Skip to main content

Advertisement

Articles

Page 4 of 24

  1. Content type: Research

    Genome–phenome studies have identified thousands of variants that are statistically associated with disease or traits; however, their functional roles are largely unclear. A comprehensive investigation of regu...

    Authors: Junfei Zhao, Feixiong Cheng, Peilin Jia, Nancy Cox, Joshua C. Denny and Zhongming Zhao

    Citation: Genome Medicine 2018 10:7

    Published on:

  2. Content type: Research

    Despite the increasing recognition that microbial communities within the human body are linked to health, we have an incomplete understanding of the environmental and molecular interactions that shape the comp...

    Authors: Raivo Kolde, Eric A. Franzosa, Gholamali Rahnavard, Andrew Brantley Hall, Hera Vlamakis, Christine Stevens, Mark J. Daly, Ramnik J. Xavier and Curtis Huttenhower

    Citation: Genome Medicine 2018 10:6

    Published on:

  3. Content type: Research

    Severe infections with highly virulent community-associated methicillin-resistant Staphylococcus aureus (CA-MRSA) are a global problem. However, the molecular events defining the evolution of CA-MRSA are still po...

    Authors: Lei He, Hong-Xiang Zheng, Yanan Wang, Katherine Y. Le, Qian Liu, Jun Shang, Yingxin Dai, Hongwei Meng, Xing Wang, Tianming Li, Qianqian Gao, Juanxiu Qin, Huiying Lu, Michael Otto and Min Li

    Citation: Genome Medicine 2018 10:5

    Published on:

  4. Content type: Correction

    The original version of this article [1] unfortunately contained a typographical error. The ‘Alzheimer’s Disease Neuroimaging Initiative’ was erroneously included as ‘Alzheimer’s Disease Neuroimaging Initative...

    Authors: Perry G. Ridge, Celeste M. Karch, Simon Hsu, Ivan Arano, Craig C. Teerlink, Mark T. W. Ebbert, Josue D. Gonzalez Murcia, James M. Farnham, Anna R. Damato, Mariet Allen, Xue Wang, Oscar Harari, Victoria M. Fernandez, Rita Guerreiro, Jose Bras, John Hardy…

    Citation: Genome Medicine 2018 10:4

    Published on:

    The original article was published in Genome Medicine 2017 9:100

  5. Content type: Research

    Glycosylphosphatidylinositol biosynthesis defects (GPIBDs) cause a group of phenotypically overlapping recessive syndromes with intellectual disability, for which pathogenic mutations have been described in 16...

    Authors: Alexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, Nurulhuda Hajjir, Max Zhao, Tzung-Chien Hsieh, Max Schubach, Yaron Gurovich, Nicole Fleischer, Marten Jäger, Sebastian Köhler, Hiltrud Muhle, Christian Korff, Rikke S. Møller, Allan Bayat, Patrick Calvas…

    Citation: Genome Medicine 2018 10:3

    Published on:

  6. Content type: Research

    The Ras pathway genes KRAS, BRAF, or ERBBs have somatic mutations in ~ 60% of human colorectal carcinomas. At present, it is unknown whether the remaining cases lack mutations activating the Ras pathway or whethe...

    Authors: Snehangshu Kundu, Muhammad Akhtar Ali, Niklas Handin, Narendra Padhan, Jimmy Larsson, Maria Karoutsou, Kenneth Ban, Jacek R. Wiśniewski, Per Artursson, Liqun He, Mats Hellström and Tobias Sjöblom

    Citation: Genome Medicine 2018 10:2

    Published on:

  7. Content type: Research

    Enterococcus faecium is a leading cause of hospital-acquired infection, particularly in the immunocompromised. Here, we use whole genome sequencing of E. faecium to study within-host e...

