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  1. Content type: Research article

    Healthcare providers increasingly use information about pathogenic variants in cancer predisposition genes, including sequence variants and large rearrangements (LRs), in medical management decisions. While se...

    Authors: Debora Mancini-DiNardo, Thaddeus Judkins, John Kidd, Ryan Bernhisel, Courtney Daniels, Krystal Brown, Kirsten Meek, Jonathan Craft, Jayson Holladay, Brian Morris and Benjamin B. Roa

    Citation: BMC Medical Genomics 2019 12:138

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  2. Content type: Research Article

    The mechanisms underlying neurodegeneration in the striatum of Huntingon’s Disease (HD) brain are currently unknown. While the striatum is massively degenerated in symptomatic individuals, which makes cellular...

    Authors: Filisia Agus, Diego Crespo, Richard H. Myers and Adam Labadorf

    Citation: BMC Medical Genomics 2019 12:137

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  3. Content type: Case report

    Unprecedented durable responses are identified in clinical studies to target the signaling of programmed cell death protein-1 (PD-1) as well as its ligand (PD-L1) in patients with squamous-cell non-small cell ...

    Authors: Cheng Fang, Chu Zhang, Wei-Qing Zhao, Wen-Wei Hu, Jun Wu and Mei Ji

    Citation: BMC Medical Genomics 2019 12:136

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  4. Content type: Research article

    Long noncoding RNAs (lncRNAs) are involved in a wide range of biological processes in tumorigenesis. However, the role of lncRNA expression in the biology, prognosis, and molecular classification of human mult...

    Authors: Minqiu Lu, Ying Hu, Yin Wu, Huixing Zhou, Yuan Jian, Ying Tian and Wenming Chen

    Citation: BMC Medical Genomics 2019 12:135

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  5. Content type: Research article

    Diabetic retinopathy (DR) is the leading cause of blindness in the working age population. Transthyretin (TTR) showed a significantly decreased concentration in DR patients and exerted a visual protective effe...

    Authors: Jun Shao, Yunbin Zhang, Guangming Fan, Yu Xin and Yong Yao

    Citation: BMC Medical Genomics 2019 12:134

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  6. Content type: Technical advance

    The amount of publicly available cancer-related “omics” data is constantly growing and can potentially be used to gain insights into the tumour biology of new cancer patients, their diagnosis and suitable trea...

    Authors: Petr V. Nazarov, Anke K. Wienecke-Baldacchino, Andrei Zinovyev, Urszula Czerwińska, Arnaud Muller, Dorothée Nashan, Gunnar Dittmar, Francisco Azuaje and Stephanie Kreis

    Citation: BMC Medical Genomics 2019 12:132

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  7. Content type: Research article

    Although APOBEC-mutational signature is found in tumor tissues of multiple cancers, how a common germline APOBEC3A/B deletion affects the mutational signature remains unclear.

    Authors: Zhishan Chen, Wanqing Wen, Jiandong Bao, Krystle L. Kuhs, Qiuyin Cai, Jirong Long, Xiao-ou Shu, Wei Zheng and Xingyi Guo

    Citation: BMC Medical Genomics 2019 12:131

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  8. Content type: Research article

    Pneumonia, sepsis, meningitis, and empyema due to Streptococcus pneumoniae is a major cause of morbidity and mortality. We provide a systemic overview of genetic variants associated with susceptibility, phenotype...

    Authors: Anne T. Kloek, Matthijs C. Brouwer and Diederik van de Beek

    Citation: BMC Medical Genomics 2019 12:130

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  9. Content type: Research article

    Genome-wide association studies (GWASs) have identified single-nucleotide polymorphisms (SNPs) that may be genetic factors underlying Alzheimer’s disease (AD). However, how these AD-associated SNPs (AD SNPs) c...

