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Research article   Open Access

Pivotal role of the muscle-contraction pathway in cryptorchidism and evidence for genomic connections with cardiomyopathy pathways in RASopathies

Carlo V Cannistraci, Jernej Ogorevc, Minja Zorc, Timothy Ravasi, Peter Dovc, Tanja Kunej BMC Medical Genomics 2013, 6:5 (14 February 2013)

Abstract | Provisional PDF | PubMed

Research article   Open Access Highly Accessed

Systems analysis of human brain gene expression: mechanisms for HIV-associated neurocognitive impairment and common pathways with Alzheimer's disease

Andrew J Levine, Jeremy A Miller, Paul Shapshak, Benjamin Gelman, Elyse J Singer, Charles H Hinkin, Deborah Commins, Susan Morgello, Igor Grant, Steve Horvath BMC Medical Genomics 2013, 6:4 (13 February 2013)

Abstract | Provisional PDF | PubMed |  Editor’s summary

Re-analysis of existing transcriptomic datasets from the brains of patients with HIV-associated neurocognitive impairment, using a systems biology approach, corroborates their results but also identifies possible co-expression networks linked to neurocognitive impairment in HIV and Alzheimer’s disease.

Case report   Open Access

Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6

Laura Ciocca, Cecilia Surace, Maria Cristina Digilio, Maria Cristina Roberti, Pietro Sirleto, Antonietta Lombardo, Serena Russo, Valerio Brizi, Simona Grotta, Claudio Cini, Adriano Angioni BMC Medical Genomics 2013, 6:3 (11 February 2013)

Abstract | Provisional PDF | PubMed

Research article   Open Access

Next-generation text-mining mediated generation of chemical response-specific gene sets for interpretation of gene expression data

Kristina M Hettne, André Boorsma, Dorien A M van Dartel, Jelle J Goeman, Esther de Jong, Aldert H Piersma, Rob H Stierum, Jos C Kleinjans, Jan A Kors BMC Medical Genomics 2013, 6:2 (29 January 2013)

Abstract | Full text | PDF | PubMed

Research article   Open Access Highly Accessed

Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C

Daria Grafodatskaya, Barian HY Chung, Darci T Butcher, Andrei L Turinsky, Sarah J Goodman, Sana Choufani, Yi-An Chen, Youliang Lou, Chunhua Zhao, Rageen Rajendram, Fatima E Abidi, Cindy Skinner, James Stavropoulos, Carolyn A Bondy, Jill Hamilton, Shoshana Wodak, Stephen W Scherer, Charles E Schwartz, Rosanna Weksberg BMC Medical Genomics 2013, 6:1 (28 January 2013)

Abstract | Full text | PDF | PubMed

Research article   Open Access

Subtypes of primary colorectal tumors correlate with response to targeted treatment in colorectal cell lines

Andreas Schlicker, Garry Beran, Christine M Chresta, Gael McWalter, Alison Pritchard, Susie Weston, Sarah Runswick, Sara Davenport, Kerry Heathcote, Denis Alferez Castro, George Orphanides, Tim French, Lodewyk FA Wessels BMC Medical Genomics 2012, 5:66 (31 December 2012)

Abstract | Full text | PDF | PubMed

Research article   Open Access

Mutation screen in the GWAS derived obesity gene SH2B1 including functional analyses of detected variants

Anna-Lena Volckmar, Florian Bolze, Ivonne Jarick, Nadja Knoll, André Scherag, Thomas Reinehr, Thomas Illig, Harald Grallert, Heinz-Erich Wichmann, Susanna Wiegand, Heike Biebermann, Heiko Krude, Pamela Fischer-Posovszky, Winfried Rief, Martin Wabitsch, Martin Klingenspor, Johannes Hebebrand, Anke Hinney BMC Medical Genomics 2012, 5:65 (27 December 2012)

Abstract | Full text | PDF | PubMed

Research article   Open Access

Association of genetic polymorphisms with chronic obstructive pulmonary disease in the Chinese Han population: a case–control study

Yi Guo, Yi Gong, Chunming Pan, Yanrong Qian, Guochao Shi, Qijian Cheng, Qingyun Li, Lei Ren, Qiuling Weng, Yi Chen, Ting Cheng, Liang Fan, Zhihong Jiang, Huanying Wan BMC Medical Genomics 2012, 5:64 (26 December 2012)