    Authors: Danesh Moradigaravand, Theodore Gouliouris, Beth Blane, Plamena Naydenova, Catherine Ludden, Charles Crawley, Nicholas M. Brown, M. Estée Török, Julian Parkhill and Sharon J. Peacock

    Citation: Genome Medicine 2017 9:119

    Published on:

  8. Content type: Research

    The phenotypic severity of congenital muscular dystrophy-dystroglycanopathy (MDDG) syndromes associated with aberrant glycosylation of α-dystroglycan ranges from the severe Walker-Warburg syndrome or muscle-ey...

    Authors: Reza Maroofian, Moniek Riemersma, Lucas T. Jae, Narges Zhianabed, Marjolein H. Willemsen, Willemijn M. Wissink-Lindhout, Michèl A. Willemsen, Arjan P. M. de Brouwer, Mohammad Yahya Vahidi Mehrjardi, Mahmoud Reza Ashrafi, Benno Kusters, Tjitske Kleefstra, Yalda Jamshidi, Mojila Nasseri, Rolph Pfundt, Thijn R. Brummelkamp…

    Citation: Genome Medicine 2017 9:118

    Published on:

  9. Content type: Research

    Variability in drug efficacy and adverse effects are observed in clinical practice. While the extent of genetic variability in classic pharmacokinetic genes is rather well understood, the role of genetic varia...

    Authors: Charlotta Pauline Irmgard Schärfe, Roman Tremmel, Matthias Schwab, Oliver Kohlbacher and Debora Susan Marks

    Citation: Genome Medicine 2017 9:117

    Published on:

  10. Content type: Research

    Despite a myriad of attempts in the last three decades to diagnose ovarian cancer (OC) earlier, this clinical aim still remains a significant challenge. Aberrant methylation patterns of linked CpGs analyzed in...

    Authors: Martin Widschwendter, Michal Zikan, Benjamin Wahl, Harri Lempiäinen, Tobias Paprotka, Iona Evans, Allison Jones, Shohreh Ghazali, Daniel Reisel, Johannes Eichner, Tamas Rujan, Zhen Yang, Andrew E. Teschendorff, Andy Ryan, David Cibula, Usha Menon…

    Citation: Genome Medicine 2017 9:116

    Published on:

  11. Content type: Research

    Monitoring treatment and early detection of fatal breast cancer (BC) remains a major unmet need. Aberrant circulating DNA methylation (DNAme) patterns are likely to provide a highly specific cancer signal. We ...

    Authors: Martin Widschwendter, Iona Evans, Allison Jones, Shohreh Ghazali, Daniel Reisel, Andy Ryan, Aleksandra Gentry-Maharaj, Michal Zikan, David Cibula, Johannes Eichner, Marianna Alunni-Fabbroni, Julian Koch, Wolfgang J. Janni, Tobias Paprotka, Timo Wittenberger, Usha Menon…

    Citation: Genome Medicine 2017 9:115

    Published on:

  12. Content type: Research

    Integrating rare variation from trio family and case–control studies has successfully implicated specific genes contributing to risk of neurodevelopmental disorders (NDDs) including autism spectrum disorders (...

    Authors: Hoang T. Nguyen, Julien Bryois, April Kim, Amanda Dobbyn, Laura M. Huckins, Ana B. Munoz-Manchado, Douglas M. Ruderfer, Giulio Genovese, Menachem Fromer, Xinyi Xu, Dalila Pinto, Sten Linnarsson, Matthijs Verhage, August B. Smit, Jens Hjerling-Leffler, Joseph D. Buxbaum…

    Citation: Genome Medicine 2017 9:114

    Published on:

  13. Content type: Opinion

    The translation of personal genomics to precision medicine depends on the accurate interpretation of the multitude of genetic variants observed for each individual. However, even when genetic variants are pred...

