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  1. Content type: Genome database

    Germline pathogenic variants in the breast cancer type 1 susceptibility gene BRCA1 are associated with a 60% lifetime risk for breast and ovarian cancer. This overall risk estimate is for all BRCA1 variants; obvi...

    Authors: Isabelle Cusin, Daniel Teixeira, Monique Zahn-Zabal, Valentine Rech de Laval, Anne Gleizes, Valeria Viassolo, Pierre O. Chappuis, Pierre Hutter, Amos Bairoch and Pascale Gaudet

    Citation: Human Genomics 2018 12:36

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  2. Content type: Primary research

    Retinitis pigmentosa is an important cause of severe visual dysfunction. This study reports a novel splicing mutation in the lecithin retinol acyltransferase (LRAT) gene associated with early onset retinitis pigm...

    Authors: Yabin Chen, Li Huang, Xiaodong Jiao, Sheikh Riazuddin, S. Amer Riazuddin and J. Fielding Hetmancik

    Citation: Human Genomics 2018 12:35

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  3. Content type: Primary research

    Limb girdle muscular dystrophies (LGMD) are a group of heterogeneous hereditary myopathies with similar clinical symptoms. Disease onset and progression are highly variable, with an elusive genetic background,...

    Authors: Jakub Piotr Fichna, Anna Macias, Marcin Piechota, Michał Korostyński, Anna Potulska-Chromik, Maria Jolanta Redowicz and Cezary Zekanowski

    Citation: Human Genomics 2018 12:34

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  4. Content type: Letter to the Editor

    Naturally occurring stress-induced transcriptional readthrough is a recently discovered phenomenon, in which stress conditions lead to dramatic induction of long transcripts as a result of transcription termin...

    Authors: Niv Sabath, Anna Vilborg, Joan A. Steitz and Reut Shalgi

    Citation: Human Genomics 2018 12:32

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  5. Content type: Primary research

    Hearing loss is a major cause of disability worldwide, impairing communication, health, and quality of life. Emerging methods of gene therapy aim to address this morbidity, which can be employed to fix a genet...

    Authors: Kobi Perl, Ron Shamir and Karen B. Avraham

    Citation: Human Genomics 2018 12:30

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  6. Content type: Primary research

    The mechanism underlying chromosome rearrangement in nasopharyngeal carcinoma (NPC) remains elusive. It is known that most of the aetiological factors of NPC trigger oxidative stress. Oxidative stress is a pot...

    Authors: Sang-Nee Tan, Sai-Peng Sim and Alan Soo-Beng Khoo

    Citation: Human Genomics 2018 12:29

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  7. Content type: Primary research

    Oxidative stress is associated with the increased risk of hypertension (HTN). This cross-sectional study is aimed to identify the association between the peroxisome proliferator-activated receptor-δ (PPARD) polym...

    Authors: Minjoo Kim, Minkyung Kim, Hye Jin Yoo, Jayoung Shon and Jong Ho Lee

    Citation: Human Genomics 2018 12:28

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  8. Content type: Primary research

    Mutations in keratin proteins have been vastly associated with a wide array of genodermatoses; however, mutations of keratins in psoriasis have not been fully investigated. The main aim of the current research...

    Authors: Tamilselvi Elango, Jingying Sun, Caihong Zhu, Fusheng Zhou, Yaohua Zhang, Liangdan Sun, Sen Yang and Xuejun Zhang

    Citation: Human Genomics 2018 12:27

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  9. Content type: Review

    The analysis of population structure has many applications in medical and population genetic research. Such analysis is used to provide clear insight into the underlying genetic population substructure and is ...

    Authors: Luluah Alhusain and Alaaeldin M. Hafez

    Citation: Human Genomics 2018 12:25

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  10. Content type: Primary research

    Genomic and biosocial research data about individuals is rapidly proliferating, bringing the potential for novel opportunities for data integration and use. The scale, pace and novelty of these applications ra...

    Authors: Madeleine J. Murtagh, Mwenza T. Blell, Olly W. Butters, Lorraine Cowley, Edward S. Dove, Alissa Goodman, Rebecca L. Griggs, Alison Hall, Nina Hallowell, Meena Kumari, Massimo Mangino, Barbara Maughan, Melinda C. Mills, Joel T. Minion, Tom Murphy, Gillian Prior…

    Citation: Human Genomics 2018 12:24

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  11. Content type: Primary research

    Atypical iron overload without variation in the five clinically associated hereditary hemochromatosis genes is now recognized; however, their etiology remains unknown. Since the identification of iron overload...

