Li D - Search Results

1

Treatment of severe Kaposiform lymphangiomatosis positive for NRAS mutation by MEK inhibition.

Chowers G, Abebe-Campino G, Golan H, Vivante A, Greenberger S, Soudack M, Barkai G, Fox-Fisher I, Li D, March M, Battig MR, Hakonarson H, Adams D, Dori Y, Dagan A. Chowers G, et al. Among authors: li d. Pediatr Res. 2023 Dec;94(6):1911-1915. doi: 10.1038/s41390-022-01986-0. Epub 2022 Mar 4. Pediatr Res. 2023. PMID: 35246606 Free PMC article.

2

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.

3

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.

4

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

5

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.

6

Chromosome 4q28.3q32.3 duplication in a patient with lymphatic malformations, craniosynostosis, and dysmorphic features.

Traub ES, Sheppard SE, Dori Y, Burns KD, Zackai EH, Ware SM, Landis BJ, Li D, Weaver DD. Traub ES, et al. Among authors: li d. Clin Dysmorphol. 2021 Apr 1;30(2):89-92. doi: 10.1097/MCD.0000000000000347. Clin Dysmorphol. 2021. PMID: 32925199 Free PMC article.

7

Non-coding structural variation differentially impacts attention-deficit hyperactivity disorder (ADHD) gene networks in African American vs Caucasian children.

Liu Y, Chang X, Qu H, Glessner J, Tian L, Li D, Qiu H, Sleiman PMA, Hakonarson H. Liu Y, et al. Among authors: li d. Sci Rep. 2020 Sep 17;10(1):15252. doi: 10.1038/s41598-020-71307-0. Sci Rep. 2020. PMID: 32943653 Free PMC article.

8

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.

9

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.

10

Rare Recurrent Variants in Noncoding Regions Impact Attention-Deficit Hyperactivity Disorder (ADHD) Gene Networks in Children of both African American and European American Ancestry.

Liu Y, Chang X, Qu HQ, Tian L, Glessner J, Qu J, Li D, Qiu H, Sleiman P, Hakonarson H. Liu Y, et al. Among authors: li d. Genes (Basel). 2021 Feb 22;12(2):310. doi: 10.3390/genes12020310. Genes (Basel). 2021. PMID: 33671795 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

52,097 results

Search Page

Filters