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Personalized medicine

Section edited by Lotfi Chouchane

This section aims to provide a platform for research that will revolutionize patient care through the use of novel molecular predisposing screening, diagnostic, prognostic and pharmacogenomics. Advances in human genome research are opening the door to a new paradigm for practicing medicine that promises to transform healthcare. Personalized medicine will impact the way that medicine is practiced.

Featured articles

Pharmacogenetics driving personalized medicine: analysis of genetic polymorphisms related to breast cancer medications in Italian isolated populations
Massimiliano Cocca, et al

Anti-cytokine autoantibodies in postherpetic neuralgia
Ahmad Bayat, et al



Comprehensive molecular characterization of human adipocytes reveals a transient brown phenotype
Andrea Guennoun, et al

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  1. Pharmacogenomics (PGx) aims to utilize a patient’s genetic data to enable safer and more effective prescribing of medications. The Clinical Pharmacogenetics Implementation Consortium (CPIC) provides guidelines...

    Authors: Shefali S. Verma, Karl Keat, Binglan Li, Glenda Hoffecker, Marjorie Risman, Katrin Sangkuhl, Michelle Whirl-Carrillo, Scott Dudek, Anurag Verma, Teri E. Klein, Marylyn D. Ritchie and Sony Tuteja
    Citation: Journal of Translational Medicine 2022 20:550
    Content type: Research Published on:

  2. Previous studies on European (EUR) samples have obtained inconsistent results regarding the genetic correlation between type 2 diabetes mellitus (T2DM) and Schizophrenia (SCZ). A large-scale trans-ethnic genet...

    Authors: Lei Cai, Yanlan Sun, Yonglin Liu, Wenzhong Chen, Lin He and Dong-Qing Wei
    Citation: Journal of Translational Medicine 2022 20:501
    Content type: Research Published on:

  3. Homologous recombination deficiency (HRD) is closely associated with patient prognosis and treatment options in prostate cancer (PCa). However, there is a lack of quantitative indicators related to HRD to pred...

    Authors: Cong Luo, Zhi Liu, Yu Gan, Xiaomei Gao, Xiongbing Zu, Ye Zhang, Wenrui Ye and Yi Cai
    Citation: Journal of Translational Medicine 2022 20:313
    Content type: Research Published on:

  4. Comitant strabismus (CS) is a heterogeneous disorder that is a major contributing factor to unilateral childhood-onset visual impairment. Studies have confirmed that genetic factors play an important role in t...

    Authors: Yue Wang, Xuejuan Chen, Tao Jiang, Yayun Gu, Xiaohan Zhang, Wenwen Yuan, Andi Zhao, Rui Li, Zijin Wang, Zhibin Hu and Hu Liu
    Citation: Journal of Translational Medicine 2021 19:495
    Content type: Research Published on:

  5. Colorectal carcinoma (CRC) harboring oncogenic fusions has been reported to be highly enriched in mismatch repair deficient (dMMR) tumors with MLH1 hypermethylation (MLH1me+) and wild-type BRAF and RAS. In this s...

    Authors: Jing Wang, Ruiyu Li, Junjie Li, Yuting Yi, Xiaoding Liu, Jingci Chen, Hui Zhang, Junliang Lu, Cami Li, Huanwen Wu and Zhiyong Liang
    Citation: Journal of Translational Medicine 2021 19:433
    Content type: Research Published on:

  7. Integrating functional annotations into SNP-set association studies has been proven a powerful analysis strategy. Statistical methods for such integration have been developed for continuous and binary phenotyp...

    Authors: Haojie Lu, Yongyue Wei, Zhou Jiang, Jinhui Zhang, Ting Wang, Shuiping Huang and Ping Zeng
    Citation: Journal of Translational Medicine 2021 19:418
    Content type: Research Published on:

  9. Pancreatic ductal adenocarcinoma (PDAC) is a fatal disease with molecular heterogeneity, inducing differences in biological behavior, and therapeutic strategy. NGS profiles of pathogenic alterations in the Chi...

