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  1. Primary Research

    Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism

    Most mitochondrial and cytoplasmic aminoacyl-tRNA synthetases (aaRSs) are encoded by nuclear genes. Syndromic disorders resulting from mutation of aaRSs genes display significant phenotypic heterogeneity. We e...

    Abdulaziz Alsemari, Banan Al-Younes, Ewa Goljan, Dyala Jaroudi, Faisal BinHumaid, Brian F. Meyer, Stefan T. Arold and Dorota Monies

    Human Genomics 2017 11:28

    Published on: 14 November 2017

  2. Primary Research

    Single nucleotide polymorphisms in the angiogenic and lymphangiogenic pathways are associated with lymphedema caused by Wuchereria bancrofti

    Lymphedema (LE) is a chronic clinical manifestation of filarial nematode infections characterized by lymphatic dysfunction and subsequent accumulation of protein-rich fluid in the interstitial space—lymphatic ...

    Linda Batsa Debrah, Anna Albers, Alexander Yaw Debrah, Felix F. Brockschmidt, Tim Becker, Christine Herold, Andrea Hofmann, Jubin Osei-Mensah, Yusif Mubarik, Holger Fröhlich, Achim Hoerauf and Kenneth Pfarr

    Human Genomics 2017 11:26

    Published on: 9 November 2017

  3. Primary Research

    Identification of a novel genetic locus underlying tremor and dystonia

    Five affected individuals with syndromic tremulous dystonia, spasticity, and white matter disease from a consanguineous extended family covering a period of over 24 years are presented. A positional cloning ap...

    Dorota Monies, Hussam Abou Al-Shaar, Ewa A. Goljan, Banan Al-Younes, Muna Monther Abdullah Al-Breacan, Maher Mohammed Al-Saif, Salma M. Wakil, Brian F. Meyer, Khalid S. A. Khabar and Saeed Bohlega

    Human Genomics 2017 11:25

    Published on: 6 November 2017

  4. Primary Research

    Whole transcriptome analysis of human erythropoietic cells during ontogenesis suggests a role of VEGFA gene as modulator of fetal hemoglobin and pharmacogenomic biomarker of treatment response to hydroxyurea in β-type hemoglobinopathy patients

    Human erythropoiesis is characterized by distinct gene expression profiles at various developmental stages. Previous studies suggest that fetal-to-adult hemoglobin switch is regulated by a complex mechanism, i...

    Vasiliki Chondrou, Petros Kolovos, Argyro Sgourou, Alexandra Kourakli, Alexia Pavlidaki, Vlasia Kastrinou, Anne John, Argiris Symeonidis, Bassam R. Ali, Adamantia Papachatzopoulou, Theodora Katsila and George P. Patrinos

    Human Genomics 2017 11:24

    Published on: 23 October 2017

  5. Opinion Article

    Precision medicine at the crossroads

    There are bioethical, institutional, economic, legal, and cultural obstacles to creating the robust-precompetitive-data resource that will be required to advance the vision of “precision medicine,” the ability...

    Maynard V. Olson

    Human Genomics 2017 11:23

    Published on: 11 October 2017

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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

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