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Volume 12;  2019

Case Reports

Co-occurrence of genomic imbalances on Xp22.1 in the SHOX region and 15q25.2 in a girl with short stature, precocious puberty, urogenital malformations and bone anomalies
Alice Monzani, Deepak Babu, Simona Mellone, Giulia Genoni, Antonella Fanelli, Flavia Prodam, Simonetta Bellone, Mara Giordano
BMC Med Genomics. 2019; 12: 5. Published online 2019 Jan 9. doi: 10.1186/s12920-018-0445-8
PMCID:
PMC6327496
Article PubReader PDF–1.1MCite
Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report
Magdalena Danyel, Eun Kyung Suk, Vera Raile, Jutta Gellermann, Alexej Knaus, Denise Horn
BMC Med Genomics. 2019; 12: 6. Published online 2019 Jan 10. doi: 10.1186/s12920-018-0471-6
PMCID:
PMC6327553
Article PubReader PDF–1.6MCite
Familial inheritance of the 3q29 microdeletion syndrome: case report and review
Wahab A. Khan, Ninette Cohen, Stuart A. Scott, Elaine M. Pereira
BMC Med Genomics. 2019; 12: 51. Published online 2019 Mar 18. doi: 10.1186/s12920-019-0497-4
PMCID:
PMC6421695
Article PubReader PDF–2.8MCite
Next-generation sequencing for identifying a novel/de novo pathogenic variant in a Mexican patient with cystic fibrosis: a case report
Angélica Martínez-Hernández, Julieta Larrosa, Francisco Barajas-Olmos, Humberto García-Ortíz, Elvia C. Mendoza-Caamal, Cecilia Contreras-Cubas, Elaheh Mirzaeicheshmeh, José Luis Lezana, Lorena Orozco
BMC Med Genomics. 2019; 12: 68. Published online 2019 May 22. doi: 10.1186/s12920-019-0528-1
PMCID:
PMC6532186
Article PubReader PDF–1012KCite
Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report
Caroline Lekszas, Indrajit Nanda, Barbara Vona, Julia Böck, Farah Ashrafzadeh, Nahid Donyadideh, Farnoosh Ebrahimzadeh, Najmeh Ahangari, Reza Maroofian, Ehsan Ghayoor Karimiani, Thomas Haaf
BMC Med Genomics. 2019; 12: 83. Published online 2019 Jun 7. doi: 10.1186/s12920-019-0539-y
PMCID:
PMC6555757
Article PubReader PDF–1.7MCite
Prenatal identification of partial 3q duplication syndrome
Magdalena Pasińska, Rafał Adamczak, Anna Repczyńska, Ewelina Łazarczyk, Barbara Iskra, Agata Klaudia Runge, Olga Haus
BMC Med Genomics. 2019; 12: 85. Published online 2019 Jun 13. doi: 10.1186/s12920-019-0547-y
PMCID:
PMC6567560
Article PubReader PDF–1.3MCite
Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report
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, Vincent Gatinois
BMC Med Genomics. 2019; 12: 116. Published online 2019 Aug 2. doi: 10.1186/s12920-019-0558-8
PMCID:
PMC6679470
Article PubReader PDF–2.3MCite
Co-mutations of TP53 and KRAS serve as potential biomarkers for immune checkpoint blockade in squamous-cell non-small cell lung cancer: a case report
Cheng Fang, Chu Zhang, Wei-Qing Zhao, Wen-Wei Hu, Jun Wu, Mei Ji
BMC Med Genomics. 2019; 12: 136. Published online 2019 Oct 16. doi: 10.1186/s12920-019-0592-6
PMCID:
PMC6794845
Article PubReader PDF–2.0MCite
Clinical, cytogenetic, and molecular findings in a patient with ring chromosome 4: case report and literature review
César Paz-y-Miño, Ana Proaño, Stella D. Verdezoto, Juan Luis García, Jesús María Hernández-Rivas, Paola E. Leone
BMC Med Genomics. 2019; 12: 167. Published online 2019 Nov 21. doi: 10.1186/s12920-019-0614-4
PMCID:
PMC7087353
Article PubReader PDF–1.4MCite
A female patient with retinoblastoma and severe intellectual disability carrying an X;13 balanced translocation without rearrangement in the RB1 gene: a case report
Makiko Tsutsumi, Hiroyoshi Hattori, Nobuhiro Akita, Naoko Maeda, Toshinobu Kubota, Keizo Horibe, Naoko Fujita, Miki Kawai, Yasuko Shinkai, Maki Kato, Takema Kato, Rie Kawamura, Fumihiko Suzuki, Hiroki Kurahashi
BMC Med Genomics. 2019; 12: 182. Published online 2019 Dec 5. doi: 10.1186/s12920-019-0640-2
PMCID:
PMC6896736
Article PubReader PDF–1.8MCite
Karyotyping and prenatal diagnosis of 47,XX,+ 8[67]/46,XX [13] Mosaicism: case report and literature review
Shaohua Sun, Fang Zhan, Jiusheng Jiang, Xuerui Zhang, Lei Yan, Weiyi Cai, Hailiang Liu, Donghua Cao
BMC Med Genomics. 2019; 12: 197. Published online 2019 Dec 21. doi: 10.1186/s12920-019-0639-8
PMCID:
PMC6925423
Article PubReader PDF–1.5MCite

Debate

Potential risks and solutions for sharing genome summary data from African populations
Nicki Tiffin
BMC Med Genomics. 2019; 12: 152. Published online 2019 Nov 4. doi: 10.1186/s12920-019-0604-6
PMCID:
PMC6830006
Article PubReader PDF–487KCite

Research Articles

Comparison of DNA methylation profiles associated with spontaneous preterm birth in placenta and cord blood
Xi-Meng Wang, Fu-Ying Tian, Li-Jun Fan, Chuan-Bo Xie, Zhong-Zheng Niu, Wei-Qing Chen
BMC Med Genomics. 2019; 12: 1. Published online 2019 Jan 3. doi: 10.1186/s12920-018-0466-3
PMCID:
PMC6318854
Article PubReader PDF–1.4MCite
Meta-analysis of gene expression profiles in long-term non-progressors infected with HIV-1
Sun Young Lee, Yong Kwang Park, Cheol-Hee Yoon, Kisoon Kim, Kyung-Chang Kim
BMC Med Genomics. 2019; 12: 3. Published online 2019 Jan 9. doi: 10.1186/s12920-018-0443-x
PMCID:
PMC6325803
Article PubReader PDF–2.7MCite
Association between changes in gene signatures expression and disease activity among patients with systemic lupus erythematosus
Michelle Petri, Wei Fu, Ann Ranger, Norm Allaire, Patrick Cullen, Laurence S. Magder, Yuji Zhang
BMC Med Genomics. 2019; 12: 4. Published online 2019 Jan 9. doi: 10.1186/s12920-018-0468-1
PMCID:
PMC6327466
Article PubReader PDF–734KCite
Regulatory network analysis reveals the oncogenesis roles of feed-forward loops and therapeutic target in T-cell acute lymphoblastic leukemia
Mengxuan Xia, Qiong Zhang, Mei Luo, Pan Li, Yingxue Wang, Qian Lei, An-Yuan Guo
BMC Med Genomics. 2019; 12: 8. Published online 2019 Jan 15. doi: 10.1186/s12920-018-0469-0
PMCID:
PMC6332896
Article PubReader PDF–1.9MCite
Matrix association region/scaffold attachment region: the crucial player in defining the positions of chromosome breaks mediated by bile acid-induced apoptosis in nasopharyngeal epithelial cells
Sang-Nee Tan, Sai-Peng Sim
BMC Med Genomics. 2019; 12: 9. Published online 2019 Jan 15. doi: 10.1186/s12920-018-0465-4
PMCID:
PMC6334432
Article PubReader PDF–1.4MCite
A novel gene selection algorithm for cancer classification using microarray datasets
Russul Alanni, Jingyu Hou, Hasseeb Azzawi, Yong Xiang
