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Molecular Genetics & Genomic Medicine

Each article is made available under the terms of the Creative Commons Attribution License

Cover image for Vol. 5 Issue 5

Editors: Maximilian Muenke, M.D., Suzanne Hart, Ph.D

Online ISSN: 2324-9269

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New video highlight created by Margot A. Cousin on her recently published Molecular Genetics and Genomic Medicine paper entitled, "Pharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients."

Recently Published Articles

  1. You have full text access to this OnlineOpen article
    The maternal uniparental disomy of chromosome 6 (upd(6)mat) “phenotype”: result of placental trisomy 6 mosaicism?

    Thomas Eggermann, Barbara Oehl-Jaschkowitz, Severin Dicks, Wolfgang Thomas, Deniz Kanber, Beate Albrecht, Matthias Begemann, Ingo Kurth, Jasmin Beygo and Karin Buiting

    Version of Record online: 22 SEP 2017 | DOI: 10.1002/mgg3.324

    Thumbnail image of graphical abstract

    Maternal uniparental disomy of chromosome 6 (upd(6)mat) is a rare finding, and its clinical relevance is currently unclear. We report on two new cases and delineate the pathogenetic significance of upd(6)mat from these cases and those from the literature.

  2. You have full text access to this OnlineOpen article
    Targeting trisomic treatments: optimizing Dyrk1a inhibition to improve Down syndrome deficits (pages 451–465)

    Megan Stringer, Charles R. Goodlett and Randall J. Roper

    Version of Record online: 20 SEP 2017 | DOI: 10.1002/mgg3.334

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    Overexpression and elevated activity of trisomic Dyrk1a are spatially and temporally specific in mouse models of DS, but systematic evidence is lacking. Some periods of elevated Dyrk1a may represent sensitive periods of developmental vulnerability for establishing long-lasting DS structural and functional phenotypes. There is a paucity of evidence supporting the assertion that EGCG is an effective in vivo Dyrk1a inhibitor or that any beneficial effects of EGCG-containing treatments are due to the inhibition of Dyrk1a.

  3. You have full text access to this OnlineOpen article
    Role of WNT10A in failure of tooth development in humans and zebrafish

    Qiuping Yuan, Min Zhao, Bhavna Tandon, Lorena Maili, Xiaoming Liu, Anqi Zhang, Evan H. Baugh, Tam Tran, Renato M. Silva, Jacqueline T. Hecht, Eric C. Swindell, Daniel S. Wagner and Ariadne Letra

    Version of Record online: 14 SEP 2017 | DOI: 10.1002/mgg3.332

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    Our results reveal a novel compound heterozygous variant in WNT10A as pathogenic for oligodontia, and demonstrate that perturbations of wnt10a expression in zebrafish may directly and/or indirectly affect tooth development recapitulating the agenesis phenotype observed in humans.

  4. You have full text access to this OnlineOpen article
    Military genomics: a perspective on the successes and challenges of genomic medicine in the Armed Services

    Mauricio J. De Castro and Clesson E. Turner

    Version of Record online: 14 SEP 2017 | DOI: 10.1002/mgg3.335

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    We describe the impact genomics has on the health and readiness of the military service member, highlight several examples of the current and future plans for genomic medicine within the military, discuss challenges to implementation and provide recommendations to address some of those challenges.

  5. You have full text access to this OnlineOpen article
    Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria

    Ramanath Majumdar, Andrew Yori, Peggy W. Rush, Kimiyo Raymond, Dimitar Gavrilov, Silvia Tortorelli, Dietrich Matern, Piero Rinaldo, Gerald L. Feldman and Devin Oglesbee

    Version of Record online: 11 SEP 2017 | DOI: 10.1002/mgg3.333

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    Our study of 20 individuals with formiminoglutamic aciduria identified new variants in the FTCD gene that contributed to this genetic condition. This study expands the number of FTCD variants that leads to increased excretion of formiminoglutamic aciduria.