Turner TN - Search Results

1

Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome.

Tayebi N, Leon-Ricardo B, McCall K, Mehinovic E, Engelstad K, Huynh V, Turner TN, Weisenberg J, Thio LL, Hruz P, Williams RSB, De Vivo DC, Petit V, Haller G, Gurnett CA. Tayebi N, et al. Among authors: turner tn. Ann Clin Transl Neurol. 2023 May;10(5):787-801. doi: 10.1002/acn3.51767. Epub 2023 Mar 31. Ann Clin Transl Neurol. 2023. PMID: 37000947 Free PMC article.

2

Acorn: an R package for de novo variant analysis.

Turner TN. Turner TN. BMC Bioinformatics. 2023 Sep 2;24(1):330. doi: 10.1186/s12859-023-05457-z. BMC Bioinformatics. 2023. PMID: 37660114 Free PMC article.

3

Neurofibromatosis-1 Gene Mutational Profiles Differ Between Syndromic Disease and Sporadic Cancers.

Bewley AF, Akinwe TM, Turner TN, Gutmann DH. Bewley AF, et al. Among authors: turner tn. Neurol Genet. 2022 Jun 27;8(4):e200003. doi: 10.1212/NXG.0000000000200003. eCollection 2022 Aug. Neurol Genet. 2022. PMID: 37435433 Free PMC article.

4

HAT: de novo variant calling for highly accurate short-read and long-read sequencing data.

Ng JK, Turner TN. Ng JK, et al. Among authors: turner tn. Bioinformatics. 2024 Jan 2;40(1):btad775. doi: 10.1093/bioinformatics/btad775. Bioinformatics. 2024. PMID: 38175776 Free PMC article.

5

A common single nucleotide variant in the cytokine receptor-like factor-3 (CRLF3) gene causes neuronal deficits in human and mouse cells.

Wilson AF, Barakat R, Mu R, Karush LL, Gao Y, Hartigan KA, Chen JK, Shu H, Turner TN, Maloney SE, Mennerick SJ, Gutmann DH, Anastasaki C. Wilson AF, et al. Among authors: turner tn. Hum Mol Genet. 2023 Dec 1;32(24):3342-3352. doi: 10.1093/hmg/ddad155. Hum Mol Genet. 2023. PMID: 37712888

6

Examining Sex Differences in Autism Heritability.

Sandin S, Yip BHK, Yin W, Weiss LA, Dougherty JD, Fass S, Constantino JN, Hailin Z, Turner TN, Marrus N, Gutmann DH, Sanders SJ, Christoffersson B. Sandin S, et al. Among authors: turner tn. JAMA Psychiatry. 2024 Apr 17:e240525. doi: 10.1001/jamapsychiatry.2024.0525. Online ahead of print. JAMA Psychiatry. 2024. PMID: 38630491 Free PMC article.

7

Participatory community action research in homeless shelters: Outcomes for shelter residents and service-learning research assistants.

Reeb RN, Elvers G, Hunt CA, Turner TN, Ballas TN, Farmer CN, Gibbins K, Glendening ZS, Kinsey R, Latuch BD, Parker CN, Snow-Hill NL, Zicka JL, Bohardt D, Andrews R. Reeb RN, et al. Among authors: turner tn. J Prev Interv Community. 2024 Mar 12:1-25. doi: 10.1080/10852352.2024.2317671. Online ahead of print. J Prev Interv Community. 2024. PMID: 38470612

8

CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods.

Critical Assessment of Genome Interpretation Consortium. Critical Assessment of Genome Interpretation Consortium. Genome Biol. 2024 Feb 22;25(1):53. doi: 10.1186/s13059-023-03113-6. Genome Biol. 2024. PMID: 38389099 Free PMC article.

9

Building Resilience through Intervention, Direct Guidance, and Empowerment (BRIDGE): A demonstration project to assist youth aging out of foster care in Poland.

Toro PA, Turner TN, Szarzyńska ME. Toro PA, et al. Among authors: turner tn. J Prev Interv Community. 2024 Feb 22:1-24. doi: 10.1080/10852352.2024.2317662. Online ahead of print. J Prev Interv Community. 2024. PMID: 38385309

10

Proteome-Wide Assessment of Clustering of Missense Variants in Neurodevelopmental Disorders Versus Cancer.

Ng JK, Chen Y, Akinwe TM, Heins HB, Mehinovic E, Chang Y, Payne ZL, Manuel JG, Karchin R, Turner TN. Ng JK, et al. Among authors: turner tn. medRxiv [Preprint]. 2024 Feb 4:2024.02.02.24302238. doi: 10.1101/2024.02.02.24302238. medRxiv. 2024. PMID: 38352539 Free PMC article. Preprint.

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