    Authors: Lin Shui, Xiaofen Li, Yang Peng, Jiangfang Tian, Shuangshuang Li, Du He, Ang Li, Bole Tian, Mao Li, Heli Gao, Ning An, Cheng Yi and Dan Cao
    Citation: Journal of Translational Medicine 2021 19:301
    Content type: Research Published on:

    The Correction to this article has been published in Journal of Translational Medicine 2021 19:345

  10. Infections are a major disease burden worldwide. While they are caused by external pathogens, host genetics also plays a part in susceptibility to infections. Past studies have reported diverse associations be...

    Authors: Ron Nudel, Rosa Lundbye Allesøe, Wesley K. Thompson, Thomas Werge, Simon Rasmussen and Michael E. Benros
    Citation: Journal of Translational Medicine 2021 19:230
    Content type: Research Published on:

  11. Type 1 diabetes affects millions of people globally and requires careful management to avoid serious long-term complications, including heart and kidney disease, stroke, and loss of sight. The type 1 diabetes ...

    Authors: Ammira Al-Shabeeb Akil, Esraa Yassin, Aljazi Al-Maraghi, Elbay Aliyev, Khulod Al-Malki and Khalid A. Fakhro
    Citation: Journal of Translational Medicine 2021 19:137
    Content type: Review Published on:

  12. The incidence of breast cancer (BC) and/or ovarian cancer (OC) is increasing in Tunisia especially in young women and mostly those with family history. However, the spectrum of BRCA mutations remains little explo...

    Authors: Dorra Ben Ayed-Guerfali, Wala Ben Kridis-Rejab, Nihel Ammous-Boukhris, Wajdi Ayadi, Slim Charfi, Afef Khanfir, Tahia Sellami-Boudawara, Mounir Frikha, Jamel Daoud and Raja Mokdad-Gargouri
    Citation: Journal of Translational Medicine 2021 19:108
    Content type: Research Published on:

  13. Hypertension (HTN), diabetes mellitus (DM), and dyslipidemia (DL) are well-known risk factors of cardiovascular disease (CVD), but not all patients develop CVDs. Studies have been limited investigating genetic...

    Authors: Youhyun Song, Ja-Eun Choi, Yu-Jin Kwon, Hyuk-Jae Chang, Jung Oh Kim, Da-Hyun Park, Jae-Min Park, Seong-Jin Kim, Ji Won Lee and Kyung-Won Hong
    Citation: Journal of Translational Medicine 2021 19:85
    Content type: Research Published on:

  14. Melanoma is the deadliest of skin cancers and has an increasing annual incidence worldwide. It is a multi-factorial disease most likely arising from both genetic predisposition and environmental exposure to ul...

    Authors: Clara Benna, Senthilkumar Rajendran, Giovanna Spiro, Chiara Menin, Luigi Dall’Olmo, Carlo Riccardo Rossi and Simone Mocellin
    Citation: Journal of Translational Medicine 2021 19:57
    Content type: Research Published on:

  15. Genome-wide association studies have identified thousands of disease-associated single nucleotide polymorphisms (SNPs). A subset of these SNPs may be additively combined to generate genetic risk scores (GRSs) ...

    Authors: Carly A. Conran, Zhuqing Shi, William Kyle Resurreccion, Rong Na, Brian T. Helfand, Elena Genova, Siqun Lilly Zheng, Charles B. Brendler and Jianfeng Xu
    Citation: Journal of Translational Medicine 2021 19:41
    Content type: Research Published on:

  16. Aberrant metabolism is the root cause of several serious health issues, creating a huge burden to health and leading to diminished life expectancy. A dysregulated metabolism induces the secretion of several mo...

    Authors: Murugan Subramanian, Anne Wojtusciszyn, Lucie Favre, Sabri Boughorbel, Jingxuan Shan, Khaled B. Letaief, Nelly Pitteloud and Lotfi Chouchane
    Citation: Journal of Translational Medicine 2020 18:472
    Content type: Review Published on:

  17. The outbreak of coronavirus disease (COVID-19) was caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), through its surface spike glycoprotein (S-protein) recognition on the receptor Angiote...

    Authors: Xingyi Guo, Zhishan Chen, Yumin Xia, Weiqiang Lin and Hongzhi Li
    Citation: Journal of Translational Medicine 2020 18:321
    Content type: Research Published on:

  18. Conotruncal defects (CTDs) are a type of heterogeneous congenital heart diseases (CHDs), but little is known about their etiology. Increasing evidence has demonstrated that fibroblast growth factor (FGF) 8 and...

