Vadgama N - Search Results

1

A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities.

Jelani M, Dooley HC, Gubas A, Mohamoud HSA, Khan MTM, Ali Z, Kang C, Rahim F, Jan A, Vadgama N, Khan MI, Al-Aama JY, Khan A, Tooze SA, Nasir J. Jelani M, et al. Among authors: vadgama n. Brain. 2019 May 1;142(5):1242-1254. doi: 10.1093/brain/awz075. Brain. 2019. PMID: 30968111 Free PMC article.

2

Elevated γ-glutamyltransferase and erythrocyte sedimentation rate in ischemic stroke in discordant monozygotic twin study.

Vadgama N, Gaze D, Ranson J, Hardy J, Nasir J. Vadgama N, et al. Int J Stroke. 2015 Jun;10(4):E32-3. doi: 10.1111/ijs.12440. Int J Stroke. 2015. PMID: 25973705 No abstract available.

3

Truncating mutation in intracellular phospholipase A₁ gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54).

Alrayes N, Mohamoud HS, Jelani M, Ahmad S, Vadgama N, Bakur K, Simpson M, Al-Aama JY, Nasir J. Alrayes N, et al. Among authors: vadgama n. BMC Res Notes. 2015 Jun 27;8:271. doi: 10.1186/s13104-015-1227-4. BMC Res Notes. 2015. PMID: 26113134 Free PMC article.

4

A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features.

Mohamoud HS, Ahmed S, Jelani M, Alrayes N, Childs K, Vadgama N, Almramhi MM, Al-Aama JY, Goodbourn S, Nasir J. Mohamoud HS, et al. Among authors: vadgama n. Sci Rep. 2018 Feb 1;8(1):2053. doi: 10.1038/s41598-018-20658-w. Sci Rep. 2018. PMID: 29391579 Free PMC article.

5

Distinct proteomic profiles in monozygotic twins discordant for ischaemic stroke.

Vadgama N, Lamont D, Hardy J, Nasir J, Lovering RC. Vadgama N, et al. Mol Cell Biochem. 2019 Jun;456(1-2):157-165. doi: 10.1007/s11010-019-03501-2. Epub 2019 Jan 29. Mol Cell Biochem. 2019. PMID: 30694515

6

De novo and inherited variants in coding and regulatory regions in genetic cardiomyopathies.

Vadgama N, Ameen M, Sundaram L, Gaddam S; Genomics England Research Consortium; Gifford C, Nasir J, Karakikes I. Vadgama N, et al. Hum Genomics. 2022 Nov 10;16(1):55. doi: 10.1186/s40246-022-00420-0. Hum Genomics. 2022. PMID: 36357925 Free PMC article.

7

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.

8

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.

9

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.

10

Validation of the OAKS prognostic model for acute kidney injury after gastrointestinal surgery.

STARSurg Collaborative and EuroSurg Collaborative. STARSurg Collaborative and EuroSurg Collaborative. BJS Open. 2022 Jan 6;6(1):zrab150. doi: 10.1093/bjsopen/zrab150. BJS Open. 2022. PMID: 35179188 Free PMC article.

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