Molecular Genetics & Genomic Medicine

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

Cover image for Vol. 4 Issue 4

Editor-in-Chief: Maximilian Muenke, M.D., Deputy Editor: Suzanne Hart, Ph.D.

Online ISSN: 2324-9269

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New video highlight created by Roxana Daneshjou on her recently published Molecular Genetics and Genomic Medicine paper entitled, "Population-specific single-nucleotide polymorphism confers increased risk of venous thromboembolism in African Americans;

Recently Published Articles

  1. You have full text access to this OnlineOpen article
    ADGRL3 (LPHN3) variants are associated with a refined phenotype of ADHD in the MTA study

    Maria T. Acosta, James Swanson, Annamarie Stehli, Brooke S. G. Molina, the MTA Team, Ariel F. Martinez, Mauricio Arcos-Burgos and Maximilian Muenke

    Version of Record online: 18 JUL 2016 | DOI: 10.1002/mgg3.230

    Thumbnail image of graphical abstract

    ADGRL3 (LPHN3) variants are associated with ADHD susceptibility in cross-sectional studies and in longitudinal studies. Evidence from a large longitudinal study is present in this publication.

  2. You have full text access to this OnlineOpen article
  3. You have full text access to this OnlineOpen article
    A view on clinical genetics and genomics in Spain: of challenges and opportunities (pages 376–391)

    Teresa Pàmpols, Feliciano J. Ramos, Pablo Lapunzina, Ignasi Gozalo-Salellas, Luis A. Pérez-Jurado and Aurora Pujol

    Version of Record online: 18 JUL 2016 | DOI: 10.1002/mgg3.232

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    A view on clinical genetics and genomics in Spain: of challenges and opportunities.

  4. You have full text access to this OnlineOpen article
    The prevalence and distribution of the amyloidogenic transthyretin (TTR) V122I allele in Africa

    Daniel R. Jacobson, Alice A. Alexander, Clement Tagoe, W. T. Garvey, Scott M. Williams, Sara Tishkoff, David Modiano, Sodiomon B. Sirima, Issa Kalidi, Amadou Toure and Joel N. Buxbaum

    Version of Record online: 14 JUL 2016 | DOI: 10.1002/mgg3.231

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    The substitution of isoleucine for valine at position 122 in the human protein transthyretin makes it subject to amyloid formation in vivo. The allele is found in 3.4 % of African Americans producing cardiac disease in many of the carriers late in life. The present study defines its prevalence across the African continent and shows the highest concentration in countries of West Africa, a small number of founders, and no apparent selective advantage or disadvantage in reaching adulthood.

  5. You have full text access to this OnlineOpen article
    A novel de novo TBX5 mutation in a patient with Holt–Oram syndrome leading to a dramatically reduced biological function

    Martina Dreßen, Harald Lahm, Armin Lahm, Klaudia Wolf, Stefanie Doppler, Marcus-André Deutsch, Julie Cleuziou, Jelena Pabst von Ohain, Patric Schön, Peter Ewert, Ivan Malcic, Rüdiger Lange and Markus Krane

    Version of Record online: 14 JUL 2016 | DOI: 10.1002/mgg3.234

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    We have identified a so far unpublished TBX5 mutation which occurs de novo in the patient diagnosed for HOS with healthy parents. The mutation is located in a highly conserved region of TBX5 and is predicted to be damaging. Functional experiments confirmed a dramatically reduced biological activity of the mutated TBX5 protein.

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