    Authors: Shuang Zhou, Qingjie Wang, Zhuo Meng, Jiayu Peng, Yue Zhou, Wenting Song, Jian Wang, Sun Chen and Kun Sun
    Citation: Journal of Translational Medicine 2020 18:283
    Content type: Research Published on:

  19. In the context of our Regional Program of Hereditary Cancer, individuals fulfilling the criteria are tested for germline mutations to subsequently establish the clinical management. Our standard diagnostic app...

    Authors: Carolina Velázquez, Enrique Lastra, Francisco Avila Cobos, Luis Abella, Virginia de la Cruz, Blanca Ascensión Hernando, Lara Hernández, Noemí Martínez, Mar Infante and Mercedes Durán
    Citation: Journal of Translational Medicine 2020 18:232
    Content type: Research Published on:

  20. Radiation-induced oral mucositis (OM) is one of the most common acute complications for head and neck cancer. Severe OM is associated with radiation treatment breaks, which harms successful tumor management. R...

    Authors: Da-Wei Yang, Tong-Min Wang, Jiang-Bo Zhang, Xi-Zhao Li, Yong-Qiao He, Ruowen Xiao, Wen-Qiong Xue, Xiao-Hui Zheng, Pei-Fen Zhang, Shao-Dan Zhang, Ye-Zhu Hu, Guo-Ping Shen, Mingyuan Chen, Ying Sun and Wei-Hua Jia
    Citation: Journal of Translational Medicine 2020 18:224
    Content type: Research Published on:

  21. Malignant serous effusion (MSE) denotes a manifestation of metastatic disease with typical high concentrations of both cancer and immune cells, making them an ideal resource for in vitro cytologic studies. Hen...

    Authors: Cheng-Guang Wu, Francesca Chiovaro, Alessandra Curioni-Fontecedro, Ruben Casanova and Alex Soltermann
    Citation: Journal of Translational Medicine 2020 18:163
    Content type: Research Published on:

  22. Immune checkpoint inhibitors are effective in some cases of lung adenocarcinoma (LUAD). Whole-exome sequencing has revealed that the tumour mutation burden (TMB) is associated with clinical benefits among pati...

    Authors: Ying Li, Wenbin Jiang, Tianhao Li, Mengyue Li, Xin Li, Zheyang Zhang, Sainan Zhang, Yixin Liu, Wenyuan Zhao, Yunyan Gu, Lishuang Qi, Lu Ao and Zheng Guo
    Citation: Journal of Translational Medicine 2020 18:25
    Content type: Research Published on:

  23. The 18-gene tumor inflammation signature (TIS) is a clinical research assay that enriches for clinical benefit to immune checkpoint blockade. We evaluated its ability to predict clinical benefit of immunothera...

    Authors: Diane Damotte, Sarah Warren, Jennifer Arrondeau, Pascaline Boudou-Rouquette, Audrey Mansuet-Lupo, Jérôme Biton, Hanane Ouakrim, Marco Alifano, Claire Gervais, Audrey Bellesoeur, Nora Kramkimel, Camille Tlemsani, Barbara Burroni, Angéline Duche, Franck Letourneur, Han Si…
    Citation: Journal of Translational Medicine 2019 17:357
    Content type: Research Published on:

  24. Obesity is associated with an increased risk of insulin resistance and type 2 diabetes mellitus (T2DM). However, some obese individuals maintain their insulin sensitivity and exhibit a lower risk of associated...

    Authors: Haya Al-Sulaiti, Ilhame Diboun, Maha V. Agha, Fatima F. S. Mohamed, Stephen Atkin, Alex S. Dömling, Mohamed A. Elrayess and Nayef A. Mazloum
    Citation: Journal of Translational Medicine 2019 17:348
    Content type: Research Published on:

  25. Liquid biopsy based on cell-free DNA circulating in plasma has shown solid results as a non-invasive biomarker. In the present study we evaluated the utility of circulating free DNA (cfDNA) and the sub-type tu...

    Authors: Marianna Alunni-Fabbroni, Kerstin Rönsch, Thomas Huber, Clemens C. Cyran, Max Seidensticker, Julia Mayerle, Maciej Pech, Bristi Basu, Chris Verslype, Julia Benckert, Peter Malfertheiner and Jens Ricke
    Citation: Journal of Translational Medicine 2019 17:328
    Content type: Research Published on:

  26. Minimal hepatic encephalopathy (MHE) in cirrhotic patients is associated with specific changes in parameters of the immune system reflecting a more pro-inflammatory environment than in patients without MHE. Th...

