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Page 1
Literature-based predictions of Mendelian disease therapies.
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.
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.
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Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization.
Jagadeesh KA, Birgmeier J, Guturu H, Deisseroth CA, Wenger AM, Bernstein JA, Bejerano G.
Jagadeesh KA, et al. Among authors: deisseroth ca.
Genet Med. 2019 Feb;21(2):464-470. doi: 10.1038/s41436-018-0072-y. Epub 2018 Jul 12.
Genet Med. 2019.
PMID: 29997393
Free article.
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AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literature.
Birgmeier J, Deisseroth CA, Hayward LE, Galhardo LMT, Tierno AP, Jagadeesh KA, Stenson PD, Cooper DN, Bernstein JA, Haeussler M, Bejerano G.
Birgmeier J, et al. Among authors: deisseroth ca.
Genet Med. 2020 Feb;22(2):362-370. doi: 10.1038/s41436-019-0643-6. Epub 2019 Aug 30.
Genet Med. 2020.
PMID: 31467448
Free PMC article.
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An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain.
Deisseroth CA, Lerma VC, Magyar CL, Pfliger JM, Nayak A, Bliss ND, LeMaire AW, Narayanan V, Balak C, Zanni G, Valente EM, Bertini E, Benke PJ, Wangler MF, Chao HT.
Deisseroth CA, et al.
Ann Neurol. 2022 Jul;92(1):138-153. doi: 10.1002/ana.26359. Epub 2022 Apr 16.
Ann Neurol. 2022.
PMID: 35340043
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AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature.
Birgmeier J, Haeussler M, Deisseroth CA, Steinberg EH, Jagadeesh KA, Ratner AJ, Guturu H, Wenger AM, Diekhans ME, Stenson PD, Cooper DN, Ré C, Beggs AH, Bernstein JA, Bejerano G.
Birgmeier J, et al. Among authors: deisseroth ca.
Sci Transl Med. 2020 May 20;12(544):eaau9113. doi: 10.1126/scitranslmed.aau9113.
Sci Transl Med. 2020.
PMID: 32434849
Free PMC article.
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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.
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