    Authors: Gustavo Glusman, Peter W. Rose, Andreas Prlić, Jennifer Dougherty, José M. Duarte, Andrew S. Hoffman, Geoffrey J. Barton, Emøke Bendixen, Timothy Bergquist, Christian Bock, Elizabeth Brunk, Marija Buljan, Stephen K. Burley, Binghuang Cai, Hannah Carter, JianJiong Gao…

    Citation: Genome Medicine 2017 9:113

    Published on:

  14. Content type: Q&A

    Peter M. Visscher discusses advances in our understanding of complex disease, the challenges in applying this knowledge to functional follow-up, and the potential implications for therapeutic interventions.

    Authors: Peter M. Visscher

    Citation: Genome Medicine 2017 9:112

    Published on:

  15. Content type: Research Highlight

    Clinical genetics laboratories have recently adopted guidelines for the interpretation of sequence variants set by the American College of Medical Genetics (ACMG) and Association for Molecular Pathology (AMP)....

    Authors: Lora J. H. Bean and Madhuri R. Hegde

    Citation: Genome Medicine 2017 9:111

    Published on:

  16. Content type: Comment

    Antibiotics have become the standard of care for bacterial infections. However, rising rates of antibiotic-resistant infections are outpacing the development of new antimicrobials. Broad-spectrum antibiotics a...

    Authors: Alexandra E. Paharik, Henry L. Schreiber IV, Caitlin N. Spaulding, Karen W. Dodson and Scott J. Hultgren

    Citation: Genome Medicine 2017 9:110

    Published on:

  17. Content type: Research Highlight

    Distinct neurodevelopmental disorders have a common genetic etiology that explains the high degree of comorbidity among these disorders. A recent study sought to identify copy number variants across five neuro...

    Authors: Matthew Jensen and Santhosh Girirajan

    Citation: Genome Medicine 2017 9:109

    Published on:

    The Research to this article has been published in Genome Medicine 2017 9:106

  18. Content type: Software

    Single-cell RNA sequencing (scRNA-Seq) is an increasingly popular platform to study heterogeneity at the single-cell level. Computational methods to process scRNA-Seq data are not very accessible to bench scie...

    Authors: Xun Zhu, Thomas K. Wolfgruber, Austin Tasato, Cédric Arisdakessian, David G. Garmire and Lana X. Garmire

    Citation: Genome Medicine 2017 9:108

    Published on:

  19. Content type: Research

    Neurodevelopmental and neuropsychiatric disorders represent a wide spectrum of heterogeneous yet inter-related disease conditions. The overlapping clinical presentations of these diseases suggest a shared gene...

    Authors: Joseph T. Glessner, Jin Li, Dai Wang, Michael March, Leandro Lima, Akshatha Desai, Dexter Hadley, Charlly Kao, Raquel E. Gur, Nadine Cohen, Patrick M. A. Sleiman, Qingqin Li and Hakon Hakonarson

    Citation: Genome Medicine 2017 9:106

    Published on:

    The Research Highlight to this article has been published in Genome Medicine 2017 9:109

  20. Content type: Research

    Schizophrenia is a severe psychiatric disorder associated with IQ deficits. Rare copy number variations (CNVs) have been established to play an important role in the etiology of schizophrenia. Several of the l...

    Authors: Chelsea Lowther, Daniele Merico, Gregory Costain, Jack Waserman, Kerry Boyd, Abdul Noor, Marsha Speevak, Dimitri J. Stavropoulos, John Wei, Anath C. Lionel, Christian R. Marshall, Stephen W. Scherer and Anne S. Bassett

    Citation: Genome Medicine 2017 9:105

    Published on:

  21. Content type: Research

    While age and the APOE ε4 allele are major risk factors for Alzheimer’s disease (AD), a small percentage of individuals with these risk factors exhibit AD resilience by living well beyond 75 years of age without ...