    Authors: Alba Mangas-Losada, Raquel García-García, Paola Leone, María Pilar Ballester, Andrea Cabrera-Pastor, Amparo Urios, Juan-José Gallego, Juan-José Martínez-Pretel, Carla Giménez-Garzó, Fernando Revert, Desamparados Escudero-García, Joan Tosca, María Pilar Ríos, Cristina Montón, Lucia Durbán, Luis Aparicio…
    Citation: Journal of Translational Medicine 2019 17:293
    Content type: Research Published on:

  27. Pituitary adenomas are common brain tumors. Although transsphenoidal surgery are able to achieve extensive tumor removal, the rate of recurrence ranges from 5 to 20% depending on the different subtype. Further...

    Authors: Jie Feng, Hua Gao, Qi Zhang, Yang Zhou, Chuzhong Li, Sida Zhao, Lichuan Hong, Jinjin Yang, Shuyu Hao, Wan Hong, Zhengping Zhuang, Guowang Xu and Yazhuo Zhang
    Citation: Journal of Translational Medicine 2019 17:291
    Content type: Research Published on:

  28. Currently, in vivo model for personalised cancer drug testing is challenging. A zebrafish larvae xenograft model has been applied in recent years to cancer research, particularly for drug testing purposes, sho...

    Authors: Ahmed Al-Samadi, Katja Tuomainen, Anne Kivimäki, Abdelhakim Salem, Sakhr Al-Kubati, Aini Hyytiäinen, Mataleena Parikka, Karri Mesimäki, Tommy Wilkman, Antti Mäkitie, Reidar Grenman and Tuula Salo
    Citation: Journal of Translational Medicine 2019 17:235
    Content type: Research Published on:

  29. Diabetes is a chronic disease associated with many problems and high costs. In recent decades, a lot of research has been carried out in order to improve methods of treatment of diabetic patients. One of the c...

    Authors: Fouad Mehraban, Arefeh Seyedarabi, Shahin Ahmadian, Vahid Mirzaaghaei and Ali Akbar Moosavi-Movahedi
    Citation: Journal of Translational Medicine 2019 17:227
    Content type: Research Published on:

  30. The influence of DNMT3A R882 mutations on adult acute myeloid leukemia (AML) prognosis is still controversial presently. The influence of R882 allele ratio on drug response and prognosis of AML is unknown yet. Be...

    Authors: Xiao-Qing Yuan, Peng Chen, Yin-Xiao Du, Ke-Wei Zhu, Dao-Yu Zhang, Han Yan, Han Liu, Yan-Ling Liu, Shan Cao, Gan Zhou, Hui Zeng, Shu-Ping Chen, Xie-Lan Zhao, Jing Yang, Wen-Jing Zeng and Xiao-Ping Chen
    Citation: Journal of Translational Medicine 2019 17:220
    Content type: Research Published on:

  31. Rupture of an intracranial aneurysm (IA) causes a systemic response that involves an immune/inflammatory reaction. Our previous study revealed a downregulation of genes related to T lymphocytes and an upregula...

    Authors: Michal Korostynski, Marcin Piechota, Rafal Morga, Dzesika Hoinkis, Slawomir Golda, Magdalena Zygmunt, Tomasz Dziedzic, Marek Moskala, Agnieszka Slowik and Joanna Pera
    Citation: Journal of Translational Medicine 2019 17:141
    Content type: Research Published on:

  32. Over the past few years, next-generation sequencing (NGS) has become reliable and cost-effective, and its use in clinical practice has become a reality. A relevant role for NGS is the prediction of response to...

    Authors: Edoardo Isnaldi, Anna Garuti, Gabriella Cirmena, Stefano Scabini, Edoardo Rimini, Lorenzo Ferrando, Michela Lia, Roberto Murialdo, Lucia Tixi, Enrico Carminati, Andrea Panaro, Maurizio Gallo, Federica Grillo, Luca Mastracci, Lazzaro Repetto, Roberto Fiocca…
    Citation: Journal of Translational Medicine 2019 17:137
    Content type: Research Published on:

  33. The dynein axonemal heavy chain (DNAH) family of genes encode the dynein axonemal heavy chain, which is involved in cell motility. Genomic variations of DNAH family members have been frequently reported in div...