    Authors: Cameron J. McDonald, Gautam Rishi, Eriza S. Secondes, Lesa Ostini, Daniel F. Wallace, Darrell H. G. Crawford, Hanlon Sia, Paul Clark and V. Nathan Subramaniam

    Citation: Human Genomics 2018 12:23

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  12. Content type: Primary research

    Recent innovations in gene analysis technology have allowed for rapid and inexpensive sequencing of entire genomes. Thus, both conducting a study using whole genome sequencing (WGS) in a large population and t...

    Authors: Taketoshi Okita, Noriko Ohashi, Daijiro Kabata, Ayumi Shintani and Kazuto Kato

    Citation: Human Genomics 2018 12:21

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  13. Content type: Primary research

    The APOBEC gene family of cytidine deaminases plays important roles in DNA repair and mRNA editing. In many cancers, APOBEC3B increases the mutation load, generating clusters of closely spaced, single-strand-spec...

    Authors: Suleyman Vural, Richard Simon and Julia Krushkal

    Citation: Human Genomics 2018 12:20

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  14. Content type: Primary research

    In individuals with Duchenne muscular dystrophy (DMD), exon skipping treatment to restore a wild-type phenotype or correct the frame shift of the mRNA transcript of the dystrophin (DMD) gene are mutation-specific...

    Authors: Nasser A. Elhawary, Essam H. Jiffri, Samira Jambi, Ahmad H. Mufti, Anas Dannoun, Hassan Kordi, Asim Khogeer, Osama H. Jiffri, Abdelrahman N. Elhawary and Mohammed T. Tayeb

    Citation: Human Genomics 2018 12:18

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  15. Content type: Primary research

    While there is an ongoing trend to identify single nucleotide substitutions (SNSs) that are linked to inter/intra-species differences and disease phenotypes, short tandem repeats (STRs)/microsatellites may be ...

    Authors: N. Nazaripanah, F. Adelirad, A. Delbari, R. Sahaf, T. Abbasi-Asl and M. Ohadi

    Citation: Human Genomics 2018 12:17

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  16. Content type: Letter to the Editor

    MicroRNAs (miRNAs) are crucial regulators of gene expression in normal development and cellular homeostasis. While miRNA repositories contain thousands of unique sequences, they primarily contain molecules tha...

    Authors: Brenda C. Minatel, Victor D. Martinez, Kevin W. Ng, Adam P. Sage, Tomas Tokar, Erin A. Marshall, Christine Anderson, Katey S. S. Enfield, Greg L. Stewart, Patricia P. Reis, Igor Jurisica and Wan L. Lam

    Citation: Human Genomics 2018 12:16

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  17. Content type: Letter to the Editor

    Previous studies demonstrated that massive induction of transcriptional readthrough generates downstream of gene-containing transcripts (DoGs) in cells under stress condition. Here, we analyzed TSS-seq (transc...

    Authors: Ming-Yu Huang and Ji-Long Liu

    Citation: Human Genomics 2018 12:15

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  18. Content type: Research Article

    Pompe disease (PD) is an autosomal recessive, lysosomal storage disease due to a mutation of the acid α-glucosidase (GAA) gene. In adult patients, PD is characterized by slowly progressive limb-girdle and trunk m...

    Authors: U. Plöckinger, V. Prasad, A. Ziagaki, N. Tiling and A. Poellinger

    Citation: Human Genomics 2018 12:14

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  19. Content type: Opinion Article

    Governments, funding bodies, institutions, and publishers have developed a number of strategies to encourage researchers to facilitate access to datasets. The rationale behind this approach is that this will b...

    Authors: Jane Kaye, Sharon F. Terry, Eric Juengst, Sarah Coy, Jennifer R. Harris, Don Chalmers, Edward S. Dove, Isabelle Budin-Ljøsne, Clement Adebamowo, Emilomo Ogbe, Louise Bezuidenhout, Michael Morrison, Joel T. Minion, Madeleine J. Murtagh, Jusaku Minari, Harriet Teare…

    Citation: Human Genomics 2018 12:13

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