Skip to content

Advertisement

Articles

Page 2 of 22

  1. Content type: Research

    Autism spectrum disorder (ASD) is a severe neurodevelopmental disorder characterized by deficits in social communication and restricted, repetitive behaviors, interests, or activities. The etiology of ASD invo...

    Authors: Eilis Hannon, Diana Schendel, Christine Ladd-Acosta, Jakob Grove, Christine Søholm Hansen, Shan V. Andrews, David Michael Hougaard, Michaeline Bresnahan, Ole Mors, Mads Vilhelm Hollegaard, Marie Bækvad-Hansen, Mady Hornig, Preben Bo Mortensen, Anders D. Børglum, Thomas Werge, Marianne Giørtz Pedersen…

    Citation: Genome Medicine 2018 10:19

    Published on:

  2. Content type: Method

    B cells play a critical role in the immune response by producing antibodies, which display remarkable diversity. Here we describe a bioinformatic pipeline, BALDR (BCR Assignment of Lineage using De novo Reconstr...

    Authors: Amit A. Upadhyay, Robert C. Kauffman, Amber N. Wolabaugh, Alice Cho, Nirav B. Patel, Samantha M. Reiss, Colin Havenar-Daughton, Reem A. Dawoud, Gregory K. Tharp, Iñaki Sanz, Bali Pulendran, Shane Crotty, F. Eun-Hyung Lee, Jens Wrammert and Steven E. Bosinger

    Citation: Genome Medicine 2018 10:20

    Published on:

  3. Content type: Research

    A comprehensive understanding of cancer has been furthered with technological improvements and decreasing costs of next-generation sequencing (NGS). However, the complexity of interpreting genomic data is hind...

    Authors: Júlia Perera-Bel, Barbara Hutter, Christoph Heining, Annalen Bleckmann, Martina Fröhlich, Stefan Fröhling, Hanno Glimm, Benedikt Brors and Tim Beißbarth

    Citation: Genome Medicine 2018 10:18

    Published on:

  4. Content type: Research

    There are two main types of lung cancer: small cell lung cancer (SCLC) and non-small cell lung cancer (NSCLC). NSCLC has many subtypes, but the two most common are lung adenocarcinoma (LUAD) and lung squamous ...

    Authors: Timothy D. O’Brien, Peilin Jia, Neil E. Caporaso, Maria Teresa Landi and Zhongming Zhao

    Citation: Genome Medicine 2018 10:16

    Published on:

  5. Content type: Research

    Use of aspirin and other non-steroidal anti-inflammatory drugs (NSAIDs) has been shown to protect against tetraploidy, aneuploidy, and chromosomal alterations in the metaplastic condition Barrett’s esophagus (...

    Authors: Patricia C. Galipeau, Kenji M. Oman, Thomas G. Paulson, Carissa A. Sanchez, Qing Zhang, Jerry A. Marty, Jeffrey J. Delrow, Mary K. Kuhner, Thomas L. Vaughan, Brian J. Reid and Xiaohong Li

    Citation: Genome Medicine 2018 10:17

    Published on:

  6. Content type: Research

    One of the major challenges in current psychiatric epigenetic studies is the tissue specificity of epigenetic changes since access to brain samples is limited. Peripheral tissues have been studied as surrogate...

    Authors: Dongdong Lin, Jiayu Chen, Nora Perrone-Bizzozero, Juan R. Bustillo, Yuhui Du, Vince D. Calhoun and Jingyu Liu

    Citation: Genome Medicine 2018 10:13

    Published on:

  7. Content type: Research

    Genome-wide association studies of Alzheimer’s disease (AD) have identified a number of significant risk loci, the majority of which lie in non-coding regions of the genome. The lack of causal alleles and cons...

    Authors: Katherine E. Tansey, Darren Cameron and Matthew J. Hill

    Citation: Genome Medicine 2018 10:14

    Published on:

  8. Content type: Research

    Chlamydia trachomatis (Ct) is the most common infectious cause of blindness and bacterial sexually transmitted infection worldwide. Ct strain-specific differences in clinical trachoma suggest that genetic polymor...

    Authors: A. R. Last, H. Pickering, C. h. Roberts, F. Coll, J. Phelan, S. E. Burr, E. Cassama, M. Nabicassa, H. M. B. Seth-Smith, J. Hadfield, L. T. Cutcliffe, I. N. Clarke, D. C. W. Mabey, R. L. Bailey, T. G. Clark, N. R. Thomson…

    Citation: Genome Medicine 2018 10:15

    Published on:

  9. Content type: Comment

    Novel associations between the human microbiome and health and disease are routinely emerging, and important host–microbiome interactions are targets for new diagnostics and therapeutics. Understanding how bro...

    Authors: Joseph F. Petrosino

    Citation: Genome Medicine 2018 10:12

    Published on:

  10. Content type: Comment

    Specific prophylactic migraine treatments are urgently needed because of the unmet needs of many migraine patients. Antibodies targeting calcitonin gene-related peptide (CGRP) or its receptor have recently sho...

    Authors: Antoinette MaassenVanDenBrink, Gisela M. Terwindt and Arn M. J. M. van den Maagdenberg

    Citation: Genome Medicine 2018 10:10

    Published on:

  11. 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:

  12. 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:

  13. 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:

  14. 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

  15. 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:

  16. 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:

  17. 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:

  18. 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:

  19. 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:

  20. 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:

  21. 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:

  22. 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:

  23. 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:

  24. 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:

  25. 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:

  26. 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

  27. 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:

  28. 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:

  29. 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:

  30. 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

  31. 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

  32. 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:

  33. 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:

  34. 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:

  35. 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:

  36. 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:

  37. 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:

  38. 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:

  39. 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:

  40. 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:

2017 Journal Metrics

Advertisement