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AI-MARRVEL - A Knowledge-Driven AI System for Diagnosing Mendelian Disorders.
Mao D, Liu C, Wang L, Ai-Ouran R, Deisseroth C, Pasupuleti S, Kim SY, Li L, Rosenfeld JA, Meng L, Burrage LC, Wangler MF, Yamamoto S; Undiagnosed Diseases Network; Santana M, Perez V, Shukla P, Eng CM, Lee B, Yuan B, Xia F, Bellen HJ, Liu P, Liu Z. Mao D, et al. Among authors: deisseroth c. NEJM AI. 2024 May;1(5):10.1056/aioa2300009. doi: 10.1056/aioa2300009. Epub 2024 Apr 25. NEJM AI. 2024. PMID: 38962029 Free PMC article.
Literature-based predictions of Mendelian disease therapies.
Deisseroth CA, Lee WS, Kim J, Jeong HH, Dhindsa RS, Wang J, Zoghbi HY, Liu Z. Deisseroth CA, et al. Am J Hum Genet. 2023 Oct 5;110(10):1661-1672. doi: 10.1016/j.ajhg.2023.08.018. Epub 2023 Sep 22. Am J Hum Genet. 2023. PMID: 37741276 Free PMC article.
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis.
Deisseroth CA, Birgmeier J, Bodle EE, Kohler JN, Matalon DR, Nazarenko Y, Genetti CA, Brownstein CA, Schmitz-Abe K, Schoch K, Cope H, Signer R; Undiagnosed Diseases Network; Martinez-Agosto JA, Shashi V, Beggs AH, Wheeler MT, Bernstein JA, Bejerano G. Deisseroth CA, et al. Genet Med. 2019 Jul;21(7):1585-1593. doi: 10.1038/s41436-018-0381-1. Epub 2018 Dec 5. Genet Med. 2019. PMID: 30514889 Free PMC article.
EMPOWERING MULTI-COHORT GENE EXPRESSION ANALYSIS TO INCREASE REPRODUCIBILITY.
Haynes WA, Vallania F, Liu C, Bongen E, Tomczak A, Andres-Terrè M, Lofgren S, Tam A, Deisseroth CA, Li MD, Sweeney TE, Khatri P. Haynes WA, et al. Among authors: deisseroth ca. Pac Symp Biocomput. 2017;22:144-153. doi: 10.1142/9789813207813_0015. Pac Symp Biocomput. 2017. PMID: 27896970 Free PMC article.