    Authors: Perry G. Ridge, Celeste M. Karch, Simon Hsu, Ivan Arano, Craig C. Teerlink, Mark T. W. Ebbert, Josue D. Gonzalez Murcia, James M. Farnham, Anna R. Damato, Mariet Allen, Xue Wang, Oscar Harari, Victoria M. Fernandez, Rita Guerreiro, Jose Bras, John Hardy…

    Citation: Genome Medicine 2017 9:100

    Published on:

    The Correction to this article has been published in Genome Medicine 2018 10:4

  22. Content type: Research

    Establishing the cancer type and site of origin is important in determining the most appropriate course of treatment for cancer patients. Patients with cancer of unknown primary, where the site of origin canno...

    Authors: Kee Pang Soh, Ewa Szczurek, Thomas Sakoparnig and Niko Beerenwinkel

    Citation: Genome Medicine 2017 9:104

    Published on:

  23. Content type: Research

    Inflammatory bowel disease (IBD) is characterized by chronic inflammation of the gastrointestinal tract that is associated with changes in the gut microbiome. Here, we sought to identify strain-specific functi...

    Authors: Andrew Brantley Hall, Moran Yassour, Jenny Sauk, Ashley Garner, Xiaofang Jiang, Timothy Arthur, Georgia K. Lagoudas, Tommi Vatanen, Nadine Fornelos, Robin Wilson, Madeline Bertha, Melissa Cohen, John Garber, Hamed Khalili, Dirk Gevers, Ashwin N. Ananthakrishnan…

    Citation: Genome Medicine 2017 9:103

    Published on:

  24. Content type: Review

    Neuroimaging genomics is a relatively new field focused on integrating genomic and imaging data in order to investigate the mechanisms underlying brain phenotypes and neuropsychiatric disorders. While early wo...

    Authors: Mary S. Mufford, Dan J. Stein, Shareefa Dalvie, Nynke A. Groenewold, Paul M. Thompson and Neda Jahanshad

    Citation: Genome Medicine 2017 9:102

    Published on:

  25. Content type: Review

    Next-generation sequencing (NGS) is now more accessible to clinicians and researchers. As a result, our understanding of the genetics of neurodevelopmental disorders (NDDs) has rapidly advanced over the past f...

    Authors: Amy B. Wilfert, Arvis Sulovari, Tychele N. Turner, Bradley P. Coe and Evan E. Eichler

    Citation: Genome Medicine 2017 9:101

    Published on:

  26. Content type: Research

    The nature and underlying mechanisms of the observed increased vulnerability to posttraumatic stress disorder (PTSD) in women are unclear.

    Authors: Renato Polimanti, Ananda B. Amstadter, Murray B. Stein, Lynn M. Almli, Dewleen G. Baker, Laura J. Bierut, Bekh Bradley, Lindsay A. Farrer, Eric O. Johnson, Anthony King, Henry R. Kranzler, Adam X. Maihofer, John P. Rice, Andrea L. Roberts, Nancy L. Saccone, Hongyu Zhao…

    Citation: Genome Medicine 2017 9:99

    Published on:

  27. Content type: Research

    Genome-wide association studies are useful for discovering genotype–phenotype associations but are limited because they require large cohorts to identify a signal, which can be population-specific. Mapping gen...

    Authors: Assaf Gottlieb, Roxana Daneshjou, Marianne DeGorter, Stephane Bourgeois, Peter J. Svensson, Mia Wadelius, Panos Deloukas, Stephen B. Montgomery and Russ B. Altman

    Citation: Genome Medicine 2017 9:98

    Published on:

  28. Content type: Research

    Amyotrophic lateral sclerosis (ALS) is a progressive neurological disease characterised by the degeneration of motor neurons, which are responsible for voluntary movement. There remains limited understanding o...

    Authors: Jacob Gratten, Qiongyi Zhao, Beben Benyamin, Fleur Garton, Ji He, Paul J. Leo, Marie Mangelsdorf, Lisa Anderson, Zong-Hong Zhang, Lu Chen, Xiang-Ding Chen, Katie Cremin, Hong-Weng Deng, Janette Edson, Ying-Ying Han, Jessica Harris…

    Citation: Genome Medicine 2017 9:97

    Published on:

  29. Content type: Comment

    Genome-wide association studies have made strides in identifying common variation associated with disease. The modest effect sizes preclude risk prediction based on single genetic variants, but polygenic risk ...

