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  1. Primary Research

    Evaluating somatic tumor mutation detection without matched normal samples

    Observations of recurrent somatic mutations in tumors have led to identification and definition of signaling and other pathways that are important for cancer progression and therapeutic targeting. As tumor cel...

    Jamie K. Teer, Yonghong Zhang, Lu Chen, Eric A. Welsh, W. Douglas Cress, Steven A. Eschrich and Anders E. Berglund

    Human Genomics 2017 11:22

    Published on: 4 September 2017

  2. Primary Research

    Distinct transcriptional and metabolic profiles associated with empathy in Buddhist priests: a pilot study

    Growing evidence suggests that spiritual/religious involvement may have beneficial effects on both psychological and physical functions. However, the biological basis for this relationship remains unclear. Thi...

    Junji Ohnishi, Satoshi Ayuzawa, Seiji Nakamura, Shigeko Sakamoto, Miyo Hori, Tomoko Sasaoka, Eriko Takimoto-Ohnishi, Masakazu Tanatsugu and Kazuo Murakami

    Human Genomics 2017 11:21

    Published on: 2 September 2017

  3. Primary Research

    A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens

    Autosomal recessive forms of retinitis punctata albescens (RPA) have been described. RPA is characterized by progressive retinal degeneration due to alteration in visual cycle and consequent deposit of photopi...

    Concetta Scimone, Luigi Donato, Teresa Esposito, Carmela Rinaldi, Rosalia D’Angelo and Antonina Sidoti

    Human Genomics 2017 11:18

    Published on: 1 August 2017

  4. Primary Research

    Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome

    The ciliopathies represent an umbrella group of >50 clinical entities that share both clinical features and molecular etiology underscored by structural and functional defects of the primary cilium. Despite th...

    Benjamin M. Helm, Jason R. Willer, Azita Sadeghpour, Christelle Golzio, Eric Crouch, Samantha Schrier Vergano, Nicholas Katsanis and Erica E. Davis

    Human Genomics 2017 11:16

    Published on: 19 July 2017

  5. Primary Research

    Inferring clonal structure in HTLV-1-infected individuals: towards bridging the gap between analysis and visualization

    Human T cell leukemia virus type 1 (HTLV-1) causes adult T cell leukemia (ATL) in a proportion of infected individuals after a long latency period. Development of ATL is a multistep clonal process that can be ...

    Amir Farmanbar, Sanaz Firouzi, Wojciech Makałowski, Masako Iwanaga, Kaoru Uchimaru, Atae Utsunomiya, Toshiki Watanabe and Kenta Nakai

    Human Genomics 2017 11:15

    Published on: 11 July 2017

  6. Primary Research

    Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology

    Breast cancer is the most common among women worldwide, and ovarian cancer is the most difficult gynecological tumor to diagnose and with the lowest chance of cure. Mutations in BRCA1 and BRCA2 genes increase the...

    Ana Lígia Buzolin, Caroline Mônaco Moreira, Patricia Rossi Sacramento, Andre Yuji Oku, Alexandre Ricardo dos Santos Fornari, David Santos Marco Antonio, Caio Robledo D Angioli Costa Quaio, Wagner Rosa Baratela and Miguel Mitne-Neto

    Human Genomics 2017 11:14

    Published on: 26 June 2017

  7. Review

    The NF1 somatic mutational landscape in sporadic human cancers

    Neurofibromatosis type 1 (NF1: Online Mendelian Inheritance in Man (OMIM) #162200) is an autosomal dominantly inherited tumour predisposition syndrome. Heritable constitutional mutations in the NF1 gene result in...

    Charlotte Philpott, Hannah Tovell, Ian M. Frayling, David N. Cooper and Meena Upadhyaya

    Human Genomics 2017 11:13

    Published on: 21 June 2017

  8. Primary research

    A pipeline combining multiple strategies for prioritizing heterozygous variants for the identification of candidate genes in exome datasets

    The identification of disease-causing variants in autosomal dominant diseases using exome-sequencing data remains a difficult task in small pedigrees. We combined several strategies to improve filtering and pr...

    Teresa Requena, Alvaro Gallego-Martinez and Jose A. Lopez-Escamez

    Human Genomics 2017 11:11

    Published on: 22 May 2017

  9. Primary Research

    Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics

    Genetic variant effect prediction algorithms are used extensively in clinical genomics and research to determine the likely consequences of amino acid substitutions on protein function. It is vital that we bet...

    Khalid Mahmood, Chol-hee Jung, Gayle Philip, Peter Georgeson, Jessica Chung, Bernard J. Pope and Daniel J. Park

    Human Genomics 2017 11:10

    Published on: 16 May 2017

  10. Letter to the Editor

    Identification of novel genes associated with HIV-1 latency by analysis of histone modifications

    A reservoir of HIV-1 is a major obstacle in eliminating HIV-1 in patients because it can reactivate in stopping antiretroviral therapy (ART). Histone modifications, such as acetylation and methylation, play a ...

    Kyung-Chang Kim, Sunyoung Lee, Junseock Son, Younghyun Shin, Cheol-Hee Yoon, Chun Kang and Byeong-Sun Choi

    Human Genomics 2017 11:9

    Published on: 12 May 2017

  11. Primary research

    Transcriptome analysis of bronchoalveolar lavage fluid from children with severe Mycoplasma pneumoniae pneumonia reveals novel gene expression and immunodeficiency

    A growing number of severe Mycoplasma pneumoniae pneumonia (MPP) cases have been reported recently. However, the pathogenesis of severe MPP is not clear. In the current study, transcriptome sequencing was used to...

    Kuo Wang, Man Gao, Mingyue Yang, Fanzheng Meng, Deli Li, Ruihua Lu, Yan Wang, Huadong Zhuang, Mengyao Li, Genhong Cheng and Xiaosong Wang

    Human Genomics 2017 11:4

    Published on: 16 March 2017

  12. Primary research

    Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys

    Congenital hypogonadotrophic hypogonadism (CHH) and Kallmann syndrome (KS) are caused by disruption to the hypothalamic-pituitary-gonadal (H-P-G) axis. In particular, reduced production, secretion or action of...

    Katie L. Ayers, Aurore Bouty, Gorjana Robevska, Jocelyn A. van den Bergen, Achmad Zulfa Juniarto, Nurin Aisyiyah Listyasari, Andrew H. Sinclair and Sultana M. H. Faradz

    Human Genomics 2017 11:1

    Published on: 16 February 2017

  13. Primary research

    Head-and-neck squamous cell carcinoma risk in smokers: no association detected between phenotype and AHR, CYP1A1, CYP1A2, or CYP1B1 genotype

    Head-and-neck squamous cell carcinoma (HNSCC) differs between smokers and nonsmokers in etiology and clinical presentation. Because of demonstrated unequivocal involvement in smoking-induced cancer in laborato...

    Lucia F. Jorge-Nebert, Ge Zhang, Keith M. Wilson, Zhengwen Jiang, Randall Butler, Jack L. Gluckman, Susan M. Pinney and Daniel W. Nebert

    Human Genomics 2016 10:39

    Published on: 28 November 2016

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