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  1. Efflux transporters like MDR1 and MRP2 may modulate the pharmacokinetics of about 50 % of all drugs. It is currently unknown how much of the variation in the activities of important drug membrane transporters ...

    Authors: Johannes Matthaei, Mladen V. Tzvetkov, Valerie Gal, Cordula Sachse-Seeboth, Daniel Sehrt, Jakob B. Hjelmborg, Ute Hofmann, Matthias Schwab, Reinhold Kerb and Jürgen Brockmöller
    Citation: Genome Medicine 2016 8:119
    Content type: Research Published on:

  2. 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 8:118
    Content type: Erratum Published on:

    The original article was published in Genome Medicine 2016 8:71

  3. To truly achieve personalized medicine in oncology, it is critical to catalog and curate cancer sequence variants for their clinical relevance. The Somatic Working Group (WG) of the Clinical Genome Resource (C...

    Authors: Deborah I. Ritter, Sameek Roychowdhury, Angshumoy Roy, Shruti Rao, Melissa J. Landrum, Dmitriy Sonkin, Mamatha Shekar, Caleb F. Davis, Reece K. Hart, Christine Micheel, Meredith Weaver, Eliezer M. Van Allen, Donald W. Parsons, Howard L. McLeod, Michael S. Watson, Sharon E. Plon…
    Citation: Genome Medicine 2016 8:117
    Content type: Research Published on:

  4. Mitochondrial presequence proteases perform fundamental functions as they process about 70 % of all mitochondrial preproteins that are encoded in the nucleus and imported posttranslationally. The mitochondrial...

    Authors: Mohammad K. Eldomery, Zeynep C. Akdemir, F.-Nora Vögtle, Wu-Lin Charng, Patrycja Mulica, Jill A. Rosenfeld, Tomasz Gambin, Shen Gu, Lindsay C. Burrage, Aisha Al Shamsi, Samantha Penney, Shalini N. Jhangiani, Holly H. Zimmerman, Donna M. Muzny, Xia Wang, Jia Tang…
    Citation: Genome Medicine 2016 8:106
    Content type: Research Published on:

  5. Smith-Magenis syndrome (SMS) is a developmental disability/multiple congenital anomaly disorder resulting from haploinsufficiency of RAI1. It is characterized by distinctive facial features, brachydactyly, sleep ...

    Authors: Maria Nicla Loviglio, Christine R. Beck, Janson J. White, Marion Leleu, Tamar Harel, Nicolas Guex, Anne Niknejad, Weimin Bi, Edward S. Chen, Isaac Crespo, Jiong Yan, Wu-Lin Charng, Shen Gu, Ping Fang, Zeynep Coban-Akdemir, Chad A. Shaw…
    Citation: Genome Medicine 2016 8:105
    Content type: Research Published on:

  6. Alzheimer’s disease (AD) is the most common form of dementia, characterized by progressive cognitive impairment and neurodegeneration. However, despite extensive clinical and genomic studies, the molecular bas...

    Authors: Minghui Wang, Panos Roussos, Andrew McKenzie, Xianxiao Zhou, Yuji Kajiwara, Kristen J. Brennand, Gabriele C. De Luca, John F. Crary, Patrizia Casaccia, Joseph D. Buxbaum, Michelle Ehrlich, Sam Gandy, Alison Goate, Pavel Katsel, Eric Schadt, Vahram Haroutunian…
    Citation: Genome Medicine 2016 8:104
    Content type: Research Published on:

  7. Precision medicine approaches are ideally suited for rare tumors where comprehensive characterization may have diagnostic, prognostic, and therapeutic value. We describe the clinical case and molecular charact...

    Authors: Filemon S. Dela Cruz, Daniel Diolaiti, Andrew T. Turk, Allison R. Rainey, Alberto Ambesi-Impiombato, Stuart J. Andrews, Mahesh M. Mansukhani, Peter L. Nagy, Mariano J. Alvarez, Andrea Califano, Farhad Forouhar, Beata Modzelewski, Chelsey M. Mitchell, Darrell J. Yamashiro, Lianna J. Marks, Julia L. Glade Bender…
    Citation: Genome Medicine 2016 8:116
    Content type: Research Published on:

  9. Homologous recombination (HR) is the primary pathway for repairing double-strand DNA breaks implicating in the development of cancer. RNAi-based knockdowns of BRCA1 and RAD51 in this pathway have been performed t...

    Authors: Yue Wang, Kenneth M. K. Mark, Matthew H. Ung, Arminja Kettenbach, Todd Miller, Wei Xu, Wenqing Cheng, Tian Xia and Chao Cheng
    Citation: Genome Medicine 2016 8:114
    Content type: Method Published on:

  10. The rise of genomically targeted therapies and immunotherapy has revolutionized the practice of oncology in the last 10–15 years. At the same time, new technologies and the electronic health record (EHR) in pa...

    Authors: Jeremy L. Warner, Sandeep K. Jain and Mia A. Levy
    Citation: Genome Medicine 2016 8:113
    Content type: Review Published on:

  14. The clinical utility of molecular profiling of tumor tissue to guide treatment of patients with advanced solid tumors is unknown. Our objectives were to evaluate the frequency of genomic alterations, clinical ...