    Authors: Masataka Kikuchi, Norikazu Hara, Mai Hasegawa, Akinori Miyashita, Ryozo Kuwano, Takeshi Ikeuchi and Akihiro Nakaya

    Citation: BMC Medical Genomics 2019 12:128

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  10. Content type: Research article

    Burkholderia mallei (Bm) is a facultative intracellular bacterial pathogen causing highly-fatal glanders in solipeds and humans. The ability of Bm to thrive intracellularly is thought to be related to exploitatio...

    Authors: Sophie A. Aschenbroich, Eric R. Lafontaine, Maria Cecilia Lopez, Henry V. Baker and Robert J. Hogan

    Citation: BMC Medical Genomics 2019 12:127

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  11. Content type: Research article

    The five-year survival rate and therapeutic effect of malignant glioma is low. Identification of key/associated proteins and pathways in glioma is necessary for developing effective diagnosis and targeted ther...

    Authors: Yongqin Yin, Bo Li, Kejie Mou, Muhammad T. Khan, Aman C. Kaushik, Dongqing Wei and Yu-Juan Zhang

    Citation: BMC Medical Genomics 2019 12:125

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  12. Content type: Research article

    Non-coding RNA has been shown to participate in numerous biological and pathological processes and has attracted increasing attention in recent years. Recent studies have demonstrated that long non-coding RNA ...

    Authors: Jiangquan Liao, Jie Wang, Yongmei Liu, Jun Li and Lian Duan

    Citation: BMC Medical Genomics 2019 12:124

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  13. Content type: Research article

    Incidental and secondary findings (IFs and SFs) are subject to ongoing discussion as potential consequences of clinical exome sequencing (ES). International policy documents vary on the reporting of these find...

    Authors: Marlies Saelaert, Heidi Mertes, Tania Moerenhout, Elfride De Baere and Ignaas Devisch

    Citation: BMC Medical Genomics 2019 12:123

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  14. Content type: Research article

    Immunoglobulin A nephropathy (IgAN) is the most common primary glomerulonephritis worldwide. Recent evidence suggests that genetic factors are related to the pathogenesis of IgAN. We conducted a genome-wide as...

    Authors: Kyung Hwan Jeong, Jin Sug Kim, Yu Ho Lee, Yang Gyun Kim, Ju-Young Moon, Su Kang Kim, Sun Woo Kang, Tae Hee Kim, Sang Ho Lee and Yeong Hoon Kim

    Citation: BMC Medical Genomics 2019 12:122

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  15. Content type: Research article

    Psoriasis and atopic dermatitis are two inflammatory skin diseases with a high prevalence and a significant burden on the patients. Underlying molecular mechanisms include chronic inflammation and abnormal pro...

    Authors: Zandra C. Félix Garza, Michael Lenz, Joerg Liebmann, Gökhan Ertaylan, Matthias Born, Ilja C. W. Arts, Peter A. J. Hilbers and Natal A. W. van Riel

    Citation: BMC Medical Genomics 2019 12:121

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  16. Content type: Review

    P. falciparum malaria has been recognized as one of the prominent evolutionary selective forces of human genome that led to the emergence of multiple host protective alleles. A comprehensive understanding of the ...

    Authors: Delesa Damena, Awany Denis, Lemu Golassa and Emile R. Chimusa

    Citation: BMC Medical Genomics 2019 12:120

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  17. Content type: Correction

    Following publication of the original article [1], the authors provided an updated funding statement to the article. The updated statement is as follows:

    Authors: Yu-Chiao Chiu, Hung-I Harry Chen, Tinghe Zhang, Songyao Zhang, Aparna Gorthi, Li-Ju Wang, Yufei Huang and Yidong Chen

    Citation: BMC Medical Genomics 2019 12:119

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    The original article was published in BMC Medical Genomics 2019 12:18

  18. Content type: Research article

    Identifying molecular biomarkers characteristic of ischemic stroke has the potential to aid in distinguishing stroke cases from stroke mimicking symptoms, as well as advancing the understanding of the physiolo...