Abstract | Full text | PDF | PubMed

Research article   Open Access

Clinical and multiple gene expression variables in survival analysis of breast cancer: Analysis with the hypertabastic survival model

Mohammad A Tabatabai, Wayne M Eby, Nadim Nimeh, Hong Li, Karan P Singh BMC Medical Genomics 2012, 5:63 (14 December 2012)

Abstract | Full text | PDF | PubMed

Research article   Open Access

Mitochondrial proteomics of nasopharyngeal carcinoma metastasis

Jianping Liu, Xianquan Zhan, Maoyu Li, Guoqing Li, Pengfei Zhang, Zhefeng Xiao, Meiying Shao, Fang Peng, Rong Hu, Zhuchu Chen BMC Medical Genomics 2012, 5:62 (6 December 2012)

Abstract | Full text | PDF | PubMed | Cited on BioMed Central

Research article   Open Access

Adipose Co-expression networks across Finns and Mexicans identify novel triglyceride-associated genes

Blake E Haas, Steve Horvath, Kirsi H Pietiläinen, Rita M Cantor, Elina Nikkola, Daphna Weissglas-Volkov, Aila Rissanen, Mete Civelek, Ivette Cruz-Bautista, Laura Riba, Johanna Kuusisto, Jaakko Kaprio, Teresa Tusie-Luna, Markku Laakso, Carlos A Aguilar-Salinas, Päivi Pajukanta BMC Medical Genomics 2012, 5:61 (6 December 2012)

Abstract | Full text | PDF | PubMed

Research article   Open Access

Soft tissue sarcoma subtypes exhibit distinct patterns of acquired uniparental disomy

Musaffe Tuna, Zhenlin Ju, Christopher I Amos, Gordon B Mills BMC Medical Genomics 2012, 5:60 (5 December 2012)

Abstract | Full text | PDF | PubMed

Research article   Open Access

Identification and characterization of alternative exon usage linked glioblastoma multiforme survival

Ahmed Sadeque, Nicola VL Serão, Bruce R Southey, Kristin R Delfino, Sandra L Rodriguez-Zas BMC Medical Genomics 2012, 5:59 (4 December 2012)

Abstract | Full text | PDF | PubMed

Research article   Open Access

A whole blood gene expression-based signature for smoking status

Philip Beineke, Karen Fitch, Heng Tao, Michael R Elashoff, Steven Rosenberg, William E Kraus, James A Wingrove, PREDICT Investigators BMC Medical Genomics 2012, 5:58 (3 December 2012)

Abstract | Full text | PDF | PubMed

Technical advance   Open Access Highly Accessed

Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies

Fuman Jiang, Jinghui Ren, Fang Chen, Yuqiu Zhou, Jiansheng Xie, Shan Dan, Yue Su, Jianhong Xie, Baomin Yin, Wen Su, Huakun Zhang, Wei Wang, Xianghua Chai, Linhua Lin, Hui Guo, Qiyun Li, Peipei Li, Yuying Yuan, Xiaoyu Pan, Yihan Li, Lifu Liu, Huifei Chen, Zhaoling Xuan, Shengpei Chen, Chunlei Zhang, Hongyun Zhang, Zhongming Tian, Zhengyu Zhang, Hui Jiang, Lijian Zhao, Weimou Zheng, Songgang Li, Yingrui Li, Jun Wang, Jian Wang, Xiuqing Zhang et al. BMC Medical Genomics 2012, 5:57 (1 December 2012)

Abstract | Full text | PDF | PubMed

Database   Open Access

Autworks: a cross-disease network biology application for Autism and related disorders

Tristan H Nelson, Jae-Yoon Jung, Todd F DeLuca, Byron K Hinebaugh, Kristian St Gabriel, Dennis P Wall BMC Medical Genomics 2012, 5:56 (28 November 2012)

Abstract | Full text | PDF | PubMed

Research article   Open Access

An array CGH based genomic instability index (G2I) is predictive of clinical outcome in breast cancer and reveals a subset of tumors without lymph node involvement but with poor prognosis

Françoise Bonnet, Mickael Guedj, Natalie Jones, Sana Sfar, Véronique Brouste, Nabila Elarouci, Guillaume Banneau, Béatrice Orsetti, Charlotte Primois, Christine Tunon de Lara, Marc Debled, Isabelle de Mascarel, Charles Theillet, Nicolas Sévenet, Aurélien de Reynies, Gaëtan MacGrogan, Michel Longy BMC Medical Genomics 2012, 5:54 (27 November 2012)

