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Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Pujol-Giménez J, Mirzaa G, Blue EE, Albano G, Miller DE, Allworth A, Bennett JT, Byers PH, Chanprasert S, Chen J, Doherty D, Folta AB, Gillentine MA, Glass I, Hing A, Horike-Pyne M, Leppig KA, Parhin A, Ranchalis J, Raskind WH, Rosenthal EA, Schwarze U, Sheppeard S, Strohbehn S, Sybert VP, Timms A, Wener M; University of Washington Center for Mendelian Genomics (UW-CMG)a, Undiagnosed Diseases Network (UDN); Bamshad MJ, Hisama FM, Jarvik GP, Dipple KM, Hediger MA, Stergachis AB. Pujol-Giménez J, et al. Among authors: leppig ka. Ann Clin Transl Neurol. 2023 Jun;10(6):1046-1053. doi: 10.1002/acn3.51786. Epub 2023 May 16. Ann Clin Transl Neurol. 2023. PMID: 37194416 Free PMC article.
Minor malformations: significant or insignificant.
Leppig KA, Werler MM, Cann CI, Cook CA, Holmes LB. Leppig KA, et al. Am J Dis Child. 1988 Dec;142(12):1274. doi: 10.1001/archpedi.1988.02150120028024. Am J Dis Child. 1988. PMID: 3195523 No abstract available.
Feasibility and Assessment of a Cascade Traceback Screening Program (FACTS): Protocol for a Multisite Study to Implement and Assess an Ovarian Cancer Traceback Cascade Testing Program.
DiNucci A, Henrikson NB, Jonas MC, Basra S, Blasi P, Brown J, Esplin ED, Hassen D, Hao J, Hu Y, Klinger T, Ladd I, Leppig K, Lewis M, Meyer M, Ney S, Ramaprasan A, Romagnoli K, Salvati Z, Scrol A, Schwiter R, Sheridan L, Somasundaram B, Suwannarat P, Wagner JK, Rahm AK. DiNucci A, et al. J Pers Med. 2021 Jun 11;11(6):543. doi: 10.3390/jpm11060543. J Pers Med. 2021. PMID: 34208188 Free PMC article.
A web-based personalized risk communication and decision-making tool for women with dense breasts: Design and methods of a randomized controlled trial within an integrated health care system.
Knerr S, Wernli KJ, Leppig K, Ehrlich K, Graham AL, Farrell D, Evans C, Luta G, Schwartz MD, O'Neill SC. Knerr S, et al. Contemp Clin Trials. 2017 May;56:25-33. doi: 10.1016/j.cct.2017.02.009. Epub 2017 Feb 28. Contemp Clin Trials. 2017. PMID: 28257920 Free PMC article. Clinical Trial.
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
Messiaen L, Yao S, Brems H, Callens T, Sathienkijkanchai A, Denayer E, Spencer E, Arn P, Babovic-Vuksanovic D, Bay C, Bobele G, Cohen BH, Escobar L, Eunpu D, Grebe T, Greenstein R, Hachen R, Irons M, Kronn D, Lemire E, Leppig K, Lim C, McDonald M, Narayanan V, Pearn A, Pedersen R, Powell B, Shapiro LR, Skidmore D, Tegay D, Thiese H, Zackai EH, Vijzelaar R, Taniguchi K, Ayada T, Okamoto F, Yoshimura A, Parret A, Korf B, Legius E. Messiaen L, et al. JAMA. 2009 Nov 18;302(19):2111-8. doi: 10.1001/jama.2009.1663. JAMA. 2009. PMID: 19920235
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