    Authors: Cathryn M. Lewis and Evangelos Vassos

    Citation: Genome Medicine 2017 9:96

    Published on:

  30. Content type: Research

    Left-sided lesions (LSLs) account for an important fraction of severe congenital cardiovascular malformations (CVMs). The genetic contributions to LSLs are complex, and the mutations that cause these malformat...

    Authors: Alexander H. Li, Neil A. Hanchard, Dieter Furthner, Susan Fernbach, Mahshid Azamian, Annarita Nicosia, Jill Rosenfeld, Donna Muzny, Lisa C. A. D’Alessandro, Shaine Morris, Shalini Jhangiani, Dhaval R. Parekh, Wayne J. Franklin, Mark Lewin, Jeffrey A. Towbin, Daniel J. Penny…

    Citation: Genome Medicine 2017 9:95

    Published on:

  31. Content type: Research

    Intertumoral heterogeneity represents a significant hurdle to identifying optimized targeted therapies in gastric cancer (GC). To realize precision medicine for GC patients, an actionable gene alteration-based...

    Authors: Hiroshi Ichikawa, Masayuki Nagahashi, Yoshifumi Shimada, Takaaki Hanyu, Takashi Ishikawa, Hitoshi Kameyama, Takashi Kobayashi, Jun Sakata, Hiroshi Yabusaki, Satoru Nakagawa, Nobuaki Sato, Yuki Hirata, Yuko Kitagawa, Toshiyuki Tanahashi, Kazuhiro Yoshida, Ryota Nakanishi…

    Citation: Genome Medicine 2017 9:93

    Published on:

  32. Content type: Research

    The ST313 sequence type of Salmonella Typhimurium causes invasive non-typhoidal salmonellosis and was thought to be confined to sub-Saharan Africa. Two distinct phylogenetic lineages of African ST313 have been id...

    Authors: Philip M. Ashton, Siân V. Owen, Lukeki Kaindama, Will P. M. Rowe, Chris R. Lane, Lesley Larkin, Satheesh Nair, Claire Jenkins, Elizabeth M. de Pinna, Nicholas A. Feasey, Jay C. D. Hinton and Timothy J. Dallman

    Citation: Genome Medicine 2017 9:92

    Published on:

  33. Content type: Research

    Next-generation sequencing (NGS) of cancer gene panels are widely applied to enable personalized cancer therapy and to identify novel oncogenic mutations.

    Authors: Shuyu D. Li, Meng Ma, Hui Li, Aneta Waluszko, Tatyana Sidorenko, Eric E. Schadt, David Y. Zhang, Rong Chen and Fei Ye

    Citation: Genome Medicine 2017 9:89

    Published on:

  34. Content type: Research

    The Wiskott–Aldrich syndrome protein (WASp) family of actin-nucleating factors are present in the cytoplasm and in the nucleus. The role of nuclear WASp for T cell development remains incompletely defined.

    Authors: Nikolai V. Kuznetsov, Bader Almuzzaini, Joanna S. Kritikou, Marisa A. P. Baptista, Mariana M. S. Oliveira, Marton Keszei, Scott B. Snapper, Piergiorgio Percipalle and Lisa S. Westerberg

    Citation: Genome Medicine 2017 9:91

    Published on:

  35. Content type: Research

    Massively parallel DNA sequencing, such as exome sequencing, has become a routine clinical procedure to identify pathogenic variants responsible for a patient’s phenotype. Exome sequencing has the capability o...

