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Page 1
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
Snijders Blok L, Hiatt SM, Bowling KM, Prokop JW, Engel KL, Cochran JN, Bebin EM, Bijlsma EK, Ruivenkamp CAL, Terhal P, Simon MEH, Smith R, Hurst JA; DDD study; McLaughlin H, Person R, Crunk A, Wangler MF, Streff H, Symonds JD, Zuberi SM, Elliott KS, Sanders VR, Masunga A, Hopkin RJ, Dubbs HA, Ortiz-Gonzalez XR, Pfundt R, Brunner HG, Fisher SE, Kleefstra T, Cooper GM. Snijders Blok L, et al. Hum Genet. 2018 May;137(5):375-388. doi: 10.1007/s00439-018-1887-y. Epub 2018 May 8. Hum Genet. 2018. PMID: 29740699 Free PMC article.
Computational and Experimental Analysis of Genetic Variants.
Prokop JW, Jdanov V, Savage L, Morris M, Lamb N, VanSickle E, Stenger CL, Rajasekaran S, Bupp CP. Prokop JW, et al. Compr Physiol. 2022 Mar 29;12(2):3303-3336. doi: 10.1002/cphy.c210012. Compr Physiol. 2022. PMID: 35578967
Evolutionary Landscape of SOX Genes to Inform Genotype-to-Phenotype Relationships.
Underwood A, Rasicci DT, Hinds D, Mitchell JT, Zieba JK, Mills J, Arnold NE, Cook TW, Moustaqil M, Gambin Y, Sierecki E, Fontaine F, Vanderweele S, Das AS, Cvammen W, Sirpilla O, Soehnlen X, Bricker K, Alokaili M, Green M, Heeringa S, Wilstermann AM, Freeland TM, Qutob D, Milsted A, Jauch R, Triche TJ Jr, Krawczyk CM, Bupp CP, Rajasekaran S, Francois M, Prokop JW. Underwood A, et al. Genes (Basel). 2023 Jan 14;14(1):222. doi: 10.3390/genes14010222. Genes (Basel). 2023. PMID: 36672963 Free PMC article.
CCR5 and Biological Complexity: The Need for Data Integration and Educational Materials to Address Genetic/Biological Reductionism at the Interface of Ethical, Legal, and Social Implications.
Bauss J, Morris M, Shankar R, Olivero R, Buck LN, Stenger CL, Hinds D, Mills J, Eby A, Zagorski JW, Smith C, Cline S, Hartog NL, Chen B, Huss J, Carcillo JA, Rajasekaran S, Bupp CP, Prokop JW. Bauss J, et al. Front Immunol. 2021 Dec 2;12:790041. doi: 10.3389/fimmu.2021.790041. eCollection 2021. Front Immunol. 2021. PMID: 34925370 Free PMC article.
44 results