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Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice.
Bademci G, Lachgar-Ruiz M, Deokar M, Zafeer MF, Abad C, Yildirim Baylan M, Ingham NJ, Chen J, Sineni CJ, Vadgama N, Karakikes I, Guo S, Duman D, Singh N, Harlalka G, Jain SP, Chioza BA, Walz K, Steel KP, Nasir J, Tekin M. Bademci G, et al. Among authors: vadgama n. Proc Natl Acad Sci U S A. 2022 Jun 28;119(26):e2204084119. doi: 10.1073/pnas.2204084119. Epub 2022 Jun 21. Proc Natl Acad Sci U S A. 2022. PMID: 35727972 Free PMC article.
SARS-CoV-2 Susceptibility and ACE2 Gene Variations Within Diverse Ethnic Backgrounds.
Vadgama N, Kreymerman A, Campbell J, Shamardina O, Brugger C, Research Consortium GE, Deaconescu AM, Lee RT, Penkett CJ, Gifford CA, Mercola M, Nasir J, Karakikes I. Vadgama N, et al. Front Genet. 2022 Apr 27;13:888025. doi: 10.3389/fgene.2022.888025. eCollection 2022. Front Genet. 2022. PMID: 35571054 Free PMC article.
De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes.
Vadgama N, Pittman A, Simpson M, Nirmalananthan N, Murray R, Yoshikawa T, De Rijk P, Rees E, Kirov G, Hughes D, Fitzgerald T, Kristiansen M, Pearce K, Cerveira E, Zhu Q, Zhang C, Lee C, Hardy J, Nasir J. Vadgama N, et al. Eur J Hum Genet. 2019 Jul;27(7):1121-1133. doi: 10.1038/s41431-019-0376-7. Epub 2019 Mar 18. Eur J Hum Genet. 2019. PMID: 30886340 Free PMC article. Clinical Trial.
Unfolded Protein Response as a Compensatory Mechanism and Potential Therapeutic Target in PLN R14del Cardiomyopathy.
Feyen DAM, Perea-Gil I, Maas RGC, Harakalova M, Gavidia AA, Arthur Ataam J, Wu TH, Vink A, Pei J, Vadgama N, Suurmeijer AJ, Te Rijdt WP, Vu M, Amatya PL, Prado M, Zhang Y, Dunkenberger L, Sluijter JPG, Sallam K, Asselbergs FW, Mercola M, Karakikes I. Feyen DAM, et al. Among authors: vadgama n. Circulation. 2021 Aug 3;144(5):382-392. doi: 10.1161/CIRCULATIONAHA.120.049844. Epub 2021 Apr 30. Circulation. 2021. PMID: 33928785 Free PMC article.
30 results