    Authors: Hayk Barseghyan, Wilson Tang, Richard T. Wang, Miguel Almalvez, Eva Segura, Matthew S. Bramble, Allen Lipson, Emilie D. Douine, Hane Lee, Emmanuèle C. Délot, Stanley F. Nelson and Eric Vilain

    Citation: Genome Medicine 2017 9:90

    Published on:

  36. Content type: Software

    The human leukocyte antigen (HLA) system is a genomic region involved in regulating the human immune system by encoding cell membrane major histocompatibility complex (MHC) proteins that are responsible for se...

    Authors: Martin L. Buchkovich, Chad C. Brown, Kimberly Robasky, Shengjie Chai, Sharon Westfall, Benjamin G. Vincent, Eric T. Weimer and Jason G. Powers

    Citation: Genome Medicine 2017 9:86

    Published on:

  37. Content type: Comment

    Genome editing using clustered regularly interspersed short palindromic repeats (CRISPR) and CRISPR-associated proteins offers the potential to facilitate safe and effective treatment of genetic diseases refra...

    Authors: Dianne Nicol, Lisa Eckstein, Michael Morrison, Jacob S. Sherkow, Margaret Otlowski, Tess Whitton, Tania Bubela, Kathryn P. Burdon, Don Chalmers, Sarah Chan, Jac Charlesworth, Christine Critchley, Merlin Crossley, Sheryl de Lacey, Joanne L. Dickinson, Alex W. Hewitt…

    Citation: Genome Medicine 2017 9:85

    Published on:

  38. Content type: Correspondence

    National and international public–private partnerships, consortia, and government initiatives are underway to collect and share genomic, personal, and healthcare data on a massive scale. Ideally, these efforts...

    Authors: Patricia A. Deverka, Mary A. Majumder, Angela G. Villanueva, Margaret Anderson, Annette C. Bakker, Jessica Bardill, Eric Boerwinkle, Tania Bubela, Barbara J. Evans, Nanibaa’ A. Garrison, Richard A. Gibbs, Robert Gentleman, David Glazer, Melissa M. Goldstein, Hank Greely, Crane Harris…

    Citation: Genome Medicine 2017 9:84

    Published on:

  39. Content type: Research

    Exon-targeted microarrays can detect small (<1000 bp) intragenic copy number variants (CNVs), including those that affect only a single exon. This genome-wide high-sensitivity approach increases the molecular ...

    Authors: Tomasz Gambin, Bo Yuan, Weimin Bi, Pengfei Liu, Jill A. Rosenfeld, Zeynep Coban-Akdemir, Amber N. Pursley, Sandesh C. S. Nagamani, Ronit Marom, Sailaja Golla, Lauren Dengle, Heather G. Petrie, Reuben Matalon, Lisa Emrick, Monica B. Proud, Diane Treadwell-Deering…

    Citation: Genome Medicine 2017 9:83

    Published on:

  40. Content type: Research

    Tackling multidrug-resistant Escherichia coli requires evidence from One Health studies that capture numerous potential reservoirs in circumscribed geographic areas.

    Authors: Chakkaphan Runcharoen, Kathy E. Raven, Sandra Reuter, Teemu Kallonen, Suporn Paksanont, Jeeranan Thammachote, Suthatip Anun, Beth Blane, Julian Parkhill, Sharon J. Peacock and Narisara Chantratita

    Citation: Genome Medicine 2017 9:81

    Published on:

  41. Content type: Research

    Neoepitopes derived from tumor-specific somatic mutations are promising targets for immunotherapy in childhood cancers. However, the potential for such therapies in targeting these epitopes remains uncertain d...

    Authors: Ti-Cheng Chang, Robert A. Carter, Yongjin Li, Yuxin Li, Hong Wang, Michael N. Edmonson, Xiang Chen, Paula Arnold, Terrence L. Geiger, Gang Wu, Junmin Peng, Michael Dyer, James R. Downing, Douglas R. Green, Paul G. Thomas and Jinghui Zhang

    Citation: Genome Medicine 2017 9:78

    Published on:

2018 Journal Metrics

Advertisement