Li D - Search Results

1

Enhanced B Cell Alloantigen Presentation and Its Epigenetic Dysregulation in Liver Transplant Rejection.

Ningappa M, Ashokkumar C, Higgs BW, Sun Q, Jaffe R, Mazariegos G, Li D, Weeks DE, Subramaniam S, Ferrell R, Hakonarson H, Sindhi R. Ningappa M, et al. Among authors: li d. Am J Transplant. 2016 Feb;16(2):497-508. doi: 10.1111/ajt.13509. Epub 2015 Dec 11. Am J Transplant. 2016. PMID: 26663361 Free PMC article.

2

A novel dominant COL11A1 mutation in a child with Stickler syndrome type II is associated with recurrent fractures.

Vogiatzi MG, Li D, Tian L, Garifallou JP, Kim CE, Hakonarson H, Levine MA. Vogiatzi MG, et al. Among authors: li d. Osteoporos Int. 2018 Jan;29(1):247-251. doi: 10.1007/s00198-017-4229-3. Epub 2017 Oct 3. Osteoporos Int. 2018. PMID: 28971234

3

Association of Rare Recurrent Copy Number Variants With Congenital Heart Defects Based on Next-Generation Sequencing Data From Family Trios.

Liu Y, Chang X, Glessner J, Qu H, Tian L, Li D, Nguyen K, Sleiman PMA, Hakonarson H. Liu Y, et al. Among authors: li d. Front Genet. 2019 Sep 10;10:819. doi: 10.3389/fgene.2019.00819. eCollection 2019. Front Genet. 2019. PMID: 31552105 Free PMC article.

4

Intragenic Deletions of GNAS in Pseudohypoparathyroidism Type 1A Identify a New Region Affecting Methylation of Exon A/B.

Li D, Bupp C, March ME, Hakonarson H, Levine MA. Li D, et al. J Clin Endocrinol Metab. 2020 Sep 1;105(9):e3197-206. doi: 10.1210/clinem/dgaa286. J Clin Endocrinol Metab. 2020. PMID: 32436958 Free PMC article.

5

A homozygous truncating NALCN variant in two Afro-Caribbean siblings with hypotonia and dolichocephaly.

Ope O, Bhoj EJ, Nelson B, Li D, Hakonarson H, Sobering AK. Ope O, et al. Among authors: li d. Am J Med Genet A. 2020 Aug;182(8):1877-1880. doi: 10.1002/ajmg.a.61744. Epub 2020 Jul 2. Am J Med Genet A. 2020. PMID: 32618095

6

Kaposiform lymphangiomatosis effectively treated with MEK inhibition.

Foster JB, Li D, March ME, Sheppard SE, Adams DM, Hakonarson H, Dori Y. Foster JB, et al. Among authors: li d. EMBO Mol Med. 2020 Oct 7;12(10):e12324. doi: 10.15252/emmm.202012324. Epub 2020 Sep 7. EMBO Mol Med. 2020. PMID: 32894644 Free PMC article.

7

Biliary-Atresia-Associated Mannosidase-1-Alpha-2 Gene Regulates Biliary and Ciliary Morphogenesis and Laterality.

So J, Ningappa M, Glessner J, Min J, Ashokkumar C, Ranganathan S, Higgs BW, Li D, Sun Q, Schmitt L, Biery AC, Dobrowolski S, Trautz C, Fuhrman L, Schwartz MC, Klena NT, Fusco J, Prasadan K, Adenuga M, Mohamed N, Yan Q, Chen W, Horne W, Dhawan A, Sharif K, Kelly D, Squires RH, Gittes GK, Hakonarson H, Morell V, Lo C, Subramaniam S, Shin D, Sindhi R. So J, et al. Among authors: li d. Front Physiol. 2020 Oct 30;11:538701. doi: 10.3389/fphys.2020.538701. eCollection 2020. Front Physiol. 2020. PMID: 33192543 Free PMC article.

8

Ciliopathies: Coloring outside of the lines.

Strong A, Li D, Mentch F, Bedoukian E, Hartung EA, Meyers K, Skraban C, Wen J, Medne L, Glessner J, Watson D, Krantz I, Hakonarson H. Strong A, et al. Among authors: li d. Am J Med Genet A. 2021 Mar;185(3):687-694. doi: 10.1002/ajmg.a.62013. Epub 2020 Dec 25. Am J Med Genet A. 2021. PMID: 33369054 Free PMC article.

9

Expanded phenotypic spectrum of JAG1-associated diseases: Central conducting lymphatic anomaly with a pathogenic variant in JAG1.

Li D, Sheppard SE, Peroutka C, Barnes C, Reid JR, Smith CL, Dori Y, Hakonarson H. Li D, et al. Clin Genet. 2021 May;99(5):742-743. doi: 10.1111/cge.13915. Epub 2021 Jan 12. Clin Genet. 2021. PMID: 33433009 Free PMC article.

10

A novel heterotaxy gene: Expansion of the phenotype of TTC21B-spectrum disease.

Strong A, Li D, Mentch F, Hakonarson H. Strong A, et al. Among authors: li d. Am J Med Genet A. 2021 Apr;185(4):1266-1269. doi: 10.1002/ajmg.a.62093. Epub 2021 Feb 5. Am J Med Genet A. 2021. PMID: 33547761 Free PMC article.

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