    Authors: Konstantinos Theofilatos, Aigli Korfiati, Seferina Mavroudi, Matthew C. Cowperthwaite and Max Shpak

    Citation: BMC Medical Genomics 2019 12:118

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  19. Content type: Research article

    microRNA (miRNA) is a short RNA (~ 22 nt) that regulates gene expression at the posttranscriptional level. Aberration of miRNA expressions could affect their targeting mRNAs involved in cancer-related signalin...

    Authors: Lizhong Ding, Zheyun Feng and Yongsheng Bai

    Citation: BMC Medical Genomics 2019 12:117

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  20. Content type: Case report

    Balanced structural variants are mostly described in disease with gene disruption or subtle rearrangement at breakpoints.

    Authors: Kevin Yauy, Anouck Schneider, Bee Ling Ng, Jean-Baptiste Gaillard, Satish Sati, Christine Coubes, Constance Wells, Magali Tournaire, Thomas Guignard, Pauline Bouret, David Geneviève, Jacques Puechberty, Franck Pellestor and Vincent Gatinois

    Citation: BMC Medical Genomics 2019 12:116

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  21. Content type: Technical advance

    Targeted deep sequencing is a highly effective technology to identify known and novel single nucleotide variants (SNVs) with many applications in translational medicine, disease monitoring and cancer profiling...

    Authors: Dimitrios Kleftogiannis, Marco Punta, Anuradha Jayaram, Shahneen Sandhu, Stephen Q. Wong, Delila Gasi Tandefelt, Vincenza Conteduca, Daniel Wetterskog, Gerhardt Attard and Stefano Lise

    Citation: BMC Medical Genomics 2019 12:115

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  22. Content type: Correction

    Following publication of the original article [1], it was reported that the given name of the fourteenth author was incorrectly published. The incorrect and the correct names are given below.

    Authors: Mayu O. Frank, Takahiko Koyama, Kahn Rhrissorrakrai, Nicolas Robine, Filippo Utro, Anne-Katrin Emde, Bo-Juen Chen, Kanika Arora, Minita Shah, Heather Geiger, Vanessa Felice, Esra Dikoglu, Sadia Rahman, Xiaolan Fang, Vladimir Vacic, Ewa A. Bergmann…

    Citation: BMC Medical Genomics 2019 12:114

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    The original article was published in BMC Medical Genomics 2019 12:56

  23. Content type: Research article

    Population studies suggest that genetic factors play an important role in refractive error development; however, the precise role of genetic background and the composition of the signaling pathways underlying ...

    Authors: Tatiana V. Tkatchenko, Rupal L. Shah, Takayuki Nagasaki and Andrei V. Tkatchenko

    Citation: BMC Medical Genomics 2019 12:113

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  24. Content type: Research article

    Synthetic lethal interactions (SLIs) that occur between gene pairs are exploited for cancer therapeutics. Studies in the model eukaryote yeast have identified ~ 550,000 negative genetic interactions that have ...

    Authors: Morgan W. B. Kirzinger, Frederick S. Vizeacoumar, Bjorn Haave, Cristina Gonzalez-Lopez, Keith Bonham, Anthony Kusalik and Franco J. Vizeacoumar

    Citation: BMC Medical Genomics 2019 12:112

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  25. Content type: Research

    Perturbed posttranslational modification (PTM) landscapes commonly cause pathological phenotypes. The Cancer Genome Atlas (TCGA) project profiles thousands of tumors allowing the identification of spontaneous ...

    Authors: Claire M. Simpson, Bin Zhang, Peter V. Hornbeck and Florian Gnad

    Citation: BMC Medical Genomics 2019 12(Suppl 6):109

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    This article is part of a Supplement: Volume 12 Supplement 6

  26. Content type: Research

    Genetic loss-of-function variants (LoFs) associated with disease traits are increasingly recognized as critical evidence for the selection of therapeutic targets. We integrated the analysis of genetic and clin...

