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  1. Tuberous sclerosis complex (TSC) is a genetic disease characterized by benign tumor growths in multiple organs and neurological symptoms induced by mTOR hyperfunction. Because the molecular pathology is highly...

    Authors: Nils Grabole, Jitao David Zhang, Stefan Aigner, Nadine Ruderisch, Veronica Costa, Felix C. Weber, Michel Theron, Nikolaos Berntenis, Olivia Spleiss, Martin Ebeling, Gene W. Yeo, Ravi Jagasia and Anna Kiialainen
    Citation: Genome Medicine 2016 8:94
  2. Epidemiological and animal studies have reported that prenatal nicotine exposure (PNE) leads to obesity and type-2 diabetes in offspring. Central leptin-melanocortin signaling via hypothalamic arcuate proopiom...

    Authors: Jose P. Silva, Guerline Lambert, Derek van Booven and Claes Wahlestedt
    Citation: Genome Medicine 2016 8:93
  3. Malaria continues to impose a significant disease burden on low- and middle-income countries in the tropics. However, revolutionary progress over the last 3 years in nucleic acid sequencing, reverse genetics, ...

    Authors: Sebastian Kirchner, B. Joanne Power and Andrew P. Waters
    Citation: Genome Medicine 2016 8:92
  4. Ocular infections remain a major cause of blindness and morbidity worldwide. While prognosis is dependent on the timing and accuracy of diagnosis, the etiology remains elusive in ~50 % of presumed infectious u...

    Authors: Thuy Doan, Michael R. Wilson, Emily D. Crawford, Eric D. Chow, Lillian M. Khan, Kristeene A. Knopp, Brian D. O’Donovan, Dongxiang Xia, Jill K. Hacker, Jay M. Stewart, John A. Gonzales, Nisha R. Acharya and Joseph L. DeRisi
    Citation: Genome Medicine 2016 8:90

    The Erratum to this article has been published in Genome Medicine 2016 8:123

  5. Hypermethylation of transcription factor promoters bivalently marked in stem cells is a cancer hallmark. However, the biological significance of this observation for carcinogenesis is unclear given that most o...

    Authors: Andrew E. Teschendorff, Shijie C. Zheng, Andy Feber, Zhen Yang, Stephan Beck and Martin Widschwendter
    Citation: Genome Medicine 2016 8:89
  6. Cancer patients often show no or only modest benefit from a given therapy. This major problem in oncology is generally attributed to the lack of specific predictive biomarkers, yet a global measure of cancer c...

    Authors: Jordi Serra-Musach, Francesca Mateo, Eva Capdevila-Busquets, Gorka Ruiz de Garibay, Xiaohu Zhang, Raj Guha, Craig J. Thomas, Judit Grueso, Alberto Villanueva, Samira Jaeger, Holger Heyn, Miguel Vizoso, Hector Pérez, Alex Cordero, Eva Gonzalez-Suarez, Manel Esteller…
    Citation: Genome Medicine 2016 8:88
  7. The heat shock transcriptional response is essential to effective cellular function under stress. This is a highly heritable trait but the nature and extent of inter-individual variation in heat shock response...

    Authors: Peter Humburg, Narelle Maugeri, Wanseon Lee, Bert Mohr and Julian C. Knight
    Citation: Genome Medicine 2016 8:87
  8. Genome-wide association studies (GWAS) have identified hundreds of genetic variants associated with complex traits and diseases. However, elucidating the causal genes underlying GWAS hits remains challenging. ...

    Authors: Jennifer M. Whitehead Pavlides, Zhihong Zhu, Jacob Gratten, Allan F. McRae, Naomi R. Wray and Jian Yang
    Citation: Genome Medicine 2016 8:84
  9. Body mass index (BMI) has been implicated as a primary factor influencing cancer development. However, understanding the relationship between these two complex traits has been confounded by both environmental ...

    Authors: Kyle D. Halliwill, David A. Quigley, Hio Chung Kang, Reyno Del Rosario, David Ginzinger and Allan Balmain
    Citation: Genome Medicine 2016 8:83
  10. Emerging evidence suggests that the in utero environment is not sterile as once presumed. Work in the mouse demonstrated transmission of commensal bacteria from mother to fetus during gestation, though it is uncl...

