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    Review| Open Access

    Challenges in implementing genomic medicine: the 100,000 Genomes Project

    Julian G. Barwell, Rory B.G. O’Sullivan, Laura K. Mansbridge, Joanna M. Lowry, Huw R. Dorkins

    Many important medical conditions may be the result of an inherited mutation in one of a number of different genes. Technical advances have reduced the cost of whole genome sequencing and whole exome sequencing to a level where it is now feasible to analyse multiple genes in one test. Every human... Read more

    This article belongs to the Special Issue Personalized genomic medicine: challenges and opportunities for the diagnosis and the treatment of human disease J Transl Genet Genom 2018;2:13. | doi:10.20517/jtgg.2018.17
    Published on: 11 Sep 2018  | Viewed:836  | Downloaded:50
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    Original Article| Open Access

    Which came first: validity or clinical testing? The example of long QT genes

    Lacey Boshe, A. Katherine M. Foreman, Jennifer L. Goldstein, Natasha T. Strande, Jonathan S. Berg, Julianne M. O’Daniel

    Aim: To investigate the potential relationship between the strength of evidence for a gene-disease association and inclusion of the gene on a targeted, indication-based gene panel test for hereditary long QT syndrome (LQTS) and to explore factors that may influence laboratory decisions about the... Read more

    This article belongs to the Special Issue Personalized genomic medicine: challenges and opportunities for the diagnosis and the treatment of human disease J Transl Genet Genom 2018;2:12. | doi:10.20517/jtgg.2018.18
    Published on: 30 Aug 2018  | Viewed:180  | Downloaded:12
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    Review| Open Access

    Biomarkers and therapeutic targets: microRNA roles in the pathophysiology, diagnosis and management of eosinophilic esophagitis

    Kristin A. Lambert, Punit Jhaveri, Pooja Jhaveri

    Eosinophilic esophagitis (EoE) is a chronic inflammatory disease that is increasingly recognized as the cause of common gastrointestinal symptoms including dysphagia, chest and abdominal pain, heartburn, food impaction, and food refusal in children and adults. Often referred to as “asthma of the... Read more

    This article belongs to the Special Issue MicroRNAs in Allergic Diseases J Transl Genet Genom 2018;2:11. | doi:10.20517/jtgg.2018.11
    Published on: 8 Aug 2018  | Viewed:343  | Downloaded:30
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    Review| Open Access

    Molecular genetics of Ewing sarcoma, model systems and finding novel (immuno-) therapeutic targets

    Wietske van der Ent, Laurens G.L. Sand, Pancras C.W. Hogendoorn

    Ewing sarcoma (EWS) is a bone- and soft tissue tumour affecting primarily children and young adults. A quarter of patients present with metastases at the time of diagnosis and have a poor outlook in terms of overall survival. Efforts are made across the field to gain deeper insight in the... Read more

    This article belongs to the Special Issue Genetics and Genomics of Cancer J Transl Genet Genom 2018;2:10. | doi:10.20517/jtgg.2018.09
    Published on: 16 Jul 2018  | Viewed:946  | Downloaded:39
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    Review| Open Access

    MERRF and MELAS: current gene therapy trends and approaches

    Ciara Ann Agresti, Penelope Nicole Halkiadakis, Peter Tolias

    The mitochondrion is a unique organelle that predominantly functions to produce useful cellular energy in the form of adenosine triphosphate (ATP). Unlike other non-nuclear eukaryotic organelles (with the exception of chloroplasts), mitochondria have two lipid membranes that enclose their own... Read more

    This article belongs to the Special Issue Personalized genomic medicine: challenges and opportunities for the diagnosis and the treatment of human disease J Transl Genet Genom 2018;2:9. | doi:10.20517/jtgg.2018.05
    Published on: 3 Jul 2018  | Viewed:973  | Downloaded:64
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    Case Report| Open Access

    Detection of leukocyte adhesion deficiency type 1 in an infant by high-throughput targeted exome sequencing

    Sha Hong, Li-Juan Xie, Qing-Nan Yang, Tian-Wen Zhu

    Leukocyte adhesion deficiency type 1 (LAD-I) characterized by immune-deficiency and leukocytosis is rare in infant patients. A 43-day-old boy with severe leukocytosis, recurrent infections, defective wound healing and hepatosplenomegaly associated with an acquired cytomegalovirus infection. To... Read more

    This article belongs to the Special Issue Personalized genomic medicine: challenges and opportunities for the diagnosis and the treatment of human disease J Transl Genet Genom 2018;2:8. | doi:10.20517/jtgg.2018.06
    Published on: 28 Jun 2018  | Viewed:644  | Downloaded:12
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    Review| Open Access

    The failure of “engineered rejuvenation”: laboratory genomics do not translate into precision anti-aging therapies

    Marios Kyriazis

    There is a general failure of reductionist and mechanistic approaches to rejuvenation biomedical technologies which aim at providing treatments against aging (defined as “time-dependent dysfunction”). Importantly, it is becoming increasingly recognised that genomic research findings in animals... Read more

    This article belongs to the Special Issue Personalized genomic medicine: challenges and opportunities for the diagnosis and the treatment of human disease J Transl Genet Genom 2018;2:7. | doi:10.20517/jtgg.2018.04
    Published on: 15 Jun 2018  | Viewed:784  | Downloaded:27
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    Original Article| Open Access

    Exome sequencing identifies FLNC and ADD3 variants in a family with cardiomyopathy

    Alejandro J. Sanoja, Hua Li, F. Jay Fricker, Stephen F. Kingsmore, Margaret R. Wallace

    Aim: Idiopathic cardiomyopathy is often genetic in origin, typically autosomal dominant, and restrictive cardiomyopathy (RCM) is the rarest form. Clinically, RCM prognosis is poor with most patients requiring heart transplant due to impaired diastolic function leading to heart failure. In some... Read more

    J Transl Genet Genom 2018;2:6. | doi:10.20517/jtgg.2017.13
    Published on: 30 May 2018  | Viewed:795  | Downloaded:36
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    Review| Open Access

    Parathyroid carcinoma

    Jessica Costa-Guda

    Parathyroid carcinoma is a rare but clinically-aggressive tumor. While most cases are sporadic, parathyroid cancer is overrepresented in hyperparathyroidism-jaw tumor syndrome, or rarely other heritable syndromes. Evidence suggests that sporadic parathyroid carcinomas rarely, if ever, evolve... Read more

    This article belongs to the Special Issue Genetics and Genomics of Cancer J Transl Genet Genom 2018;2:5. | doi:10.20517/jtgg.2018.08
    Published on: 22 May 2018  | Viewed:770  | Downloaded:34
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    Systematic Review| Open Access

    Clinical genomics of the relationship between ADAMTS7 and coronary artery calcification and atherosclerosis

    Simon W. Rabkin, Pavlos G. Koitsopoulos

    Aim: There are many coronary artery disease (CAD) cases in which the explanation for its development cannot be readily explained by traditional risk factors. The purpose of this study was to examine the data whether ADAMTS7 polymorphisms is related to the presence or severity of CAD. Methods: A... Read more

    J Transl Genet Genom 2018;2:4. | doi:10.20517/jtgg.2018.01
    Published on: 13 Apr 2018  | Viewed:998  | Downloaded:46
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