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RNF213 variants in a child with PHACE syndrome and moyamoya vasculopathy.
Schilter KF, Steiner JE, Demos W, Maheshwari M, Prokop JW, Worthey E, Drolet BA, Siegel DH. Schilter KF, et al. Among authors: prokop jw. Am J Med Genet A. 2017 Sep;173(9):2557-2561. doi: 10.1002/ajmg.a.38258. Epub 2017 Jul 7. Am J Med Genet A. 2017. PMID: 28686325 Free PMC article.
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.
Hiatt SM, Thompson ML, Prokop JW, Lawlor JMJ, Gray DE, Bebin EM, Rinne T, Kempers M, Pfundt R, van Bon BW, Mignot C, Nava C, Depienne C, Kalsner L, Rauch A, Joset P, Bachmann-Gagescu R, Wentzensen IM, McWalter K, Cooper GM. Hiatt SM, et al. Among authors: prokop jw. Am J Hum Genet. 2019 Apr 4;104(4):701-708. doi: 10.1016/j.ajhg.2019.02.002. Epub 2019 Mar 14. Am J Hum Genet. 2019. PMID: 30879638 Free PMC article.
Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndrome.
VanSickle EA, Michael J, Bachmann AS, Rajasekaran S, Prokop JW, Kuzniecky R, Hofstede FC, Steindl K, Rauch A, Lipson MH, Bupp CP. VanSickle EA, et al. Among authors: prokop jw. Am J Med Genet A. 2021 Nov;185(11):3485-3493. doi: 10.1002/ajmg.a.62473. Epub 2021 Sep 3. Am J Med Genet A. 2021. PMID: 34477286 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.
NAA10 variant in 38-week-gestation male patient: a case study.
Afrin A, Prokop JW, Underwood A, Uhl KL, VanSickle EA, Baruwal R, Wajda M, Rajasekaran S, Bupp C. Afrin A, et al. Among authors: prokop jw. Cold Spring Harb Mol Case Stud. 2020 Dec 17;6(6):a005868. doi: 10.1101/mcs.a005868. Print 2020 Dec. Cold Spring Harb Mol Case Stud. 2020. PMID: 33335012 Free PMC article.
Characterization of Coding/Noncoding Variants for SHROOM3 in Patients with CKD.
Prokop JW, Yeo NC, Ottmann C, Chhetri SB, Florus KL, Ross EJ, Sosonkina N, Link BA, Freedman BI, Coppola CJ, McDermott-Roe C, Leysen S, Milroy LG, Meijer FA, Geurts AM, Rauscher FJ 3rd, Ramaker R, Flister MJ, Jacob HJ, Mendenhall EM, Lazar J. Prokop JW, et al. J Am Soc Nephrol. 2018 May;29(5):1525-1535. doi: 10.1681/ASN.2017080856. Epub 2018 Feb 23. J Am Soc Nephrol. 2018. PMID: 29476007 Free PMC article.
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