    Authors: Derrick M. Chu, Kathleen M. Antony, Jun Ma, Amanda L. Prince, Lori Showalter, Michelle Moller and Kjersti M. Aagaard
    Citation: Genome Medicine 2016 8:77
  11. Accurate characterization of the repertoire of the T-cell receptor (TCR) alpha and beta chains is critical to understanding adaptive immunity. Such characterization has many applications across such fields as ...

    Authors: David Redmond, Asaf Poran and Olivier Elemento
    Citation: Genome Medicine 2016 8:80
  12. The diversity of clinical tumor profiling approaches (small panels to whole exomes with matched or unmatched germline analysis) may engender uncertainty about their benefits and liabilities, particularly in li...

    Authors: Andrea Garofalo, Lynette Sholl, Brendan Reardon, Amaro Taylor-Weiner, Ali Amin-Mansour, Diana Miao, David Liu, Nelly Oliver, Laura MacConaill, Matthew Ducar, Vanesa Rojas-Rudilla, Marios Giannakis, Arezou Ghazani, Stacy Gray, Pasi Janne, Judy Garber…
    Citation: Genome Medicine 2016 8:79
  13. Tumour necrosis factor (TNF) superfamily cytokines and their receptors regulate diverse immune system functions through a common set of signalling pathways. Genetic variants in and expression of individual TNF...

    Authors: Arianne C. Richard, James E. Peters, James C. Lee, Golnaz Vahedi, Alejandro A. Schäffer, Richard M. Siegel, Paul A. Lyons and Kenneth G. C. Smith
    Citation: Genome Medicine 2016 8:76
  14. Gut microbiome dysbiosis has been demonstrated in subjects with newly diagnosed and chronic inflammatory bowel disease (IBD). In this study we sought to explore longitudinal changes in dysbiosis and ascertain ...

    Authors: Kelly A. Shaw, Madeline Bertha, Tatyana Hofmekler, Pankaj Chopra, Tommi Vatanen, Abhiram Srivatsa, Jarod Prince, Archana Kumar, Cary Sauer, Michael E. Zwick, Glen A. Satten, Aleksandar D. Kostic, Jennifer G. Mulle, Ramnik J. Xavier and Subra Kugathasan
    Citation: Genome Medicine 2016 8:75
  15. The liver X receptors (LXRs, NR1H2 and NR1H3) and peroxisome proliferator-activated receptor gamma (PPARG, NR1C3) nuclear receptor transcription factors (TFs) are master regulators of energy homeostasis. Intri...

    Authors: Daniel Savic, Ryne C. Ramaker, Brian S. Roberts, Emma C. Dean, Todd C. Burwell, Sarah K. Meadows, Sara J. Cooper, Michael J. Garabedian, Jason Gertz and Richard M. Myers
    Citation: Genome Medicine 2016 8:74
  16. Bloodstream infections remain one of the major challenges in intensive care units, leading to sepsis or even septic shock in many cases. Due to the lack of timely diagnostic approaches with sufficient sensitiv...

    Authors: Silke Grumaz, Philip Stevens, Christian Grumaz, Sebastian O. Decker, Markus A. Weigand, Stefan Hofer, Thorsten Brenner, Arndt von Haeseler and Kai Sohn
    Citation: Genome Medicine 2016 8:73
  17. The human gut microbiota has been implicated in most aspects of health and disease; however, most of the bacteria in this community are considered unculturable, so studies have relied on molecular-based method...

    Authors: Jennifer T. Lau, Fiona J. Whelan, Isiri Herath, Christine H. Lee, Stephen M. Collins, Premysl Bercik and Michael G. Surette
    Citation: Genome Medicine 2016 8:72
  18. Medicine and healthcare are undergoing profound changes. Whole-genome sequencing and high-resolution imaging technologies are key drivers of this rapid and crucial transformation. Technological innovation comb...