BMC Med Genomics. 2019; 12: 10. Published online 2019 Jan 15. doi: 10.1186/s12920-018-0447-6
PMCID:
PMC6334429
Article PubReader PDF–2.7MCite
The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population
Nadine Jalkh, Sandra Corbani, Zahraa Haidar, Nadine Hamdan, Elias Farah, Joelle Abou Ghoch, Rouba Ghosn, Nabiha Salem, Ali Fawaz, Claudia Djambas Khayat, Mariam Rajab, Chebl Mourani, Adib Moukarzel, Simon Rassi, Bernard Gerbaka, Hicham Mansour, Malek Baassiri, Rawane Dagher, David Breich, André Mégarbané, Jean Pierre Desvignes, Valérie Delague, Cybel Mehawej, Eliane Chouery
BMC Med Genomics. 2019; 12: 11. Published online 2019 Jan 21. doi: 10.1186/s12920-019-0474-y
PMCID:
PMC6341681
Article PubReader PDF–4.8MCite
Identification of sequence variants associated with severe microtia-astresia by targeted sequencing
Pu Wang, Yibei Wang, Xinmiao Fan, Yaping Liu, Yue Fan, Tao Liu, Chongjian Chen, Shuyang Zhang, Xiaowei Chen
BMC Med Genomics. 2019; 12: 28. Published online 2019 Jan 28. doi: 10.1186/s12920-019-0475-x
PMCID:
PMC6348636
Article PubReader PDF–2.6MCite
Glucocorticoid-driven transcriptomes in human airway epithelial cells: commonalities, differences and functional insight from cell lines and primary cells
Mahmoud M. Mostafa, Christopher F. Rider, Suharsh Shah, Suzanne L. Traves, Paul M. K. Gordon, Anna Miller-Larsson, Richard Leigh, Robert Newton
BMC Med Genomics. 2019; 12: 29. Published online 2019 Jan 31. doi: 10.1186/s12920-018-0467-2
PMCID:
PMC6357449
Article PubReader PDF–3.6MCite
Chromosome (re)positioning in spermatozoa of fathers and sons – carriers of reciprocal chromosome translocation (RCT)
Marta Olszewska, Ewa Wiland, Nataliya Huleyuk, Monika Fraczek, Alina T. Midro, Danuta Zastavna, Maciej Kurpisz
BMC Med Genomics. 2019; 12: 30. Published online 2019 Feb 1. doi: 10.1186/s12920-018-0470-7
PMCID:
PMC6359769
Article PubReader PDF–2.7MCite
Complex structural rearrangements are present in high-grade dysplastic Barrett’s oesophagus samples
Felicity Newell, Kalpana Patel, Michael Gartside, Lutz Krause, Sandra Brosda, Lauren G. Aoude, Kelly A. Loffler, Vanessa F. Bonazzi, Ann-Marie Patch, Stephen H. Kazakoff, Oliver Holmes, Qinying Xu, Scott Wood, Conrad Leonard, Guy Lampe, Reginald V. Lord, David C. Whiteman, John V. Pearson, Katia Nones, Nicola Waddell, Andrew P. Barbour
BMC Med Genomics. 2019; 12: 31. Published online 2019 Feb 4. doi: 10.1186/s12920-019-0476-9
PMCID:
PMC6360790
Article PubReader PDF–2.4MCite
Transcriptomic and ChIP-sequence interrogation of EGFR signaling in HER2+ breast cancer cells reveals a dynamic chromatin landscape and S100 genes as targets
Miguel Nava, Pranabananda Dutta, Nathan R. Zemke, Robin Farias-Eisner, Jaydutt V. Vadgama, Yanyuan Wu
BMC Med Genomics. 2019; 12: 32. Published online 2019 Feb 8. doi: 10.1186/s12920-019-0477-8
PMCID:
PMC6368760
Article PubReader PDF–4.2MCite
Non-familial cardiomyopathies in Lebanon: exome sequencing results for five idiopathic cases
Marwan M. Refaat, Sylvana Hassanieh, Jad A. Ballout, Patrick Zakka, Mostafa Hotait, Athar Khalil, Fadi Bitar, Mariam Arabi, Samir Arnaout, Hadi Skouri, Antoine Abchee, Bernard Abi-Saleh, Maurice Khoury, Andreas Massouras, Georges Nemer
BMC Med Genomics. 2019; 12: 33. Published online 2019 Feb 14. doi: 10.1186/s12920-019-0478-7
PMCID:
PMC6375196
Article PubReader PDF–586KCite
Early gut microbiota signature of aGvHD in children given allogeneic hematopoietic cell transplantation for hematological disorders
Elena Biagi, Daniele Zama, Simone Rampelli, Silvia Turroni, Patrizia Brigidi, Clarissa Consolandi, Marco Severgnini, Eleonora Picotti, Pietro Gasperini, Pietro Merli, Nunzia Decembrino, Marco Zecca, Simone Cesaro, Maura Faraci, Arcangelo Prete, Franco Locatelli, Andrea Pession, Marco Candela, Riccardo Masetti
BMC Med Genomics. 2019; 12: 49. Published online 2019 Mar 7. doi: 10.1186/s12920-019-0494-7
PMCID:
PMC6404274
Article PubReader PDF–1.1MCite
Long contiguous stretches of homozygosity detected by chromosomal microarrays (CMA) in patients with neurodevelopmental disorders in the South of Brazil
Tiago Fernando Chaves, Luan Freitas Oliveira, Maristela Ocampos, Ingrid Tremel Barbato, Gisele Rozone de Luca, Jorge Humbeto Barbato Filho, Louise Lapagesse de Camargo Pinto, Pricila Bernardi, Angelica Francesca Maris
BMC Med Genomics. 2019; 12: 50. Published online 2019 Mar 12. doi: 10.1186/s12920-019-0496-5
PMCID:
PMC6417136
Article PubReader PDF–1.1MCite
Transcriptomic analysis of fetal membranes reveals pathways involved in preterm birth
Silvana Pereyra, Claudio Sosa, Bernardo Bertoni, Rossana Sapiro
BMC Med Genomics. 2019; 12: 53. Published online 2019 Apr 1. doi: 10.1186/s12920-019-0498-3
PMCID:
PMC6444860
Article PubReader PDF–1.7MCite
Genes CEP55, FOXD3, FOXF2, GNAO1, GRIA4, and KCNA5 as potential diagnostic biomarkers in colorectal cancer
Nina Hauptman, Daša Jevšinek Skok, Elena Spasovska, Emanuela Boštjančič, Damjan Glavač
BMC Med Genomics. 2019; 12: 54. Published online 2019 Apr 15. doi: 10.1186/s12920-019-0501-z
PMCID:
PMC6466812
Article PubReader PDF–4.6MCite
Young adults’ attitudes to sharing whole-genome sequencing information: a university-based survey
Pepita Barnard, Sarah Sharples, Brian J. Thomson, Jonathan M. Garibaldi
BMC Med Genomics. 2019; 12: 55. Published online 2019 Apr 16. doi: 10.1186/s12920-019-0499-2
PMCID:
PMC6469029
Article PubReader PDF–928KCite
Sequencing and curation strategies for identifying candidate glioblastoma treatments
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, Alice Fang, Vladimir Vacic, Ewa A. Bergmann, Julia L. Moore Vogel, Catherine Reeves, Depinder Khaira, Anthony Calabro, Duyang Kim, Michelle F. Lamendola-Essel, Cecilia Esteves, Phaedra Agius, Christian Stolte, John Boockvar, Alexis Demopoulos, Dimitris G. Placantonakis, John G. Golfinos, Cameron Brennan, Jeffrey Bruce, Andrew B. Lassman, Peter Canoll, Christian Grommes, Mariza Daras, Eli Diamond, Antonio Omuro, Elena Pentsova, Dana E. Orange, Stephen J. Harvey, Jerome B. Posner, Vanessa V. Michelini, Vaidehi Jobanputra, Michael C. Zody, John Kelly, Laxmi Parida, Kazimierz O. Wrzeszczynski, Ajay K. Royyuru, Robert B. Darnell
BMC Med Genomics. 2019; 12: 56. Published online 2019 Apr 25. doi: 10.1186/s12920-019-0500-0
Correction in:
BMC Med Genomics. 2019; 12: 114.
