Yu H - Search Results

1

Linking newborn severe combined immunodeficiency screening with targeted exome sequencing: A case report.

Patel DR, Yu H, Wong LC, Lupski JR, Seeborg FO, Rider NL, Martinez CA, Orange JS, Hanson C. Patel DR, et al. Among authors: yu h. J Allergy Clin Immunol Pract. 2017 Sep-Oct;5(5):1442-1444. doi: 10.1016/j.jaip.2017.03.004. Epub 2017 Apr 21. J Allergy Clin Immunol Pract. 2017. PMID: 28438538 No abstract available.

2

Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.

Yu H, Zhang VW, Stray-Pedersen A, Hanson IC, Forbes LR, de la Morena MT, Chinn IK, Gorman E, Mendelsohn NJ, Pozos T, Wiszniewski W, Nicholas SK, Yates AB, Moore LE, Berge KE, Sorte H, Bayer DK, ALZahrani D, Geha RS, Feng Y, Wang G, Orange JS, Lupski JR, Wang J, Wong LJ. Yu H, et al. J Allergy Clin Immunol. 2016 Oct;138(4):1142-1151.e2. doi: 10.1016/j.jaci.2016.05.035. Epub 2016 Jul 12. J Allergy Clin Immunol. 2016. PMID: 27484032

3

Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing.

Qin L, Wang J, Tian X, Yu H, Truong C, Mitchell JJ, Wierenga KJ, Craigen WJ, Zhang VW, Wong LC. Qin L, et al. Among authors: yu h. J Mol Diagn. 2016 May;18(3):446-453. doi: 10.1016/j.jmoldx.2016.01.002. Epub 2016 Mar 2. J Mol Diagn. 2016. PMID: 26944031 Free article.

4

Detection of a novel intragenic rearrangement in the creatine transporter gene by next generation sequencing.

Yu H, van Karnebeek C, Sinclair G, Hill A, Cui H, Zhang VW, Wong LJ. Yu H, et al. Mol Genet Metab. 2013 Dec;110(4):465-71. doi: 10.1016/j.ymgme.2013.09.018. Epub 2013 Oct 4. Mol Genet Metab. 2013. PMID: 24140398

5

Precision Medicine for Continuing Phenotype Expansion of Human Genetic Diseases.

Yu H, Zhang VW. Yu H, et al. Biomed Res Int. 2015;2015:745043. doi: 10.1155/2015/745043. Epub 2015 Jun 7. Biomed Res Int. 2015. PMID: 26137492 Free PMC article. Review.

6

Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types.

Wang J, Yu H, Zhang VW, Tian X, Feng Y, Wang G, Gorman E, Wang H, Lutz RE, Schmitt ES, Peacock S, Wong LJ. Wang J, et al. Among authors: yu h. Genet Med. 2016 May;18(5):513-21. doi: 10.1038/gim.2015.121. Epub 2015 Sep 24. Genet Med. 2016. PMID: 26402642 Free article.

7

Evaluation of gene therapy for citrullinaemia using murine and bovine models.

Patejunas G, Lee B, Dennis JA, Healy PJ, Reeds PJ, Yu H, Frazer M, Mull B, Warman AW, Beaudet AL, O'Brien WE. Patejunas G, et al. Among authors: yu h. J Inherit Metab Dis. 1998;21 Suppl 1:138-50. doi: 10.1023/a:1005322010854. J Inherit Metab Dis. 1998. PMID: 9686351

8

Catabolism dominates the first-pass intestinal metabolism of dietary essential amino acids in milk protein-fed piglets.

Stoll B, Henry J, Reeds PJ, Yu H, Jahoor F, Burrin DG. Stoll B, et al. Among authors: yu h. J Nutr. 1998 Mar;128(3):606-14. doi: 10.1093/jn/128.3.606. J Nutr. 1998. PMID: 9482771

9

Dietary amino acids are the preferential source of hepatic protein synthesis in piglets.

Stoll B, Burrin DG, Henry J, Yu H, Jahoor F, Reeds PJ. Stoll B, et al. Among authors: yu h. J Nutr. 1998 Sep;128(9):1517-24. doi: 10.1093/jn/128.9.1517. J Nutr. 1998. PMID: 9732313

10

Ablation of steroid receptor coactivator-3 resembles the human CACT metabolic myopathy.

York B, Reineke EL, Sagen JV, Nikolai BC, Zhou S, Louet JF, Chopra AR, Chen X, Reed G, Noebels J, Adesina AM, Yu H, Wong LJ, Tsimelzon A, Hilsenbeck S, Stevens RD, Wenner BR, Ilkayeva O, Xu J, Newgard CB, O'Malley BW. York B, et al. Among authors: yu h. Cell Metab. 2012 May 2;15(5):752-63. doi: 10.1016/j.cmet.2012.03.020. Cell Metab. 2012. PMID: 22560224 Free PMC article.

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