    Authors: Benjamin S. Glicksberg, Letizia Amadori, Nicholas K. Akers, Katyayani Sukhavasi, Oscar Franzén, Li Li, Gillian M. Belbin, Kristin L. Akers, Khader Shameer, Marcus A. Badgeley, Kipp W. Johnson, Ben Readhead, Bruce J. Darrow, Eimear E. Kenny, Christer Betsholtz, Raili Ermel…

    Citation: BMC Medical Genomics 2019 12(Suppl 6):108

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    This article is part of a Supplement: Volume 12 Supplement 6

  27. Content type: Research

    The major histocompatibility complex class I (MHC-I) molecule is a protein complex that displays intracellular peptides to T cells, allowing the immune system to recognize and destroy infected or cancerous cel...

    Authors: Andrea Castro, Kivilcim Ozturk, Rachel Marty Pyke, Su Xian, Maurizio Zanetti and Hannah Carter

    Citation: BMC Medical Genomics 2019 12(Suppl 6):107

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    This article is part of a Supplement: Volume 12 Supplement 6

  28. Content type: Research

    Not all the mutations are equally important for the development of metastasis. What about their order? The survival of cancer cells from the primary tumour site to the secondary seeding sites depends on the oc...

    Authors: Gianluca Ascolani and Pietro Liò

    Citation: BMC Medical Genomics 2019 12(Suppl 6):106

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    This article is part of a Supplement: Volume 12 Supplement 6

  29. Content type: Research article

    Chromosomal microarray analysis has been shown to be a valuable and cost effective assay for elucidating copy number variants (CNVs) in children with intellectual disability and developmental delay (ID/DD).

    Authors: Marketa Wayhelova, Jan Smetana, Vladimira Vallova, Eva Hladilkova, Hana Filkova, Marta Hanakova, Marcela Vilemova, Petra Nikolova, Barbora Gromesova, Renata Gaillyova and Petr Kuglik

    Citation: BMC Medical Genomics 2019 12:111

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  30. Content type: Research article

    Copy Number variation (CNVs) in genes related to drug absorption, distribution, metabolism and excretion (ADME) are relevant in the interindividual variability of drug response. Studies of the CNVs in ADME gen...

    Authors: Brian Ramírez, María José Niño-Orrego, Daniel Cárdenas, Kevin Enrique Ariza, Karol Quintero, Nora Constanza Contreras Bravo, Caroll Tamayo-Agudelo, María Alejandra González, Paul Laissue and Dora Janeth Fonseca Mendoza

    Citation: BMC Medical Genomics 2019 12:110

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  31. Content type: Research

    In genome-wide association studies (GWASs), meta-analysis has been widely used to improve statistical power by combining the results of different studies. Meta-analysis can detect phenotype associated variants...

    Authors: Jieun Ka, Jaehoon Lee, Yongkang Kim, Bermseok Oh and Taesung Park

    Citation: BMC Medical Genomics 2019 12(Suppl 5):102

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    This article is part of a Supplement: Volume 12 Supplement 5

  32. Content type: Research

    Gene Expression database of Normal and Tumor tissues 2 (GENT2) is an updated version of GENT, which has provided a user-friendly search platform for gene expression patterns across different normal and tumor t...

    Authors: Seung-Jin Park, Byoung-Ha Yoon, Seon-Kyu Kim and Seon-Young Kim

    Citation: BMC Medical Genomics 2019 12(Suppl 5):101

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    This article is part of a Supplement: Volume 12 Supplement 5

  33. Content type: Research

    Recent large-scale genetic studies often involve clustered phenotypes such as repeated measurements. Compared to a series of univariate analyses of single phenotypes, an analysis of clustered phenotypes can be...