PMCID:
PMC6485090
Article PubReader PDF–2.4MCite
LncRNA-miRNA-mRNA expression variation profile in the urine of calcium oxalate stone patients
Xiongfa Liang, Yongchang Lai, Weizhou Wu, Dong Chen, Fangling Zhong, Jian Huang, Tao Zeng, Xiaolu Duan, Yapeng Huang, Shike Zhang, Shujue Li, Wenqi Wu
BMC Med Genomics. 2019; 12: 57. Published online 2019 Apr 29. doi: 10.1186/s12920-019-0502-y
PMCID:
PMC6489260
Article PubReader PDF–2.5MCite
Structural variation of centromeric endogenous retroviruses in human populations and their impact on cutaneous T-cell lymphoma, Sézary syndrome, and HIV infection
Mark H. Kaplan, Mark Kaminski, Judith M. Estes, Scott D. Gitlin, Joseph Zahn, James T. Elder, Trilokraj Tejasvi, Elizabeth Gensterblum, Amr H. Sawalha, Joseph Patrick McGowan, Michael H. Dosik, Haner Direskeneli, Guher Saruhan Direskeneli, Sally N. Adebamowo, Clement A. Adebamowo, Mohammad Sajadi, Rafael Contreras-Galindo
BMC Med Genomics. 2019; 12: 58. Published online 2019 May 2. doi: 10.1186/s12920-019-0505-8
PMCID:
PMC6498702
Article PubReader PDF–2.3MCite
Systematic characterization of germline variants from the DiscovEHR study endometrial carcinoma population
Jason E. Miller, Raghu P. Metpally, Thomas N. Person, Sarathbabu Krishnamurthy, Venkata Ramesh Dasari, Manu Shivakumar, Daniel R. Lavage, Adam M. Cook, David J. Carey, Marylyn D. Ritchie, Dokyoon Kim, Radhika Gogoi, on behalf of the DiscovEHR collaboration
BMC Med Genomics. 2019; 12: 59. Published online 2019 May 3. doi: 10.1186/s12920-019-0504-9
Correction in:
BMC Med Genomics. 2019; 12: 65.
PMCID:
PMC6499978
Article PubReader PDF–1.5MCite
Alternative cleavage and polyadenylation of genes associated with protein turnover and mitochondrial function are deregulated in Parkinson’s, Alzheimer’s and ALS disease
Radhika Patel, Cillian Brophy, Mark Hickling, Jonathan Neve, André Furger
BMC Med Genomics. 2019; 12: 60. Published online 2019 May 9. doi: 10.1186/s12920-019-0509-4
PMCID:
PMC6507032
Article PubReader PDF–2.2MCite
Identification of potential biomarkers for diagnosis of pancreatic and biliary tract cancers by sequencing of serum microRNAs
Kwondo Kim, DongAhn Yoo, Hee Seung Lee, Kyong Joo Lee, Soo Been Park, Chanyang Kim, Jung Hyun Jo, Dawoon E. Jung, Si Young Song
BMC Med Genomics. 2019; 12: 62. Published online 2019 May 16. doi: 10.1186/s12920-019-0521-8
PMCID:
PMC6524273
Article PubReader PDF–804KCite
NeoMutate: an ensemble machine learning framework for the prediction of somatic mutations in cancer
Irantzu Anzar, Angelina Sverchkova, Richard Stratford, Trevor Clancy
BMC Med Genomics. 2019; 12: 63. Published online 2019 May 16. doi: 10.1186/s12920-019-0508-5
PMCID:
PMC6524241
Article PubReader PDF–3.0MCite
Impact of cancer mutational signatures on transcription factor motifs in the human genome
Calvin Wing Yiu Chan, Zuguang Gu, Matthias Bieg, Roland Eils, Carl Herrmann
BMC Med Genomics. 2019; 12: 64. Published online 2019 May 20. doi: 10.1186/s12920-019-0525-4
PMCID:
PMC6528224
Article PubReader PDF–5.2MCite
Transcriptional consequences of impaired immune cell responses induced by cystic fibrosis plasma characterized via dual RNA sequencing
Justin E. Ideozu, Vittobai Rangaraj, Hiam Abdala-Valencia, Xi Zhang, Manoj Kandpal, Marc A. Sala, Ramana V. Davuluri, Hara Levy
BMC Med Genomics. 2019; 12: 66. Published online 2019 May 22. doi: 10.1186/s12920-019-0529-0
PMCID:
PMC6532208
Article PubReader PDF–2.7MCite
Integrated high-throughput analysis identifies super enhancers associated with chemoresistance in SCLC
Jiarong Bao, Man Li, Shumei Liang, Yunchu Yang, Jingfang Wu, Qingqing Zou, Shun Fang, Size Chen, Linlang Guo
BMC Med Genomics. 2019; 12: 67. Published online 2019 May 22. doi: 10.1186/s12920-019-0520-9
PMCID:
PMC6532255
Article PubReader PDF–2.9MCite
Exploiting orthology and de novo transcriptome assembly to refine target sequence information
Julia F. Söllner, Germán Leparc, Matthias Zwick, Tanja Schönberger, Tobias Hildebrandt, Kay Nieselt, Eric Simon
BMC Med Genomics. 2019; 12: 69. Published online 2019 May 23. doi: 10.1186/s12920-019-0524-5
PMCID:
PMC6533699
Article PubReader PDF–1.9MCite
MicroRNA-655-3p and microRNA-497-5p inhibit cell proliferation in cultured human lip cells through the regulation of genes related to human cleft lip
Mona Gajera, Neha Desai, Akiko Suzuki, Aimin Li, Musi Zhang, Goo Jun, Peilin Jia, Zhongming Zhao, Junichi Iwata
BMC Med Genomics. 2019; 12: 70. Published online 2019 May 23. doi: 10.1186/s12920-019-0535-2
PMCID:
PMC6533741
Article PubReader PDF–994KCite
Histamine H4 receptor gene polymorphisms: a potential contributor to Meniere disease
Danxia Qin, Han Zhang, Jiehua Wang, Zhuquan Hong
BMC Med Genomics. 2019; 12: 71. Published online 2019 May 27. doi: 10.1186/s12920-019-0533-4
PMCID:
PMC6537354
Article PubReader PDF–567KCite
DNA methylation screening after roux-en Y gastric bypass reveals the epigenetic signature stems from genes related to the surgery per se
C. F. Nicoletti, M. A. S. Pinhel, A. Diaz-Lagares, F. F. Casanueva, A. Jácome, V. C. Pinhanelli, B. A. P. de Oliveira, A. B. Crujeiras, C. B. Nonino
BMC Med Genomics. 2019; 12: 72. Published online 2019 May 27. doi: 10.1186/s12920-019-0522-7
PMCID:
PMC6537208
Article PubReader PDF–1.5MCite
Comprehensive analysis of key genes and microRNAs in radioresistant nasopharyngeal carcinoma
Ya Guo, Yang Zhang, Shu Juan Zhang, Yi Nan Ma, Yun He
BMC Med Genomics. 2019; 12: 73. Published online 2019 May 28. doi: 10.1186/s12920-019-0507-6
PMCID:
PMC6537399
Article PubReader PDF–3.8MCite
DNA methylation status of TBX20 in patients with tetralogy of Fallot
Juan Gong, Wei Sheng, Duan Ma, Guoying Huang, Fang Liu
BMC Med Genomics. 2019; 12: 75. Published online 2019 May 28. doi: 10.1186/s12920-019-0534-3
PMCID:
PMC6540552
Article PubReader PDF–1.2MCite
Increased diagnostic yield by reanalysis of data from a hearing loss gene panel
Yu Sun, Jiale Xiang, Yidong Liu, Sen Chen, Jintao Yu, Jiguang Peng, Zijing Liu, Lisha Chen, Jun Sun, Yun Yang, Yaping Yang, Yulin Zhou, Zhiyu Peng
BMC Med Genomics. 2019; 12: 76. Published online 2019 May 28. doi: 10.1186/s12920-019-0531-6
PMCID:
PMC6540452
Article PubReader PDF–633KCite
Transient multifocal genomic crisis creating chromothriptic and non-chromothriptic rearrangements in prezygotic testicular germ cells
