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Phen2Gene: rapid phenotype-driven gene prioritization for rare diseases.
Zhao M, Havrilla JM, Fang L, Chen Y, Peng J, Liu C, Wu C, Sarmady M, Botas P, Isla J, Lyon GJ, Weng C, Wang K. Zhao M, et al. Among authors: weng c. NAR Genom Bioinform. 2020 Jun;2(2):lqaa032. doi: 10.1093/nargab/lqaa032. Epub 2020 May 25. NAR Genom Bioinform. 2020. PMID: 32500119 Free PMC article.
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: weng c. 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.
DQueST: dynamic questionnaire for search of clinical trials.
Liu C, Yuan C, Butler AM, Carvajal RD, Li ZR, Ta CN, Weng C. Liu C, et al. Among authors: weng c. J Am Med Inform Assoc. 2019 Nov 1;26(11):1333-1343. doi: 10.1093/jamia/ocz121. J Am Med Inform Assoc. 2019. PMID: 31390010 Free PMC article.
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: weng c. 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.
The COVID-19 Trial Finder.
Sun Y, Butler A, Lin F, Liu H, Stewart LA, Kim JH, Idnay BRS, Ge Q, Wei X, Liu C, Yuan C, Weng C. Sun Y, et al. Among authors: weng c. J Am Med Inform Assoc. 2021 Mar 1;28(3):616-621. doi: 10.1093/jamia/ocaa304. J Am Med Inform Assoc. 2021. PMID: 33216120 Free PMC article.
2,219 results