    Authors: Sungyoung Lee, Sunmee Kim, Yongkang Kim, Bermseok Oh, Heungsun Hwang and Taesung Park

    Citation: BMC Medical Genomics 2019 12(Suppl 5):100

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    This article is part of a Supplement: Volume 12 Supplement 5

  34. Content type: Research

    CoMut plot is widely used in cancer research publications as a visual summary of mutational landscapes in cancer cohorts. This summary plot can inspect gene mutation rate and sample mutation burden with their ...

    Authors: Po-Jung Huang, Hou-Hsien Lin, Chi-Ching Lee, Ling-Ya Chiu, Shao-Min Wu, Yuan-Ming Yeh, Petrus Tang, Cheng-Hsun Chiu, Ping-Chiang Lyu and Pei-Chien Tsai

    Citation: BMC Medical Genomics 2019 12(Suppl 5):99

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    This article is part of a Supplement: Volume 12 Supplement 5

  35. Content type: Research

    Dupuytren’s disease (DD) is a fibroproliferative disorder characterized by thickening and contracting palmar fascia. The exact pathogenesis of DD remains unknown.

    Authors: Junghyun Jung, Go Woon Kim, Byungjo Lee, Jong Wha J. Joo and Wonhee Jang

    Citation: BMC Medical Genomics 2019 12(Suppl 5):98

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    This article is part of a Supplement: Volume 12 Supplement 5

  36. Content type: Research

    Gene expression data is widely used for identifying subtypes of diseases such as cancer. Differentially expressed gene analysis and gene set enrichment analysis are widely used for identifying biological mecha...

    Authors: Sungjoon Park, Doyeong Hwang, Yoon Sun Yeo, Hyunggee Kim and Jaewoo Kang

    Citation: BMC Medical Genomics 2019 12(Suppl 5):97

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    This article is part of a Supplement: Volume 12 Supplement 5

  37. Content type: Research

    Gene expression profiling has benefited medicine by providing clinically relevant insights at the molecular candidate and systems levels. However, to adopt a more ‘precision’ approach that integrates individua...

    Authors: Samir Rachid Zaim, Colleen Kenost, Joanne Berghout, Francesca Vitali, Helen Hao Zhang and Yves A. Lussier

    Citation: BMC Medical Genomics 2019 12(Suppl 5):96

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    This article is part of a Supplement: Volume 12 Supplement 5

  38. Content type: Research

    Feature selection or scoring methods for the detection of biomarkers are essential in bioinformatics. Various feature selection methods have been developed for the detection of biomarkers, and several studies ...

    Authors: Sehee Wang, Hyun-Hwan Jeong and Kyung-Ah Sohn

    Citation: BMC Medical Genomics 2019 12(Suppl 5):95

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    This article is part of a Supplement: Volume 12 Supplement 5

  39. Content type: Research

    The analysis of integrated multi-omics data enables the identification of disease-related biomarkers that cannot be identified from a single omics profile. Although protein-level data reflects the cellular sta...

    Authors: Tae Rim Kim, Hyun-Hwan Jeong and Kyung-Ah Sohn

    Citation: BMC Medical Genomics 2019 12(Suppl 5):94

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    This article is part of a Supplement: Volume 12 Supplement 5

  40. Content type: Research article

    Nicolaides-Baraitser syndrome (NCBRS) is a neurodevelopmental disorder caused by pathogenic sequence variants in SMARCA2 which encodes the catalytic component of the chromatin remodeling BAF complex. Pathogenic v...

    Authors: Eric Chater-Diehl, Resham Ejaz, Cheryl Cytrynbaum, Michelle T. Siu, Andrei Turinsky, Sanaa Choufani, Sarah J. Goodman, Omar Abdul-Rahman, Melanie Bedford, Naghmeh Dorrani, Kendra Engleman, Josue Flores-Daboub, David Genevieve, Roberto Mendoza-Londono, Wendy Meschino, Laurence Perrin…

    Citation: BMC Medical Genomics 2019 12:105

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  41. Content type: Research article

    Different pathogenic germline mutations in the RET oncogene are identified in MEN 2, a hereditary syndrome characterized by medullary thyroid carcinoma (MTC) and other endocrine tumors. Although genetic predispos...