    Authors: Chunchao Zhu, Qin Yang, Jia Xu, Wenyi Zhao, Zizhen Zhang, Danhua Xu, Yeqian Zhang, Enhao Zhao and Gang Zhao
    Citation: Journal of Translational Medicine 2019 17:109
    Content type: Research Published on:

  34. SETD2, the single mediator of trimethylation of histone 3 at position lysine 36, has been reported associated with initiation progression and chemotherapy resistance in acute myeloid leukemia (AML). Whether polym...

    Authors: Suwei Wang, Xiaoqing Yuan, Yazhen Liu, Kewei Zhu, Peng Chen, Han Yan, Daoyu Zhang, Xi Li, Hui Zeng, Xielan Zhao, Xiaoping Chen, Gan Zhou and Shan Cao
    Citation: Journal of Translational Medicine 2019 17:101
    Content type: Research Published on:

  36. MET amplification is associated with acquired resistance to first-generation epidermal growth factor receptor (EGFR)-tyrosine kinase inhibitors (TKIs) in treating non-small-cell lung cancer (NSCLC); however, t...

    Authors: Wenxian Wang, Hong Wang, Peihua Lu, Zongyang Yu, Chunwei Xu, Wu Zhuang and Zhengbo Song
    Citation: Journal of Translational Medicine 2019 17:52
    Content type: Research Published on:

  37. Patients with Idiopathic membranous nephropathy (IMN) have various outcomes. The aim of this study is to construct a tool for clinicians to precisely predict outcome of IMN.

    Authors: Hu Xiaofan, Xu Jing, Gao Chenni, Wu Yifan, Yu Xialian, Lin Li, Ren Hong, Zhang Wen, Wang Weiming, Pan Xiaoxia, Xie Jingyuan and Chen Nan
    Citation: Journal of Translational Medicine 2019 17:41
    Content type: Research Published on:

  38. Among breast cancer (BC) patients, near 40% are post-menopause, and 70%–80% are hormone receptor (HR)-positive. About 30%–40% BC patients who are diagnosed as invasive carcinoma HR-positive BC would eventually...

    Authors: Jingyu Liu, Jing Li, Hui Wang, Yikai Wang, Qiongzhi He, Xuefeng Xia, Zhe-Yu Hu and Quchang Ouyang
    Citation: Journal of Translational Medicine 2019 17:27
    Content type: Research Published on:

  39. Renal transplantation is increasingly associated with the presence of comorbidity factors such as dyslipidemia which could influence the graft outcome. We hypothesized that hypercholesterolemia could affect va...

    Authors: Thomas Kerforne, Frédéric Favreau, Tackwa Khalifeh, Souleymane Maiga, Geraldine Allain, Antoine Thierry, Manuel Dierick, Edouard Baulier, Clara Steichen and Thierry Hauet
    Citation: Journal of Translational Medicine 2019 17:26
    Content type: Research Published on:

  40. In order to establish the workflows required to implement a real-time process involving multi-omic analysis of patient samples to support precision-guided therapeutic intervention, a tissue acquisition and ana...

    Authors: Zahi I. Mitri, Swapnil Parmar, Brett Johnson, Annette Kolodzie, Jamie M. Keck, Max Morris, Alexander R. Guimaraes, Brooke R. Beckett, Uma Borate, Charles D. Lopez, Kathleen A. Kemmer, Joshi J. Alumkal, Tomasz M. Beer, Christopher L. Corless, Gordon B. Mills, Joe W. Gray…
    Citation: Journal of Translational Medicine 2018 16:358
    Content type: Research Published on:

  41. Current guidelines recommend angiotensin-converting-enzyme inhibitors (ACEI) or angiotensin-receptor blockers (ARB) or β-blockers (β-B) for secondary prevention in patients after an acute myocardial infarction...

    Authors: Xuhe Gong, Xiaosong Ding, Hui Chen and Hongwei Li
    Citation: Journal of Translational Medicine 2018 16:346
    Content type: Research Published on:

  42. Dysfunction of the circadian clock and polymorphisms of some circadian genes have been linked to cancer development and progression. We investigated the relationship between circadian genes germline variation ...

