Wang K - Search Results

1

Clinical Phenotypic Spectrum of 4095 Individuals with Down Syndrome from Text Mining of Electronic Health Records.

Havrilla JM, Zhao M, Liu C, Weng C, Helbig I, Bhoj E, Wang K. Havrilla JM, et al. Among authors: wang k. Genes (Basel). 2021 Jul 28;12(8):1159. doi: 10.3390/genes12081159. Genes (Basel). 2021. PMID: 34440331 Free PMC article.

2

Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.

He KY, Zhao Y, McPherson EW, Li Q, Xia F, Weng C, Wang K, He MM. He KY, et al. Among authors: wang k. PLoS One. 2016 Dec 8;11(12):e0167847. doi: 10.1371/journal.pone.0167847. eCollection 2016. PLoS One. 2016. PMID: 27930734 Free PMC article.

3

Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes.

Son JH, Xie G, Yuan C, Ena L, Li Z, Goldstein A, Huang L, Wang L, Shen F, Liu H, Mehl K, Groopman EE, Marasa M, Kiryluk K, Gharavi AG, Chung WK, Hripcsak G, Friedman C, Weng C, Wang K. Son JH, et al. Among authors: wang l, wang k. Am J Hum Genet. 2018 Jul 5;103(1):58-73. doi: 10.1016/j.ajhg.2018.05.010. Epub 2018 Jun 28. Am J Hum Genet. 2018. PMID: 29961570 Free PMC article.

4

Doc2Hpo: a web application for efficient and accurate HPO concept curation.

Liu C, Peres Kury FS, Li Z, Ta C, Wang K, Weng C. Liu C, et al. Among authors: wang k. Nucleic Acids Res. 2019 Jul 2;47(W1):W566-W570. doi: 10.1093/nar/gkz386. Nucleic Acids Res. 2019. PMID: 31106327 Free PMC article.

5

Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.

Cheng H, Capponi S, Wakeling E, Marchi E, Li Q, Zhao M, Weng C, Stefan PG, Ahlfors H, Kleyner R, Rope A, Lumaka A, Lukusa P, Devriendt K, Vermeesch J, Posey JE, Palmer EE, Murray L, Leon E, Diaz J, Worgan L, Mallawaarachchi A, Vogt J, de Munnik SA, Dreyer L, Baynam G, Ewans L, Stark Z, Lunke S, Gonçalves AR, Soares G, Oliveira J, Fassi E, Willing M, Waugh JL, Faivre L, Riviere JB, Moutton S, Mohammed S, Payne K, Walsh L, Begtrup A, Guillen Sacoto MJ, Douglas G, Alexander N, Buckley MF, Mark PR, Adès LC, Sandaradura SA, Lupski JR, Roscioli T, Agrawal PB, Kline AD; Deciphering Developmental Disorders Study; Wang K, Timmers HTM, Lyon GJ. Cheng H, et al. Among authors: wang k. Hum Mutat. 2019 Oct 23:10.1002/humu.23936. doi: 10.1002/humu.23936. Online ahead of print. Hum Mutat. 2019. PMID: 31646703 Free PMC article.

6

Natural language processing (NLP) tools in extracting biomedical concepts from research articles: a case study on autism spectrum disorder.

Peng J, Zhao M, Havrilla J, Liu C, Weng C, Guthrie W, Schultz R, Wang K, Zhou Y. Peng J, et al. Among authors: wang k. BMC Med Inform Decis Mak. 2020 Dec 30;20(Suppl 11):322. doi: 10.1186/s12911-020-01352-2. BMC Med Inform Decis Mak. 2020. PMID: 33380331 Free PMC article.

7

Development of a phenotype ontology for autism spectrum disorder by natural language processing on electronic health records.

Zhao M, Havrilla J, Peng J, Drye M, Fecher M, Guthrie W, Tunc B, Schultz R, Wang K, Zhou Y. Zhao M, et al. Among authors: wang k. J Neurodev Disord. 2022 May 23;14(1):32. doi: 10.1186/s11689-022-09442-0. J Neurodev Disord. 2022. PMID: 35606697 Free PMC article.

8

PheNominal: an EHR-integrated web application for structured deep phenotyping at the point of care.

Havrilla JM, Singaravelu A, Driscoll DM, Minkovsky L, Helbig I, Medne L, Wang K, Krantz I, Desai BR. Havrilla JM, et al. Among authors: wang k. BMC Med Inform Decis Mak. 2022 Jul 28;22(Suppl 2):198. doi: 10.1186/s12911-022-01927-1. BMC Med Inform Decis Mak. 2022. PMID: 35902925 Free PMC article.

9

OARD: Open annotations for rare diseases and their phenotypes based on real-world data.

Liu C, Ta CN, Havrilla JM, Nestor JG, Spotnitz ME, Geneslaw AS, Hu Y, Chung WK, Wang K, Weng C. Liu C, et al. Among authors: wang k. Am J Hum Genet. 2022 Sep 1;109(9):1591-1604. doi: 10.1016/j.ajhg.2022.08.002. Epub 2022 Aug 22. Am J Hum Genet. 2022. PMID: 35998640 Free PMC article.

10

Integrated analysis on transcriptome and behaviors defines HTT repeat-dependent network modules in Huntington's disease.

Huang L, Fang L, Liu Q, Torshizi AD, Wang K. Huang L, et al. Among authors: wang k. Genes Dis. 2021 Jun 9;9(2):479-493. doi: 10.1016/j.gendis.2021.05.004. eCollection 2022 Mar. Genes Dis. 2021. PMID: 35224162 Free PMC article.

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