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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. 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.
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: zhao m. 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.
REEV: review, evaluate and explain variants.
Hramyka D, Sczakiel HL, Zhao MX, Stolpe O, Nieminen M, Adam R, Danyel M, Einicke L, Hägerling R, Knaus A, Mundlos S, Schwartzmann S, Seelow D, Ehmke N, Mensah MA, Boschann F, Beule D, Holtgrewe M. Hramyka D, et al. Among authors: zhao mx. Nucleic Acids Res. 2024 May 20:gkae366. doi: 10.1093/nar/gkae366. Online ahead of print. Nucleic Acids Res. 2024. PMID: 38769069
REME: an integrated platform for reaction enzyme mining and evaluation.
Shi Z, Wang D, Li Y, Deng R, Lin J, Liu C, Li H, Wang R, Zhao M, Mao Z, Yuan Q, Liao X, Ma H. Shi Z, et al. Among authors: zhao m. Nucleic Acids Res. 2024 May 20:gkae405. doi: 10.1093/nar/gkae405. Online ahead of print. Nucleic Acids Res. 2024. PMID: 38769057
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