    Authors: Clara Benna, Senthilkumar Rajendran, Giovanna Spiro, Saveria Tropea, Paolo Del Fiore, Carlo Riccardo Rossi and Simone Mocellin
    Citation: Journal of Translational Medicine 2018 16:338
    Content type: Research Published on:

  43. The International Federation of Pigment Cell Societies (IFPCS) held its XXIII triennial International Pigment Cell Conference (IPCC) in Denver, Colorado in August 2017. The goal of the summit was to provide a ...

    Authors: Neil F. Box, Lionel Larue, Prashiela Manga, Lluis Montoliu, Richard A. Spritz and Fabian V. Filipp
    Citation: Journal of Translational Medicine 2018 16:252
    Content type: Commentary Published on:

  44. Acute myeloid leukemia (AML) is a highly heterogeneous disease. MicroRNAs function as important biomarkers in the clinical prognosis of AML.

    Authors: Chen Yang, Tingting Shao, Huihui Zhang, Ninghan Zhang, Xiaoying Shi, Xuejiao Liu, Yao Yao, Linyan Xu, Shengyun Zhu, Jiang Cao, Hai Cheng, Zhiling Yan, Zhenyu Li, Mingshan Niu and Kailin Xu
    Citation: Journal of Translational Medicine 2018 16:267
    Content type: Research Published on:

  45. Enteroviral cardiomyopathy is a life-threatening disease, and detection of enterovirus (EV) RNA in the initial endomyocardial biopsy is associated with adverse prognosis and increased mortality. Some patients ...

    Authors: Dirk Lassner, Christine S. Siegismund, Uwe Kühl, Maria Rohde, Andrea Stroux, Felicitas Escher and Heinz-Peter Schultheiss
    Citation: Journal of Translational Medicine 2018 16:249
    Content type: Research Published on:

  46. Although precision medicine has made advances in individualized patient treatments, there needs to be continued attention on tailored population health and prevention strategies (often termed “precision popula...

    Authors: Courtney R. Lyles, Mitchell R. Lunn, Juno Obedin-Maliver and Kirsten Bibbins-Domingo
    Citation: Journal of Translational Medicine 2018 16:211
    Content type: Commentary Published on:

  47. UDP-glucuronosyltransferase 1A subfamily (UGT1A) enzymes can inactivate cytarabine (Ara-C) by glucuronidation, and thus serves as candidate genes for interindividual difference in Ara-C response. UGT1A1 is a m...

    Authors: Peng Chen, Ke-Wei Zhu, Dao-Yu Zhang, Han Yan, Han Liu, Yan-Ling Liu, Shan Cao, Gan Zhou, Hui Zeng, Shu-Ping Chen, Xie-Lan Zhao, Jing Yang and Xiao-Ping Chen
    Citation: Journal of Translational Medicine 2018 16:197
    Content type: Research Published on:

  48. Germline mutations in the BRCA-1 associated tumor protein 1 (BAP1) increase susceptibility to mesothelioma and other cancers. We describe a patient with a family history of peritoneal mesothelioma, who develop...

    Authors: Muaiad Kittaneh and Charles Berkelhammer
    Citation: Journal of Translational Medicine 2018 16:194
    Content type: Review Published on:

  49. Approximately 30% of rheumatoid arthritis (RA) patients treated with Tripterysium glycosides (TG) tablets fail to achieve clinical improvement, implying the essentiality of predictive biomarkers and tools. Her...

    Authors: Yanqiong Zhang, Hailong Wang, Xia Mao, Qiuyan Guo, Weijie Li, Xiaoyue Wang, Guangyao Li and Na Lin
    Citation: Journal of Translational Medicine 2018 16:187
    Content type: Research Published on:

  50. Carcinoma of unknown primary (CUP) is a metastatic epithelial malignancy in the absence of an identifiable primary tumour. Prognosis for patients with CUP is poor because treatment options are generally limite...

    Authors: B. Clynick, B. Dessauvagie, G. Sterrett, N. T. Harvey, R. J. N. Allcock, C. Saunders, W. Erber and K. Meehan
    Citation: Journal of Translational Medicine 2018 16:185
    Content type: Research Published on:
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