    Authors: Larissa V. Bim, Fábio C. P. Navarro, Flávia O. F. Valente, José V. Lima-Junior, Rosana Delcelo, Magnus R. Dias-da-Silva, Rui M. B. Maciel, Pedro A. F. Galante and Janete M. Cerutti

    Citation: BMC Medical Genomics 2019 12:104

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  42. Content type: Research article

    Familial adenomatous polyposis (FAP) is an autosomal dominant colorectal tumor characterized by numerous adenomatous colonic polyps that often lead to colon cancer. Although most patients with FAP harbored ger...

    Authors: Borahm Kim, Dongju Won, Mi Jang, Hoguen Kim, Jong Rak Choi, Tae Il Kim and Seung-Tae Lee

    Citation: BMC Medical Genomics 2019 12:103

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  43. Content type: Research article

    Cleft palate (CP) is the second most common congenital birth defect; however, the relationship between CP-associated genes and epigenetic regulation remains largely unknown. In this study, we investigated the ...

    Authors: Akiko Suzuki, Aimin Li, Mona Gajera, Nada Abdallah, Musi Zhang, Zhongming Zhao and Junichi Iwata

    Citation: BMC Medical Genomics 2019 12:93

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  44. Content type: Technical advance

    Patient-derived xenograft (PDX) models are in vivo models of human cancer that have been used for translational cancer research and therapy selection for individual patients. The Jackson Laboratory (JAX) PDX r...

    Authors: Xing Yi Woo, Anuj Srivastava, Joel H. Graber, Vinod Yadav, Vishal Kumar Sarsani, Al Simons, Glen Beane, Stephen Grubb, Guruprasad Ananda, Rangjiao Liu, Grace Stafford, Jeffrey H. Chuang, Susan D. Airhart, R. Krishna Murthy Karuturi, Joshy George and Carol J. Bult

    Citation: BMC Medical Genomics 2019 12:92

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  45. Content type: Research article

    A normally developed placenta is integral to a successful pregnancy. Preeclampsia (PE) and intrauterine growth restriction (IUGR) are two common pregnancy related complications that maybe a result of abnormal ...

    Authors: Zain Awamleh, Gregory B. Gloor and Victor K. M. Han

    Citation: BMC Medical Genomics 2019 12:91

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  46. Content type: Research article

    Acute myeloid leukemia (AML) is a disease with marked molecular heterogeneity and a high early death rate. Our aim was to investigate an integrated Gene expression, Mirna and miRNA-mRNA Interactions (GMI) sign...

    Authors: Mingguang Shi and Guofu Xu

    Citation: BMC Medical Genomics 2019 12:90

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  47. Content type: Research article

    Gastric emptying is impaired in patients with gastroparesis whereas it is either unchanged or accelerated in obese individuals. The goal of the current study was to identify changes in gene expression in the s...

    Authors: B. Paul Herring, Meng Chen, Plamen Mihaylov, April M. Hoggatt, Anita Gupta, Attila Nakeeb, Jennifer N. Choi and John M. Wo

    Citation: BMC Medical Genomics 2019 12:89

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  48. Content type: Research article

    The availability and generation of large amounts of genomic data has led to the development of a new paradigm in cancer treatment emphasizing a precision approach at the molecular and genomic level. Statistica...

    Authors: Joshua D. Mannheimer, Dawn L. Duval, Ashok Prasad and Daniel L. Gustafson

    Citation: BMC Medical Genomics 2019 12:87

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  49. Content type: Research article

    RNA-seq is poised to play a major role in the management of kidney transplant patients. Rigorous definition of housekeeping genes (HKG) is essential for further progress in this field. Using single genes or a ...

    Authors: Zijie Wang, Zili Lyu, Ling Pan, Gang Zeng and Parmjeet Randhawa

    Citation: BMC Medical Genomics 2019 12:86

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