    Authors: Charles Auffray, Rudi Balling, Inês Barroso, László Bencze, Mikael Benson, Jay Bergeron, Enrique Bernal-Delgado, Niklas Blomberg, Christoph Bock, Ana Conesa, Susanna Del Signore, Christophe Delogne, Peter Devilee, Alberto Di Meglio, Marinus Eijkemans, Paul Flicek…
    Citation: Genome Medicine 2016 8:71

    The Erratum to this article has been published in Genome Medicine 2016 8:118

  19. A diverse B-cell repertoire is essential for recognition and response to infectious and vaccine antigens. High-throughput sequencing of B-cell receptor (BCR) genes can now be used to study the B-cell repertoir...

    Authors: Jacob D. Galson, Johannes Trück, Elizabeth A. Clutterbuck, Anna Fowler, Vincenzo Cerundolo, Andrew J. Pollard, Gerton Lunter and Dominic F. Kelly
    Citation: Genome Medicine 2016 8:68

    The Erratum to this article has been published in Genome Medicine 2016 8:81

  20. Roux-en-Y gastric bypass (RYGB) is an effective means to achieve sustained weight loss for morbidly obese individuals. Besides rapid weight reduction, patients achieve major improvements of insulin sensitivity...

    Authors: Albert Palleja, Alireza Kashani, Kristine H. Allin, Trine Nielsen, Chenchen Zhang, Yin Li, Thorsten Brach, Suisha Liang, Qiang Feng, Nils Bruun Jørgensen, Kirstine N. Bojsen-Møller, Carsten Dirksen, Kristoffer S. Burgdorf, Jens J. Holst, Sten Madsbad, Jun Wang…
    Citation: Genome Medicine 2016 8:67
  21. Patterns in expression data conserved across multiple independent disease studies are likely to represent important molecular events underlying the disease. We present the INSPIRE method to infer modules of co...

    Authors: Safiye Celik, Benjamin A. Logsdon, Stephanie Battle, Charles W. Drescher, Mara Rendi, R. David Hawkins and Su-In Lee
    Citation: Genome Medicine 2016 8:66
  22. Expression quantitative trait loci (eQTL) analysis is a powerful method to detect correlations between gene expression and genomic variants and is widely used to interpret the biological mechanism underlying i...

    Authors: Cornelis Blauwendraat, Margherita Francescatto, J. Raphael Gibbs, Iris E. Jansen, Javier Simón-Sánchez, Dena G. Hernandez, Allissa A. Dillman, Andrew B. Singleton, Mark R. Cookson, Patrizia Rizzu and Peter Heutink
    Citation: Genome Medicine 2016 8:65
  23. Worldwide, over 350 million people are chronically infected with the hepatitis B virus (HBV) and are at increased risk of developing progressive liver diseases. The confinement of HBV replication to the liver,...

    Authors: Johannes C. Schoeman, Jun Hou, Amy C. Harms, Rob J. Vreeken, Ruud Berger, Thomas Hankemeier and Andre Boonstra
    Citation: Genome Medicine 2016 8:64
  24. Personalized therapy provides the best outcome of cancer care and its implementation in the clinic has been greatly facilitated by recent convergence of enormous progress in basic cancer research, rapid advanc...

    Authors: Andrew V. Uzilov, Wei Ding, Marc Y. Fink, Yevgeniy Antipin, Andrew S. Brohl, Claire Davis, Chun Yee Lau, Chetanya Pandya, Hardik Shah, Yumi Kasai, James Powell, Mark Micchelli, Rafael Castellanos, Zhongyang Zhang, Michael Linderman, Yayoi Kinoshita…
    Citation: Genome Medicine 2016 8:62
  25. IL-4-driven alternative macrophage activation and proliferation are characteristic features of both antihelminthic immune responses and wound healing in contrast to classical macrophage activation, which prima...

    Authors: Zsolt Czimmerer, Tamas Varga, Mate Kiss, Cesaré Ovando Vázquez, Quang Minh Doan-Xuan, Dominik Rückerl, Sudhir Gopal Tattikota, Xin Yan, Zsuzsanna S. Nagy, Bence Daniel, Szilard Poliska, Attila Horvath, Gergely Nagy, Eva Varallyay, Matthew N. Poy, Judith E. Allen…
    Citation: Genome Medicine 2016 8:63
  26. The identification of somatic mosaicism in the brain lends a new perspective to our understanding of the role of gene and environment interactions in psychiatric disease risk. Somatic mutations, such as retrot...