Atsushi Hattori, Kohji Okamura, Yumiko Terada, Rika Tanaka, Yuko Katoh-Fukui, Yoichi Matsubara, Keiko Matsubara, Masayo Kagami, Reiko Horikawa, Maki Fukami
BMC Med Genomics. 2019; 12: 77. Published online 2019 May 28. doi: 10.1186/s12920-019-0526-3
PMCID:
PMC6540402
Article PubReader PDF–1.4MCite
Single-cell RNA sequencing reveals the impact of chromosomal instability on glioblastoma cancer stem cells
Yanding Zhao, Robert Carter, Sivaraman Natarajan, Frederick S. Varn, Duane A. Compton, Charles Gawad, Chao Cheng, Kristina M. Godek
BMC Med Genomics. 2019; 12: 79. Published online 2019 May 31. doi: 10.1186/s12920-019-0532-5
PMCID:
PMC6545015
Article PubReader PDF–3.3MCite
Hepatic transcriptomic signatures of statin treatment are associated with impaired glucose homeostasis in severely obese patients
Daniel Margerie, Philippe Lefebvre, Violeta Raverdy, Uwe Schwahn, Hartmut Ruetten, Philip Larsen, Alain Duhamel, Julien Labreuche, Dorothée Thuillier, Bruno Derudas, Céline Gheeraert, Hélène Dehondt, Quentin Dhalluin, Jérémy Alexandre, Robert Caiazzo, Pamela Nesslany, Helene Verkindt, François Pattou, Bart Staels
BMC Med Genomics. 2019; 12: 80. Published online 2019 Jun 3. doi: 10.1186/s12920-019-0536-1
PMCID:
PMC6545676
Article PubReader PDF–1.3MCite
African KhoeSan ancestry linked to high-risk prostate cancer
Desiree C. Petersen, Weerachai Jaratlerdsiri, Abraham van Wyk, Eva K. F. Chan, Pedro Fernandez, Ruth J. Lyons, Shingai B. A. Mutambirw, Andre van der Merwe, Philip A. Venter, William Bates, M. S. Riana Bornman, Vanessa M. Hayes
BMC Med Genomics. 2019; 12: 82. Published online 2019 Jun 4. doi: 10.1186/s12920-019-0537-0
PMCID:
PMC6549381
Article PubReader PDF–1.5MCite
Comprehensive genomic characterization of breast tumors with BRCA1 and BRCA2 mutations
Avantika Lal, Daniele Ramazzotti, Ziming Weng, Keli Liu, James M. Ford, Arend Sidow
BMC Med Genomics. 2019; 12: 84. Published online 2019 Jun 10. doi: 10.1186/s12920-019-0545-0
PMCID:
PMC6558765
Article PubReader PDF–1.5MCite
Defining housekeeping genes suitable for RNA-seq analysis of the human allograft kidney biopsy tissue
Zijie Wang, Zili Lyu, Ling Pan, Gang Zeng, Parmjeet Randhawa
BMC Med Genomics. 2019; 12: 86. Published online 2019 Jun 17. doi: 10.1186/s12920-019-0538-z
PMCID:
PMC6580566
Article PubReader PDF–1.1MCite
A systematic analysis of genomics-based modeling approaches for prediction of drug response to cytotoxic chemotherapies
Joshua D. Mannheimer, Dawn L. Duval, Ashok Prasad, Daniel L. Gustafson
BMC Med Genomics. 2019; 12: 87. Published online 2019 Jun 17. doi: 10.1186/s12920-019-0519-2
PMCID:
PMC6580596
Article PubReader PDF–3.0MCite
Retrovirus insertion site analysis of LGL leukemia patient genomes
Weiling Li, Lei Yang, Robert S. Harris, Lin Lin, Thomas L. Olson, Cait E. Hamele, David J. Feith, Thomas P. Loughran, Jr, Mary Poss
BMC Med Genomics. 2019; 12: 88. Published online 2019 Jun 17. doi: 10.1186/s12920-019-0549-9
PMCID:
PMC6580525
Article PubReader PDF–1.4MCite
Transcriptome profiling reveals significant changes in the gastric muscularis externa with obesity that partially overlap those that occur with idiopathic gastroparesis
B. Paul Herring, Meng Chen, Plamen Mihaylov, April M. Hoggatt, Anita Gupta, Attila Nakeeb, Jennifer N. Choi, John M. Wo
BMC Med Genomics. 2019; 12: 89. Published online 2019 Jun 20. doi: 10.1186/s12920-019-0550-3
PMCID:
PMC6587273
Article PubReader PDF–3.3MCite
Development and validation of GMI signature based random survival forest prognosis model to predict clinical outcome in acute myeloid leukemia
Mingguang Shi, Guofu Xu
BMC Med Genomics. 2019; 12: 90. Published online 2019 Jun 26. doi: 10.1186/s12920-019-0540-5
PMCID:
PMC6595612
Article PubReader PDF–3.7MCite
Placental microRNAs in pregnancies with early onset intrauterine growth restriction and preeclampsia: potential impact on gene expression and pathophysiology
Zain Awamleh, Gregory B. Gloor, Victor K. M. Han
BMC Med Genomics. 2019; 12: 91. Published online 2019 Jun 27. doi: 10.1186/s12920-019-0548-x
PMCID:
PMC6598374
Article PubReader PDF–1.7MCite
MicroRNA-374a, -4680, and -133b suppress cell proliferation through the regulation of genes associated with human cleft palate in cultured human palate cells
Akiko Suzuki, Aimin Li, Mona Gajera, Nada Abdallah, Musi Zhang, Zhongming Zhao, Junichi Iwata
BMC Med Genomics. 2019; 12: 93. Published online 2019 Jul 1. doi: 10.1186/s12920-019-0546-z
PMCID:
PMC6604454
Article PubReader PDF–1006KCite
Next-generation sequencing with comprehensive bioinformatics analysis facilitates somatic mosaic APC gene mutation detection in patients with familial adenomatous polyposis
Borahm Kim, Dongju Won, Mi Jang, Hoguen Kim, Jong Rak Choi, Tae Il Kim, Seung-Tae Lee
BMC Med Genomics. 2019; 12: 103. Published online 2019 Jul 3. doi: 10.1186/s12920-019-0553-0
PMCID:
PMC6610853
Article PubReader PDF–962KCite
Retroposed copies of RET gene: a somatically acquired event in medullary thyroid carcinoma
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, Janete M. Cerutti
BMC Med Genomics. 2019; 12: 104. Published online 2019 Jul 9. doi: 10.1186/s12920-019-0552-1
PMCID:
PMC6617568
Article PubReader PDF–4.8MCite
New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome
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, Nicole Safina, Sharron Townshend, Stephen W. Scherer, Evdokia Anagnostou, Amelie Piton, Matthew Deardorff, Michael Brudno, David Chitayat, Rosanna Weksberg
BMC Med Genomics. 2019; 12: 105. Published online 2019 Jul 9. doi: 10.1186/s12920-019-0555-y
PMCID:
PMC6617651
Article PubReader PDF–7.0MCite
Copy number variation profiling in pharmacogenetics CYP-450 and GST genes in Colombian population
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, Dora Janeth Fonseca Mendoza
BMC Med Genomics. 2019; 12: 110. Published online 2019 Jul 19. doi: 10.1186/s12920-019-0556-x
PMCID:
PMC6642477
Article PubReader PDF–830KCite
The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay
Marketa Wayhelova, Jan Smetana, Vladimira Vallova, Eva Hladilkova, Hana Filkova, Marta Hanakova, Marcela Vilemova, Petra Nikolova, Barbora Gromesova, Renata Gaillyova, Petr Kuglik
