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Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding.
Mark PR, Murray SA, Yang T, Eby A, Lai A, Lu D, Zieba J, Rajasekaran S, VanSickle EA, Rossetti LZ, Guidugli L, Watkins K, Wright MS, Bupp CP, Prokop JW. Mark PR, et al. Among authors: prokop jw. Cold Spring Harb Mol Case Stud. 2022 Oct 28;8(6):a006169. doi: 10.1101/mcs.a006169. Print 2022 Oct. Cold Spring Harb Mol Case Stud. 2022. PMID: 36307211 Free PMC article.
Virus-induced genetics revealed by multidimensional precision medicine transcriptional workflow applicable to COVID-19.
Prokop JW, Shankar R, Gupta R, Leimanis ML, Nedveck D, Uhl K, Chen B, Hartog NL, Van Veen J, Sisco JS, Sirpilla O, Lydic T, Boville B, Hernandez A, Braunreiter C, Kuk CC, Singh V, Mills J, Wegener M, Adams M, Rhodes M, Bachmann AS, Pan W, Byrne-Steele ML, Smith DC, Depinet M, Brown BE, Eisenhower M, Han J, Haw M, Madura C, Sanfilippo DJ, Seaver LH, Bupp C, Rajasekaran S. Prokop JW, et al. Physiol Genomics. 2020 Jun 1;52(6):255-268. doi: 10.1152/physiolgenomics.00045.2020. Epub 2020 May 21. Physiol Genomics. 2020. PMID: 32437232 Free PMC article.
SARS-CoV-2 (COVID-19) structural and evolutionary dynamicome: Insights into functional evolution and human genomics.
Gupta R, Charron J, Stenger CL, Painter J, Steward H, Cook TW, Faber W, Frisch A, Lind E, Bauss J, Li X, Sirpilla O, Soehnlen X, Underwood A, Hinds D, Morris M, Lamb N, Carcillo JA, Bupp C, Uhal BD, Rajasekaran S, Prokop JW. Gupta R, et al. Among authors: prokop jw. J Biol Chem. 2020 Aug 14;295(33):11742-11753. doi: 10.1074/jbc.RA120.014873. Epub 2020 Jun 25. J Biol Chem. 2020. PMID: 32587094 Free PMC article.
SLC6A1 G443D associated with developmental delay and epilepsy.
Devries S, Mulder M, Charron JG, Prokop JW, Mark PR. Devries S, et al. Among authors: prokop jw. Cold Spring Harb Mol Case Stud. 2020 Aug 25;6(4):a005371. doi: 10.1101/mcs.a005371. Print 2020 Aug. Cold Spring Harb Mol Case Stud. 2020. PMID: 32660967 Free PMC article.
Genomic, transcriptomic, and protein landscape profile of CFTR and cystic fibrosis.
Sanders M, Lawlor JMJ, Li X, Schuen JN, Millard SL, Zhang X, Buck L, Grysko B, Uhl KL, Hinds D, Stenger CL, Morris M, Lamb N, Levy H, Bupp C, Prokop JW. Sanders M, et al. Among authors: prokop jw. Hum Genet. 2021 Mar;140(3):423-439. doi: 10.1007/s00439-020-02211-w. Epub 2020 Jul 30. Hum Genet. 2021. PMID: 32734384 Free PMC article.
Gene expression signatures identify paediatric patients with multiple organ dysfunction who require advanced life support in the intensive care unit.
Shankar R, Leimanis ML, Newbury PA, Liu K, Xing J, Nedveck D, Kort EJ, Prokop JW, Zhou G, Bachmann AS, Chen B, Rajasekaran S. Shankar R, et al. Among authors: prokop jw. EBioMedicine. 2020 Dec;62:103122. doi: 10.1016/j.ebiom.2020.103122. Epub 2020 Nov 25. EBioMedicine. 2020. PMID: 33248372 Free PMC article.
95 results