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  1. Content type: Research

    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

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  2. Content type: Research

    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

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  3. Content type: Method

    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

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  4. Content type: Review

    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

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  5. Content type: Research

    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

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  6. Content type: Opinion

    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

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  7. Content type: Research

    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

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  8. Content type: Comment

    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

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  9. Content type: Research

    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

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  10. Content type: Research

    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

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  11. Content type: Software

    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

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  12. Content type: Research

    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

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  13. Content type: Method

    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

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  14. Content type: Comment

    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

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  15. Content type: Research

    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

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  16. Content type: Research

    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

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  17. Content type: Review

    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

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  18. Content type: Research

    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

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

  19. Content type: Research

    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

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  20. Content type: Research

    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

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  21. Content type: Research

    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

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  22. Content type: Database

    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

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  23. Content type: Research

    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

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  24. Content type: Research

    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

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  25. Content type: Method

    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

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  26. Content type: Research

    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

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  27. Content type: Research

    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

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  28. Content type: Research

    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

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  29. Content type: Research

    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

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  30. Content type: Research

    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

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  31. Content type: Research

    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

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  32. Content type: Opinion

    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

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

  33. Content type: Research

    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

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

  34. Content type: Research

    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

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  35. Content type: Method

    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

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  36. Content type: Research

    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

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