BMC Med Genomics. 2019; 12: 111. Published online 2019 Jul 23. doi: 10.1186/s12920-019-0559-7
PMCID:
PMC6651926
Article PubReader PDF–2.0MCite
Humanized yeast genetic interaction mapping predicts synthetic lethal interactions of FBXW7 in breast cancer
Morgan W. B. Kirzinger, Frederick S. Vizeacoumar, Bjorn Haave, Cristina Gonzalez-Lopez, Keith Bonham, Anthony Kusalik, Franco J. Vizeacoumar
BMC Med Genomics. 2019; 12: 112. Published online 2019 Jul 27. doi: 10.1186/s12920-019-0554-z
PMCID:
PMC6660958
Article PubReader PDF–2.9MCite
Analysis of genetic networks regulating refractive eye development in collaborative cross progenitor strain mice reveals new genes and pathways underlying human myopia
Tatiana V. Tkatchenko, Rupal L. Shah, Takayuki Nagasaki, Andrei V. Tkatchenko
BMC Med Genomics. 2019; 12: 113. Published online 2019 Jul 30. doi: 10.1186/s12920-019-0560-1
PMCID:
PMC6668126
Article PubReader PDF–5.8MCite
Clustering analysis of microRNA and mRNA expression data from TCGA using maximum edge-weighted matching algorithms
Lizhong Ding, Zheyun Feng, Yongsheng Bai
BMC Med Genomics. 2019; 12: 117. Published online 2019 Aug 5. doi: 10.1186/s12920-019-0562-z
PMCID:
PMC6683425
Article PubReader PDF–4.0MCite
Discovery of stroke-related blood biomarkers from gene expression network models
Konstantinos Theofilatos, Aigli Korfiati, Seferina Mavroudi, Matthew C. Cowperthwaite, Max Shpak
BMC Med Genomics. 2019; 12: 118. Published online 2019 Aug 7. doi: 10.1186/s12920-019-0566-8
PMCID:
PMC6686563
Article PubReader PDF–2.2MCite
Characterization of disease-specific cellular abundance profiles of chronic inflammatory skin conditions from deconvolution of biopsy samples
Zandra C. Félix Garza, Michael Lenz, Joerg Liebmann, Gökhan Ertaylan, Matthias Born, Ilja C. W. Arts, Peter A. J. Hilbers, Natal A. W. van Riel
BMC Med Genomics. 2019; 12: 121. Published online 2019 Aug 17. doi: 10.1186/s12920-019-0567-7
PMCID:
PMC6698047
Article PubReader PDF–2.9MCite
Genome-wide association study identifies new susceptible loci of IgA nephropathy in Koreans
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, Yeong Hoon Kim, Representing the KNOW-CKD Study Group
BMC Med Genomics. 2019; 12: 122. Published online 2019 Aug 19. doi: 10.1186/s12920-019-0568-6
PMCID:
PMC6700823
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Criteria for reporting incidental findings in clinical exome sequencing – a focus group study on professional practices and perspectives in Belgian genetic centres
Marlies Saelaert, Heidi Mertes, Tania Moerenhout, Elfride De Baere, Ignaas Devisch
BMC Med Genomics. 2019; 12: 123. Published online 2019 Aug 20. doi: 10.1186/s12920-019-0561-0
PMCID:
PMC6702726
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Transcriptome sequencing of lncRNA, miRNA, mRNA and interaction network constructing in coronary heart disease
Jiangquan Liao, Jie Wang, Yongmei Liu, Jun Li, Lian Duan
BMC Med Genomics. 2019; 12: 124. Published online 2019 Aug 23. doi: 10.1186/s12920-019-0570-z
PMCID:
PMC6708182
Article PubReader PDF–3.1MCite
Stoichioproteomics reveal oxygen usage bias, key proteins and pathways in glioma
Yongqin Yin, Bo Li, Kejie Mou, Muhammad T. Khan, Aman C. Kaushik, Dongqing Wei, Yu-Juan Zhang
BMC Med Genomics. 2019; 12: 125. Published online 2019 Aug 29. doi: 10.1186/s12920-019-0571-y
PMCID:
PMC6716898
Article PubReader PDF–4.9MCite
Population structure and transmission modes of indigenous typhoid in Taiwan
Kai-Yu Wang, De-Jen Lee, Shian-Sen Shie, Chih-Jung Chen
BMC Med Genomics. 2019; 12: 126. Published online 2019 Sep 3. doi: 10.1186/s12920-019-0576-6
PMCID:
PMC6724314
Article PubReader PDF–1.4MCite
Transcriptome analysis of human monocytic cells infected with Burkholderia species and exploration of pentraxin-3 as part of the innate immune response against the organisms
Sophie A. Aschenbroich, Eric R. Lafontaine, Maria Cecilia Lopez, Henry V. Baker, Robert J. Hogan
BMC Med Genomics. 2019; 12: 127. Published online 2019 Sep 6. doi: 10.1186/s12920-019-0575-7
PMCID:
PMC6729079
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Enhancer variants associated with Alzheimer’s disease affect gene expression via chromatin looping
Masataka Kikuchi, Norikazu Hara, Mai Hasegawa, Akinori Miyashita, Ryozo Kuwano, Takeshi Ikeuchi, Akihiro Nakaya
BMC Med Genomics. 2019; 12: 128. Published online 2019 Sep 9. doi: 10.1186/s12920-019-0574-8
PMCID:
PMC6734281
Article PubReader PDF–2.4MCite
Host genetic variability and pneumococcal disease: a systematic review and meta-analysis
Anne T. Kloek, Matthijs C. Brouwer, Diederik van de Beek
BMC Med Genomics. 2019; 12: 130. Published online 2019 Sep 13. doi: 10.1186/s12920-019-0572-x
PMCID:
PMC6743160
Article PubReader PDF–958KCite
Integrative genomic analyses of APOBEC-mutational signature, expression and germline deletion of APOBEC3 genes, and immunogenicity in multiple cancer types
Zhishan Chen, Wanqing Wen, Jiandong Bao, Krystle L. Kuhs, Qiuyin Cai, Jirong Long, Xiao-ou Shu, Wei Zheng, Xingyi Guo
BMC Med Genomics. 2019; 12: 131. Published online 2019 Sep 18. doi: 10.1186/s12920-019-0579-3
PMCID:
PMC6751822
Article PubReader PDF–8.8MCite
Transcriptome analysis identified a novel 3-LncRNA regulatory network of transthyretin attenuating glucose induced hRECs dysfunction in diabetic retinopathy
Jun Shao, Yunbin Zhang, Guangming Fan, Yu Xin, Yong Yao
BMC Med Genomics. 2019; 12: 134. Published online 2019 Oct 15. doi: 10.1186/s12920-019-0596-2
PMCID:
PMC6794807
Article PubReader PDF–4.5MCite
Genome-wide discovery and characterization of long noncoding RNAs in patients with multiple myeloma
Minqiu Lu, Ying Hu, Yin Wu, Huixing Zhou, Yuan Jian, Ying Tian, Wenming Chen
BMC Med Genomics. 2019; 12: 135. Published online 2019 Oct 16. doi: 10.1186/s12920-019-0577-5
PMCID:
PMC6794882
Article PubReader PDF–2.3MCite
The caudate nucleus undergoes dramatic and unique transcriptional changes in human prodromal Huntington’s disease brain
Filisia Agus, Diego Crespo, Richard H. Myers, Adam Labadorf
BMC Med Genomics. 2019; 12: 137. Published online 2019 Oct 16. doi: 10.1186/s12920-019-0581-9
PMCID:
PMC6796419
Article PubReader PDF–1.8MCite
Detection of large rearrangements in a hereditary pan-cancer panel using next-generation sequencing