    Authors: Tracy A. Bedrosian, Sara Linker and Fred H. Gage
    Citation: Genome Medicine 2016 8:58
  27. Alterations in genetic and epigenetic landscapes are known to contribute to the development of different types of cancer. However, the mechanistic links between transcription factors and the epigenome which co...

    Authors: Valeriya Malysheva, Marco Antonio Mendoza-Parra, Mohamed-Ashick M. Saleem and Hinrich Gronemeyer
    Citation: Genome Medicine 2016 8:57
  28. There is increasing interest in investigating how the compositions of microbial communities are associated with human health and disease. Although existing methods have identified many associations, a proper c...

    Authors: Chong Wu, Jun Chen, Junghi Kim and Wei Pan
    Citation: Genome Medicine 2016 8:56
  29. The effects of probiotic supplementation on fecal microbiota composition in healthy adults have not been well established. We aimed to provide a systematic review of the potential evidence for an effect of pro...

    Authors: Nadja B. Kristensen, Thomas Bryrup, Kristine H. Allin, Trine Nielsen, Tue H. Hansen and Oluf Pedersen
    Citation: Genome Medicine 2016 8:52
  30. The genetic origins of chemotherapy resistance are well established; however, the role of epigenetics in drug resistance is less well understood. To investigate mechanisms of drug resistance, we performed syst...

    Authors: Colin Flinders, Larry Lam, Liudmilla Rubbi, Roberto Ferrari, Sorel Fitz-Gibbon, Pao-Yang Chen, Michael Thompson, Heather Christofk, David B Agus, Daniel Ruderman, Parag Mallick and Matteo Pellegrini
    Citation: Genome Medicine 2016 8:54
  31. The bromodomain containing 1 (BRD1) gene has been implicated with transcriptional regulation, brain development, and susceptibility to schizophrenia and bipolar disorder. To advance the understanding of BRD1 a...

    Authors: Tue Fryland, Jane H. Christensen, Jonatan Pallesen, Manuel Mattheisen, Johan Palmfeldt, Mads Bak, Jakob Grove, Ditte Demontis, Jenny Blechingberg, Hong Sain Ooi, Mette Nyegaard, Mads E. Hauberg, Niels Tommerup, Niels Gregersen, Ole Mors, Thomas J. Corydon…
    Citation: Genome Medicine 2016 8:53
  32. Bacteremia, or bloodstream infection (BSI), is a leading cause of death among patients with certain types of cancer. A previous study reported that intestinal domination, defined as occupation of at least 30 %...

    Authors: Emmanuel Montassier, Gabriel A. Al-Ghalith, Tonya Ward, Stephane Corvec, Thomas Gastinne, Gilles Potel, Philippe Moreau, Marie France de la Cochetiere, Eric Batard and Dan Knights
    Citation: Genome Medicine 2016 8:49

    The Erratum to this article has been published in Genome Medicine 2016 8:61

  33. Humans are virtually identical in their genetic makeup, yet the small differences in our DNA give rise to tremendous phenotypic diversity across the human population. By contrast, the metagenome of the human m...

    Authors: Jason Lloyd-Price, Galeb Abu-Ali and Curtis Huttenhower
    Citation: Genome Medicine 2016 8:51
  34. Obesity, type 2 diabetes, and non-alcoholic fatty liver disease (NAFLD) are serious health concerns, especially in Western populations. Antibiotic exposure and high-fat diet (HFD) are important and modifiable ...

    Authors: Douglas Mahana, Chad M. Trent, Zachary D. Kurtz, Nicholas A. Bokulich, Thomas Battaglia, Jennifer Chung, Christian L. Müller, Huilin Li, Richard A. Bonneau and Martin J. Blaser
    Citation: Genome Medicine 2016 8:48
  35. Recurrent Clostridium difficile infection (CDI) remains problematic, with up to 30 % of individuals diagnosed with primary CDI experiencing at least one episode of recurrence. The success of microbial-based thera...

    Authors: Anna Maria Seekatz, Krishna Rao, Kavitha Santhosh and Vincent Bensan Young
    Citation: Genome Medicine 2016 8:47

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