    Authors: Tracy L. Stockley, Amit M. Oza, Hal K. Berman, Natasha B. Leighl, Jennifer J. Knox, Frances A. Shepherd, Eric X. Chen, Monika K. Krzyzanowska, Neesha Dhani, Anthony M. Joshua, Ming-Sound Tsao, Stefano Serra, Blaise Clarke, Michael H. Roehrl, Tong Zhang, Mahadeo A. Sukhai…
    Citation: Genome Medicine 2016 8:109
    Content type: Research Published on:

  15. Precision medicine (PM) can be defined as a predictive, preventive, personalized, and participatory healthcare service delivery model. Recent developments in molecular biology and information technology make P...

    Authors: Gabrielle Bertier, Jian Carrot-Zhang, Vassilis Ragoussis and Yann Joly
    Citation: Genome Medicine 2016 8:108
    Content type: Opinion Published on:

  16. In high-grade serous ovarian cancer (HGSOC), intrinsic and/or acquired resistance against platinum-containing chemotherapy is a major obstacle for successful treatment. A low frequency of somatic mutations but...

    Authors: Tushar Tomar, Steven de Jong, Nicolette G. Alkema, Rieks L. Hoekman, Gert Jan Meersma, Harry G. Klip, Ate GJ van der Zee and G. Bea A. Wisman
    Citation: Genome Medicine 2016 8:107
    Content type: Research Published on:

  17. Advances in genetic analysis have revealed new complexities in the interpretation of genetic variants. Correct assessment of a genetic variant relies on the clinical context and knowledge of the underlying bio...

    Authors: Eric Q. Konnick and Colin C. Pritchard
    Citation: Genome Medicine 2016 8:100
    Content type: Comment Published on:

  18. Nutritional interventions often fail to prevent growth failure in childhood and adolescent malnutrition and the mechanisms remain unclear. Recent studies revealed altered microbiota in malnourished children an...

    Authors: Jun Chen, Yoshitaka Toyomasu, Yujiro Hayashi, David R. Linden, Joseph H. Szurszewski, Heidi Nelson, Gianrico Farrugia, Purna C. Kashyap, Nicholas Chia and Tamas Ordog
    Citation: Genome Medicine 2016 8:103
    Content type: Research Published on:

  19. Long-term care facilities (LTCF) are potential reservoirs for methicillin-resistant Staphylococcus aureus (MRSA), control of which may reduce MRSA transmission and infection elsewhere in the healthcare system. Wh...

    Authors: Ewan M. Harrison, Catherine Ludden, Hayley J. Brodrick, Beth Blane, Gráinne Brennan, Dearbháile Morris, Francesc Coll, Sandra Reuter, Nicholas M. Brown, Mark A. Holmes, Brian O’Connell, Julian Parkhill, M. Estee Török, Martin Cormican and Sharon J. Peacock
    Citation: Genome Medicine 2016 8:102
    Content type: Research Published on:

  20. Profiling the somatic mutations of genes which may inform about tumor evolution, prognostics and treatment is becoming a standard tool in clinical oncology. Commercially available cancer gene panels rely on ma...

    Authors: Carlota Rubio-Perez, Jordi Deu-Pons, David Tamborero, Nuria Lopez-Bigas and Abel Gonzalez-Perez
    Citation: Genome Medicine 2016 8:98
    Content type: Software Published on:

  21. The genetic regulation of metabolic phenotypes (i.e., metabotypes) in type 2 diabetes mellitus occurs through complex organ-specific cellular mechanisms and networks contributing to impaired insulin secretion ...

    Authors: Marc-Emmanuel Dumas, Céline Domange, Sophie Calderari, Andrea Rodríguez Martínez, Rafael Ayala, Steven P. Wilder, Nicolas Suárez-Zamorano, Stephan C. Collins, Robert H. Wallis, Quan Gu, Yulan Wang, Christophe Hue, Georg W. Otto, Karène Argoud, Vincent Navratil, Steve C. Mitchell…
    Citation: Genome Medicine 2016 8:101
    Content type: Research Published on:

  22. Killer cell immunoglobulin-like receptors (KIRs), expressed on natural killer cells and T cells, have considerable biomedical relevance playing significant roles in immunity, pregnancy and transplantation. The KI...

    Authors: W. Jiang, C. Johnson, N. Simecek, M. R. López-Álvarez, D. Di, J. Trowsdale and J. A. Traherne
    Citation: Genome Medicine 2016 8:99
    Content type: Method Published on:

  23. The World Health Organization has declared Zika virus an international public health emergency. Knowledge of Zika virus genomic epidemiology is currently limited due to challenges in obtaining and processing s...

    Authors: Nuno Rodrigues Faria, Ester C. Sabino, Marcio R. T. Nunes, Luiz Carlos Junior Alcantara, Nicholas J. Loman and Oliver G. Pybus
    Citation: Genome Medicine 2016 8:97
    Content type: Comment Published on:

  26. 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
    Content type: Research Published on:

  27. 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
    Content type: Research Published on:

  28. 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
    Content type: Review Published on:

  30. 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
    Content type: Research Published on:

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

  31. 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
    Content type: Research Published on:

  32. 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
    Content type: Research Published on:

  33. 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
    Content type: Research Published on:

  36. 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
    Content type: Database Published on:

  37. 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
    Content type: Research Published on:

  38. 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
    Content type: Research Published on:

  41. 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
    Content type: Method Published on:

  42. 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
    Content type: Research Published on:

  44. 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
    Content type: Research Published on:

  45. 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
    Content type: Research Published on:

  46. 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
    Content type: Research Published on:

  47. 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
    Content type: Research Published on:

  48. 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
    Content type: Research Published on:

  49. 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
    Content type: Opinion Published on:

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

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Genome Medicine

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