Debora Mancini-DiNardo, Thaddeus Judkins, John Kidd, Ryan Bernhisel, Courtney Daniels, Krystal Brown, Kirsten Meek, Jonathan Craft, Jayson Holladay, Brian Morris, Benjamin B. Roa
BMC Med Genomics. 2019; 12: 138. Published online 2019 Oct 17. doi: 10.1186/s12920-019-0587-3
PMCID:
PMC6798444
Article PubReader PDF–1.3MCite
Intrinsic and extrinsic epigenetic age acceleration are associated with hypertensive target organ damage in older African Americans
Jennifer A. Smith, Jeremy Raisky, Scott M. Ratliff, Jiaxuan Liu, Sharon L. R. Kardia, Stephen T. Turner, Thomas H. Mosley, Wei Zhao
BMC Med Genomics. 2019; 12: 141. Published online 2019 Oct 22. doi: 10.1186/s12920-019-0585-5
PMCID:
PMC6806502
Article PubReader PDF–612KCite
A novel genomic panel as an adjunctive diagnostic tool for the characterization and profiling of breast Fibroepithelial lesions
Yirong Sim, Gwendolene Xin Pei Ng, Cedric Chuan Young Ng, Vikneswari Rajasegaran, Suet Far Wong, Wei Liu, Peiyong Guan, Sanjanaa Nagarajan, Wai Yee Ng, Aye Aye Thike, Jeffrey Chun Tatt Lim, Nur Diyana Binte Md Nasir, Veronique Kiak Mien Tan, Preetha Madhukumar, Wei Sean Yong, Chow Yin Wong, Benita Kiat Tee Tan, Kong Wee Ong, Bin Tean Teh, Puay Hoon Tan
BMC Med Genomics. 2019; 12: 142. Published online 2019 Oct 23. doi: 10.1186/s12920-019-0588-2
PMCID:
PMC6813086
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Gene-based analysis of ADHD using PASCAL: a biological insight into the novel associated genes
Aitana Alonso-Gonzalez, Manuel Calaza, Cristina Rodriguez-Fontenla, Angel Carracedo
BMC Med Genomics. 2019; 12: 143. Published online 2019 Oct 24. doi: 10.1186/s12920-019-0593-5
PMCID:
PMC6813133
Article PubReader PDF–2.2MCite
Whole-genome bisulfite sequencing in systemic sclerosis provides novel targets to understand disease pathogenesis
Tianyuan Lu, Kathleen Oros Klein, Inés Colmegna, Maximilien Lora, Celia M. T. Greenwood, Marie Hudson
BMC Med Genomics. 2019; 12: 144. Published online 2019 Oct 24. doi: 10.1186/s12920-019-0602-8
PMCID:
PMC6813992
Article PubReader PDF–1.0MCite
ATXN1 N-terminal region explains the binding differences of wild-type and expanded forms
Sara Rocha, Jorge Vieira, Noé Vázquez, Hugo López-Fernández, Florentino Fdez-Riverola, Miguel Reboiro-Jato, André D. Sousa, Cristina P. Vieira
BMC Med Genomics. 2019; 12: 145. Published online 2019 Oct 26. doi: 10.1186/s12920-019-0594-4
PMCID:
PMC6814966
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Genetic and epigenetic modifications induced by chemotherapeutic drugs: human amniotic fluid stem cells as an in-vitro model
Prabin Upadhyaya, Alessandra Di Serafino, Luca Sorino, Patrizia Ballerini, Marco Marchisio, Laura Pierdomenico, Liborio Stuppia, Ivana Antonucci
BMC Med Genomics. 2019; 12: 146. Published online 2019 Oct 28. doi: 10.1186/s12920-019-0595-3
PMCID:
PMC6816179
Article PubReader PDF–1.6MCite
A comprehensive genome-wide profiling comparison between HBV and HCV infected hepatocellular carcinoma
Suofeng Sun, Yuan Li, Shuangyin Han, Hongtao Jia, Xiuling Li, Xiaofang Li
BMC Med Genomics. 2019; 12: 147. Published online 2019 Oct 28. doi: 10.1186/s12920-019-0580-x
PMCID:
PMC6819460
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Gene expression profiling in blood from cerebral malaria patients and mild malaria patients living in Senegal
Alassane Thiam, Michel Sanka, Rokhaya Ndiaye Diallo, Magali Torres, Babacar Mbengue, Nicolas Fernandez Nunez, Fatou Thiam, Gora Diop, Geneviève Victorero, Catherine Nguyen, Alioune Dieye, Pascal Rihet
BMC Med Genomics. 2019; 12: 148. Published online 2019 Oct 30. doi: 10.1186/s12920-019-0599-z
PMCID:
PMC6821028
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Epigenetic landscapes suggest that genetic risk for intracranial aneurysm operates on the endothelium
Kerry E. Poppenberg, Kaiyu Jiang, Michael K. Tso, Kenneth V. Snyder, Adnan H. Siddiqui, John Kolega, James N. Jarvis, Hui Meng, Vincent M. Tutino
BMC Med Genomics. 2019; 12: 149. Published online 2019 Oct 30. doi: 10.1186/s12920-019-0591-7
PMCID:
PMC6821037
Article PubReader PDF–1.4MCite
A comparison of machine learning classifiers for dementia with Lewy bodies using miRNA expression data
Daichi Shigemizu, Shintaro Akiyama, Yuya Asanomi, Keith A. Boroevich, Alok Sharma, Tatsuhiko Tsunoda, Takashi Sakurai, Kouichi Ozaki, Takahiro Ochiya, Shumpei Niida
BMC Med Genomics. 2019; 12: 150. Published online 2019 Oct 30. doi: 10.1186/s12920-019-0607-3
PMCID:
PMC6822471
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Detection of fetal trisomy and single gene disease by massively parallel sequencing of extracellular vesicle DNA in maternal plasma: a proof-of-concept validation
Weiting Zhang, Sen Lu, Dandan Pu, Haiping Zhang, Lin Yang, Peng Zeng, Fengxia Su, Zhichao Chen, Mei Guo, Ying Gu, Yanmei Luo, Huamei Hu, Yanping Lu, Fang Chen, Ya Gao
BMC Med Genomics. 2019; 12: 151. Published online 2019 Nov 4. doi: 10.1186/s12920-019-0590-8
PMCID:
PMC6829814
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Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family
Eva Lindholm Carlström, Jonatan Halvardson, Mitra Etemadikhah, Lennart Wetterberg, Karl-Henrik Gustavson, Lars Feuk
BMC Med Genomics. 2019; 12: 156. Published online 2019 Nov 6. doi: 10.1186/s12920-019-0606-4
PMCID:
PMC6833288
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Preimplantation genetic testing for a family with usher syndrome through targeted sequencing and haplotype analysis
Haining Luo, Chao Chen, Yun Yang, Yinfeng Zhang, Yuan Yuan, Wanyang Wang, Renhua Wu, Zhiyu Peng, Ying Han, Lu Jiang, Ruqiang Yao, Xiaoying An, Weiwei Zhang, Yanqun Le, Jiale Xiang, Na Yi, Hui Huang, Wei Li, Yunshan Zhang, Jun Sun
BMC Med Genomics. 2019; 12: 157. Published online 2019 Nov 7. doi: 10.1186/s12920-019-0600-x
PMCID:
PMC6836415
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A functional polymorphism in the promoter of miR-17-92 cluster is associated with decreased risk of ischemic stroke
Huatuo Huang, Guijiang Wei, Chunfang Wang, Yulan Lu, Chunhong Liu, Rong Wang, Xiang Shi, Jun Yang, Yesheng Wei
BMC Med Genomics. 2019; 12: 159. Published online 2019 Nov 8. doi: 10.1186/s12920-019-0589-1
Correction in:
BMC Med Genomics. 2019; 12: 176.