Abstract | Full text | PDF | PubMed

Research article   Open Access

Genomic signatures characterize leukocyte infiltration in myositis muscles

Wei Zhu, Katie Streicher, Nan Shen, Brandon W Higgs, Chris Morehouse, Lydia Greenlees, Anthony A Amato, Koustubh Ranade, Laura Richman, David Fiorentino, Bahija Jallal, Steven A Greenberg, Yihong Yao BMC Medical Genomics 2012, 5:53 (21 November 2012)

Abstract | Full text | PDF | PubMed

Research article   Open Access

Genomic profiling of rectal adenoma and carcinoma by array-based comparative genomic hybridization

Zhi-Zhou Shi, Yue-Ming Zhang, Li Shang, Jia-Jie Hao, Tong-Tong Zhang, Bo-Shi Wang, Jian-Wei Liang, Xi Chen, Ying Zhang, Gui-Qi Wang, Ming-Rong Wang, Yu Zhang BMC Medical Genomics 2012, 5:52 (16 November 2012)

Abstract | Full text | PDF | PubMed

Research article   Open Access

Cell Line Derived Multi-Gene Predictor of Pathologic Response to Neoadjuvant Chemotherapy in Breast Cancer: A Validation Study on US Oncology 02-103 Clinical Trial

Kui Shen, Yuan Qi, Nan Song, Chunqiao Tian, Shara D Rice, Michael J Gabrin, Stacey L Brower, William Fraser Symmans, Joyce A O’Shaughnessy, Frankie A Holmes, Lina Asmar, Lajos Pusztai BMC Medical Genomics 2012, 5:51 (16 November 2012)

Abstract | Full text | PDF | PubMed

Review   Open Access Highly Accessed

Completion of the swine genome will simplify the production of swine as a large animal biomedical model

Eric M Walters, Eckhard Wolf, Jeffery J Whyte, Jiude Mao, Simone Renner, Hiroshi Nagashima, Eiji Kobayashi, Jianguo Zhao, Kevin D Wells, John K Critser, Lela K Riley, Randall S Prather BMC Medical Genomics 2012, 5:55 (15 November 2012)

Abstract | Full text | PDF | PubMed |  Editor’s summary

Eric M Walters and colleagues review the pig as a large animal biomedical model and how the publication of the swine genome sequence will further advance its utility for understanding human disease, transgenesis and xenotransplantation.

Research article   Open Access Highly Accessed

A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective

Whitney L Wooderchak-Donahue, Brendan O’Fallon, Larissa V Furtado, Jacob D Durtschi, Parker Plant, Perry G Ridge, Alan F Rope, Angela T Yetman, Pinar Bayrak-Toydemir BMC Medical Genomics 2012, 5:50 (14 November 2012)

Abstract | Full text | PDF | PubMed

Research article   Open Access

Correlations of gene expression with ratings of inattention and hyperactivity/impulsivity in tourette syndrome: a pilot study

Yingfang Tian, Boryana Stamova, Bradley P Ander, Glen C Jickling, Joan R Gunther, Blythe A Corbett, Netty GP Bos-Veneman, Pieter J Hoekstra, Julie B Schweitzer, Frank R Sharp BMC Medical Genomics 2012, 5:49 (30 October 2012)

Abstract | Full text | PDF | PubMed

Research article   Open Access

Integrative analysis of neuroblastoma and pheochromocytoma genomics data

Peter M Szabó, Miklós Pintér, Diana Szabó, Adrienn Zsippai, Attila Patócs, András Falus, Károly Rácz, Peter Igaz BMC Medical Genomics 2012, 5:48 (29 October 2012)

Abstract | Full text | PDF | PubMed

Research article   Open Access

Histotype-specific copy-number alterations in ovarian cancer

Ruby YunJu Huang, Geng Bo Chen, Noriomi Matsumura, Hung-Cheng Lai, Seiichi Mori, Jingjing Li, Meng Kang Wong, Ikuo Konishi, Jean-Paul Thiery, Liang Goh BMC Medical Genomics 2012, 5:47 (18 October 2012)

Abstract | Full text | PDF | PubMed

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