmen R, Bhavani GS, Kausthubham N, Shah H, Utine GE, Boduroglu K, Girisha KM. Simsek-Kiper PO, et al. Among authors: kausthubham n. Hum Mutat. 2022 Dec;43(12):2116-2129. doi: 10.1002/humu.24478. Epub 2022 Oct 8. Hum Mutat. 2022. PMID: 36150098 Free PMC article. Review.
A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia.
Holling T, Bhavani GS, von Elsner L, Shah H, Kausthubham N, Bhattacharyya SS, Shukla A, Mortier GR, Schinke T, Danyukova T, Pohl S, Kutsche K, Girisha KM. Holling T, et al. Among authors: kausthubham n. Hum Mutat. 2022 May;43(5):625-642. doi: 10.1002/humu.24368. Epub 2022 Mar 21. Hum Mutat. 2022. PMID: 35266227