PMCID:
PMC6839137
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Significant random signatures reveals new biomarker for breast cancer
Elnaz Saberi Ansar, Changiz Eslahchii, Mahsa Rahimi, Lobat Geranpayeh, Marzieh Ebrahimi, Rosa Aghdam, Gwenneg Kerdivel
BMC Med Genomics. 2019; 12: 160. Published online 2019 Nov 8. doi: 10.1186/s12920-019-0609-1
PMCID:
PMC6842262
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Accurate detection of KRAS, NRAS and BRAF mutations in metastatic colorectal cancers by bridged nucleic acid-clamp real-time PCR
Yuki Nagakubo, Yosuke Hirotsu, Kenji Amemiya, Toshio Oyama, Hitoshi Mochizuki, Masao Omata
BMC Med Genomics. 2019; 12: 162. Published online 2019 Nov 11. doi: 10.1186/s12920-019-0610-8
PMCID:
PMC6849194
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Medroxyprogesterone acetate causes the alterations of endoplasmic reticulum related mRNAs and lncRNAs in endometrial cancer cells
Wenjiao Cao, Wuyuan Gao, Panchan Zheng, Xiao Sun, Lihua Wang
BMC Med Genomics. 2019; 12: 163. Published online 2019 Nov 12. doi: 10.1186/s12920-019-0601-9
PMCID:
PMC6852953
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Integrative molecular analysis of metastatic hepatocellular carcinoma
Dongfang Wang, Yanjing Zhu, Jing Tang, Qiuyu Lian, Guijuan Luo, Wen Wen, Michael Q. Zhang, Hongyang Wang, Lei Chen, Jin Gu
BMC Med Genomics. 2019; 12: 164. Published online 2019 Nov 13. doi: 10.1186/s12920-019-0586-4
PMCID:
PMC6854708
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Classification of glioma based on prognostic alternative splicing
Yaomin Li, Zhonglu Ren, Yuping Peng, Kaishu Li, Xiran Wang, Guanglong Huang, Songtao Qi, Yawei Liu
BMC Med Genomics. 2019; 12: 165. Published online 2019 Nov 15. doi: 10.1186/s12920-019-0603-7
PMCID:
PMC6858651
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Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists
Julia El Mecky, Lennart Johansson, Mirjam Plantinga, Angela Fenwick, Anneke Lucassen, Trijnie Dijkhuizen, Annemieke van der Hout, Kate Lyle, Irene van Langen
BMC Med Genomics. 2019; 12: 170. Published online 2019 Nov 29. doi: 10.1186/s12920-019-0612-6
PMCID:
PMC6883538
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Identification and ranking of recurrent neo-epitopes in cancer
Eric Blanc, Manuel Holtgrewe, Arunraj Dhamodaran, Clemens Messerschmidt, Gerald Willimsky, Thomas Blankenstein, Dieter Beule
BMC Med Genomics. 2019; 12: 171. Published online 2019 Nov 27. doi: 10.1186/s12920-019-0611-7
PMCID:
PMC6882202
Article PubReader PDF–1.2MCite
Return of genetic and genomic research findings: experience of a pediatric biorepository
Tanya Papaz, Eriskay Liston, Laura Zahavich, Dimitri J. Stavropoulos, Rebekah K. Jobling, Raymond H. Kim, Miriam Reuter, Anastasia Miron, Erwin Oechslin, Tapas Mondal, Lynn Bergin, John F. Smythe, Luis Altamirano-Diaz, Jane Lougheed, Roderick Yao, Oyediran Akinrinade, Jeroen Breckpot, Seema Mital
BMC Med Genomics. 2019; 12: 173. Published online 2019 Nov 27. doi: 10.1186/s12920-019-0618-0
PMCID:
PMC6882371
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High-throughput RNA sequencing from paired lesional- and non-lesional skin reveals major alterations in the psoriasis circRNAome
Liviu-Ionut Moldovan, Thomas Birkballe Hansen, Morten Trillingsgaard Venø, Trine Line Hauge Okholm, Thomas Levin Andersen, Henrik Hager, Lars Iversen, Jørgen Kjems, Claus Johansen, Lasse Sommer Kristensen
BMC Med Genomics. 2019; 12: 174. Published online 2019 Nov 27. doi: 10.1186/s12920-019-0616-2
PMCID:
PMC6882360
Article PubReader PDF–4.1MCite
Systematic computational identification of prognostic cytogenetic markers in neuroblastoma
Chao Qin, Xiaoyan He, Yanding Zhao, Chun-Yip Tong, Kenneth Y. Zhu, Yongqi Sun, Chao Cheng
BMC Med Genomics. 2019; 12: 192. Published online 2019 Dec 12. doi: 10.1186/s12920-019-0620-6
PMCID:
PMC6909636
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Competitive endogenous RNA (ceRNA) regulation network of lncRNAs, miRNAs, and mRNAs in Wilms tumour
Fucai Tang, Zechao Lu, Jiamin Wang, Zhibiao Li, Weijia Wu, Haifeng Duan, Zhaohui He
BMC Med Genomics. 2019; 12: 194. Published online 2019 Dec 16. doi: 10.1186/s12920-019-0644-y
PMCID:
PMC6915924
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RNA-seq from archival FFPE breast cancer samples: molecular pathway fidelity and novel discovery
Nathan D. Pennock, Sonali Jindal, Wesley Horton, Duanchen Sun, Jayasri Narasimhan, Lucia Carbone, Suzanne S. Fei, Robert Searles, Christina A. Harrington, Julja Burchard, Sheila Weinmann, Pepper Schedin, Zheng Xia
BMC Med Genomics. 2019; 12: 195. Published online 2019 Dec 19. doi: 10.1186/s12920-019-0643-z
PMCID:
PMC6924022
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Genome-wide association study in Chinese cohort identifies one novel hypospadias risk associated locus at 12q13.13
Zhongzhong Chen, Xiaoling Lin, Yunping Lei, Haitao Chen, Richard H. Finnell, Yaping Wang, Jianfeng Xu, Daru Lu, Hua Xie, Fang Chen
BMC Med Genomics. 2019; 12: 196. Published online 2019 Dec 19. doi: 10.1186/s12920-019-0642-0
PMCID:
PMC6923877
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CDK1 and CCNB1 as potential diagnostic markers of rhabdomyosarcoma: validation following bioinformatics analysis
Qianru Li, Liang Zhang, Jinfang Jiang, Yangyang Zhang, Xiaomeng Wang, Qiaochu Zhang, Yang Wang, Chunxia Liu, Feng Li
BMC Med Genomics. 2019; 12: 198. Published online 2019 Dec 23. doi: 10.1186/s12920-019-0645-x
PMCID:
PMC6929508
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Analysis of gene expression profiles and protein-protein interaction networks in multiple tissues of systemic sclerosis
Elham Karimizadeh, Ali Sharifi-Zarchi, Hassan Nikaein, Seyedehsaba Salehi, Bahar Salamatian, Naser Elmi, Farhad Gharibdoost, Mahdi Mahmoudi
BMC Med Genomics. 2019; 12: 199. Published online 2019 Dec 27. doi: 10.1186/s12920-019-0632-2
PMCID:
PMC6935135
Article PubReader PDF–1.6MCite
MEG3 promotes proliferation and inhibits apoptosis in osteoarthritis chondrocytes by miR-361-5p/FOXO1 axis
Anying Wang, Naixia Hu, Yefeng Zhang, Yuanzhen Chen, Changhui Su, Yao Lv, Yong Shen
BMC Med Genomics. 2019; 12: 201. Published online 2019 Dec 30. doi: 10.1186/s12920-019-0649-6
PMCID:
PMC6937924
Article PubReader PDF–4.5MCite

Review

Genome-wide association studies of severe P. falciparum malaria susceptibility: progress, pitfalls and prospects
Delesa Damena, Awany Denis, Lemu Golassa, Emile R. Chimusa
BMC Med Genomics. 2019; 12: 120. Published online 2019 Aug 14. doi: 10.1186/s12920-019-0564-x
PMCID:
PMC6693204
Article PubReader PDF–939KCite

Software

MySeq: privacy-protecting browser-based personal Genome analysis for genomics education and exploration
Michael D. Linderman, Leo McElroy, Laura Chang
BMC Med Genomics. 2019; 12: 172. Published online 2019 Nov 27. doi: 10.1186/s12920-019-0615-3
PMCID:
PMC6882182
Article PubReader PDF–1.0MCite
Genepanel.iobio - an easy to use web tool for generating disease- and phenotype-associated gene lists
Aditya Ekawade, Matt Velinder, Alistair Ward, Tonya DiSera, Chase Miller, Yi Qiao, Gabor Marth
BMC Med Genomics. 2019; 12: 190. Published online 2019 Dec 11. doi: 10.1186/s12920-019-0641-1
PMCID:
PMC6907284
Article PubReader PDF–906KCite
Genome analysis and knowledge-driven variant interpretation with TGex
Dvir Dahary, Yaron Golan, Yaron Mazor, Ofer Zelig, Ruth Barshir, Michal Twik, Tsippi Iny Stein, Guy Rosner, Revital Kariv, Fei Chen, Qiang Zhang, Yiping Shen, Marilyn Safran, Doron Lancet, Simon Fishilevich
BMC Med Genomics. 2019; 12: 200. Published online 2019 Dec 30. doi: 10.1186/s12920-019-0647-8
PMCID:
PMC6937949
Article PubReader PDF–1.9MCite

Technical Advances

Identification of biomarkers for amyotrophic lateral sclerosis by comprehensive analysis of exosomal mRNAs in human cerebrospinal fluid
Kentaro Otake, Hidenori Kamiguchi, Yoshihiko Hirozane
BMC Med Genomics. 2019; 12: 7. Published online 2019 Jan 10. doi: 10.1186/s12920-019-0473-z
PMCID:
PMC6329125
Article PubReader PDF–1.7MCite
BasePhasing: a highly efficient approach for preimplantation genetic haplotyping in clinical application of balanced translocation carriers
Shuo Zhang, Dingding Zhao, Jun Zhang, Yan Mao, Lingyin Kong, Yueping Zhang, Bo Liang, Xiaoxi Sun, Congjian Xu
BMC Med Genomics. 2019; 12: 52. Published online 2019 Mar 18. doi: 10.1186/s12920-019-0495-6
PMCID:
PMC6423798
Article PubReader PDF–2.5MCite
Novel secretome-to-transcriptome integrated or secreto-transcriptomic approach to reveal liquid biopsy biomarkers for predicting individualized prognosis of breast cancer patients
J. Astor Ankney, Ling Xie, John A. Wrobel, Li Wang, Xian Chen
BMC Med Genomics. 2019; 12: 78. Published online 2019 May 30. doi: 10.1186/s12920-019-0530-7
PMCID:
PMC6543675
Article PubReader PDF–5.0MCite
Targeted next generation sequencing as a tool for precision medicine
Markus Gulilat, Tyler Lamb, Wendy A. Teft, Jian Wang, Jacqueline S. Dron, John F. Robinson, Rommel G. Tirona, Robert A. Hegele, Richard B. Kim, Ute I. Schwarz
BMC Med Genomics. 2019; 12: 81. Published online 2019 Jun 3. doi: 10.1186/s12920-019-0527-2
PMCID:
PMC6547602
Article PubReader PDF–3.7MCite
Genomic data analysis workflows for tumors from patient-derived xenografts (PDXs): challenges and guidelines
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, Carol J. Bult
BMC Med Genomics. 2019; 12: 92. Published online 2019 Jul 1. doi: 10.1186/s12920-019-0551-2
PMCID:
PMC6604205
Article PubReader PDF–5.6MCite
Identification of single nucleotide variants using position-specific error estimation in deep sequencing data
Dimitrios Kleftogiannis, Marco Punta, Anuradha Jayaram, Shahneen Sandhu, Stephen Q. Wong, Delila Gasi Tandefelt, Vincenza Conteduca, Daniel Wetterskog, Gerhardt Attard, Stefano Lise
BMC Med Genomics. 2019; 12: 115. Published online 2019 Aug 2. doi: 10.1186/s12920-019-0557-9
PMCID:
PMC6679440
Article PubReader PDF–1.4MCite
Deconvolution of transcriptomes and miRNomes by independent component analysis provides insights into biological processes and clinical outcomes of melanoma patients
Petr V. Nazarov, Anke K. Wienecke-Baldacchino, Andrei Zinovyev, Urszula Czerwińska, Arnaud Muller, Dorothée Nashan, Gunnar Dittmar, Francisco Azuaje, Stephanie Kreis
BMC Med Genomics. 2019; 12: 132. Published online 2019 Sep 18. doi: 10.1186/s12920-019-0578-4
PMCID:
PMC6751789
Article PubReader PDF–2.2MCite

Corrections

Correction to: Human ancestry indentification under resource constraints -- what can one chromosome tell us about human biogeographical ancestry?
Tanjin T. Toma, Jeremy M. Dawson, Donald A. Adjeroh
BMC Med Genomics. 2019; 12: 2. Published online 2019 Jan 9. doi: 10.1186/s12920-018-0464-5
Corrects:
BMC Med Genomics. 2018; 11(Suppl 5): 0.
PMCID:
PMC6325761
Correction PubReader PDF–132KCite
Correction to: Systematic characterization of germline variants from the DiscovEHR study endometrial carcinoma population
Jason E. Miller, Raghu P. Metpally, Thomas N. Person, Sarathbabu Krishnamurthy, Venkata Ramesh Dasari, Manu Shivakumar, Daniel R. Lavage, Adam M. Cook, David J. Carey, Marylyn D. Ritchie, Dokyoon Kim, Radhika Gogoi, on behalf of the DiscovEHR collaboration
BMC Med Genomics. 2019; 12: 65. Published online 2019 May 22. doi: 10.1186/s12920-019-0523-6
Corrects:
BMC Med Genomics. 2019; 12: 59.
PMCID:
PMC6530188
Correction PubReader PDF–429KCite
Correction to: Sequencing and curation strategies for identifying candidate glioblastoma treatments
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, Julia L. Moore Vogel, Catherine Reeves, Depinder Khaira, Anthony Calabro, Duyang Kim, Michelle F. Lamendola-Essel, Cecilia Esteves, Phaedra Agius, Christian Stolte, John Boockvar, Alexis Demopoulos, Dimitris G. Placantonakis, John G. Golfinos, Cameron Brennan, Jeffrey Bruce, Andrew B. Lassman, Peter Canoll, Christian Grommes, Mariza Daras, Eli Diamond, Antonio Omuro, Elena Pentsova, Dana E. Orange, Stephen J. Harvey, Jerome B. Posner, Vanessa V. Michelini, Vaidehi Jobanputra, Michael C. Zody, John Kelly, Laxmi Parida, Kazimierz O. Wrzeszczynski, Ajay K. Royyuru, Robert B. Darnell
BMC Med Genomics. 2019; 12: 114. Published online 2019 Aug 2. doi: 10.1186/s12920-019-0563-y
Corrects:
BMC Med Genomics. 2019; 12: 56.
PMCID:
PMC6676607
Correction PubReader PDF–271KCite
Correction to: Predicting drug response of tumors from integrated genomic profiles by deep neural networks
Yu-Chiao Chiu, Hung-I Harry Chen, Tinghe Zhang, Songyao Zhang, Aparna Gorthi, Li-Ju Wang, Yufei Huang, Yidong Chen
BMC Med Genomics. 2019; 12: 119. Published online 2019 Aug 12. doi: 10.1186/s12920-019-0569-5
Corrects:
BMC Med Genomics. 2019; 12(Suppl 1): 18.
PMCID:
PMC6689858
Correction PubReader PDF–247KCite
Correction to: Integrative analysis of loss-of-function variants in clinical and genomic data reveals novel genes associated with cardiovascular traits
Benjamin S. Glicksberg, Letizia Amadori, Nicholas K. Akers, Katyayani Sukhavasi, Oscar Franzén, Li Li, Gillian M. Belbin, Kristin L. Ayers, Khader Shameer, Marcus A. Badgeley, Kipp W. Johnson, Ben Readhead, Bruce J. Darrow, Eimear E. Kenny, Christer Betsholtz, Raili Ermel, Josefin Skogsberg, Arno Ruusalepp, Eric E. Schadt, Joel T. Dudley, Hongxia Ren, Jason C. Kovacic, Chiara Giannarelli, Shuyu D. Li, Johan L. M. Björkegren, Rong Chen
BMC Med Genomics. 2019; 12: 154. Published online 2019 Nov 5. doi: 10.1186/s12920-019-0573-9
Corrects:
BMC Med Genomics. 2019; 12(Suppl 6): 108.
PMCID:
PMC6829820
Correction PubReader PDF–189KCite
Correction to: RNA sequencing identifies novel non-coding RNA and exon-specific effects associated with cigarette smoking
Margaret M. Parker, Robert P. Chase, Andrew Lamb, Alejandro Reyes, Aabida Saferali, Jeong H. Yun, Blanca E. Himes, Edwin K. Silverman, Craig P. Hersh, Peter J. Castaldi
BMC Med Genomics. 2019; 12: 166. Published online 2019 Nov 18. doi: 10.1186/s12920-019-0617-1
Corrects:
BMC Med Genomics. 2017; 10: 58.
PMCID:
PMC6859605
Correction PubReader PDF–188KCite
Correction to: A functional polymorphism in the promoter of miR-17-92 cluster is associated with decreased risk of ischemic stroke
Huatuo Huang, Guijiang Wei, Chunfang Wang, Yulan Lu, Chunhong Liu, Rong Wang, Xiang Shi, Jun Yang, Yesheng Wei
BMC Med Genomics. 2019; 12: 176. Published online 2019 Dec 2. doi: 10.1186/s12920-019-0631-3
Corrects:
BMC Med Genomics. 2019; 12: 159.
PMCID:
PMC6886212
Correction PubReader PDF–234KCite
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