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Volume 12; Issue 1
Main
Human Genomics
Volume 12; Issue 1
Human Genomics
Volume 12; Issue 1
1
Insights about genome function from spatial organization of the genome
Roy, Shuvra Shekhar
,
Mukherjee, Ananda Kishore
,
Chowdhury, Shantanu
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 1.35 MB
Your tags:
english, 2018
2
A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features
Kellaris, Georgios
,
Khan, Kamal
,
Baig, Shahid M.
,
Tsai, I-Chun
,
Zamora, Francisca Millan
,
Ruggieri, Paul
,
Natowicz, Marvin R.
,
Katsanis, Nicholas
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 1.06 MB
Your tags:
english, 2018
3
The development of large-scale de-identified biomedical databases in the age of genomics—principles and challenges
Dankar, Fida K.
,
Ptitsyn, Andrey
,
Dankar, Samar K.
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 818 KB
Your tags:
english, 2018
4
Attitudes of stakeholders in psychiatry towards the inclusion of children in genomic research
Sundby, Anna
,
Boolsen, Merete Watt
,
Burgdorf, Kristoffer Sølvsten
,
Ullum, Henrik
,
Hansen, Thomas Folkmann
,
Mors, Ole
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 1.28 MB
Your tags:
english, 2018
5
2-deoxy-2-[18]fluoro-D-glucose PET/CT (18FDG PET/CT) may not be a viable biomarker in Pompe disease
Plöckinger, U.
,
Prasad, V.
,
Ziagaki, A.
,
Tiling, N.
,
Poellinger, A.
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 2.33 MB
Your tags:
english, 2018
6
Large-scale discovery of previously undetected microRNAs specific to human liver
Minatel, Brenda C.
,
Martinez, Victor D.
,
Ng, Kevin W.
,
Sage, Adam P.
,
Tokar, Tomas
,
Marshall, Erin A.
,
Anderson, Christine
,
Enfield, Katey S. S.
,
Stewart, Greg L.
,
Reis, Patricia P.
,
Jurisica, Igor
,
L
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 1.93 MB
Your tags:
english, 2018
7
Genome-scale portrait and evolutionary significance of human-specific core promoter tri- and tetranucleotide short tandem repeats
Nazaripanah, N.
,
Adelirad, F.
,
Delbari, A.
,
Sahaf, R.
,
Abbasi-Asl, T.
,
Ohadi, M.
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 1.12 MB
Your tags:
english, 2018
8
Correlation of gene expression and associated mutation profiles of APOBEC3A, APOBEC3B, REV1, UNG, and FHIT with chemosensitivity of cancer cell lines to drug treatment
Vural, Suleyman
,
Simon, Richard
,
Krushkal, Julia
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 1.20 MB
Your tags:
english, 2018
9
Tensions in ethics and policy created by National Precision Medicine Programs
Minari, Jusaku
,
Brothers, Kyle B.
,
Morrison, Michael
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 455 KB
Your tags:
english, 2018
10
Public attitudes in Japan toward participation in whole genome sequencing studies
Okita, Taketoshi
,
Ohashi, Noriko
,
Kabata, Daijiro
,
Shintani, Ayumi
,
Kato, Kazuto
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 596 KB
Your tags:
english, 2018
11
Better governance, better access: practising responsible data sharing in the METADAC governance infrastructure
Murtagh, Madeleine J.
,
Blell, Mwenza T.
,
Butters, Olly W.
,
Cowley, Lorraine
,
Dove, Edward S.
,
Goodman, Alissa
,
Griggs, Rebecca L.
,
Hall, Alison
,
Hallowell, Nina
,
Kumari, Meena
,
Mangino, Massimo
,
Maugh
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 614 KB
Your tags:
english, 2018
12
Including all voices in international data-sharing governance
Kaye, Jane
,
Terry, Sharon F.
,
Juengst, Eric
,
Coy, Sarah
,
Harris, Jennifer R.
,
Chalmers, Don
,
Dove, Edward S.
,
Budin-Ljøsne, Isabelle
,
Adebamowo, Clement
,
Ogbe, Emilomo
,
Bezuidenhout, Louise
,
Morrison,
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 389 KB
Your tags:
english, 2018
13
Transcription start sites at the end of protein-coding genes
Huang, Ming-Yu
,
Liu, Ji-Long
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 767 KB
Your tags:
english, 2018
14
Yale School of Public Health Symposium on tissue imaging mass spectrometry: illuminating phenotypic heterogeneity and drug disposition at the molecular level
Charkoftaki, Georgia
,
Rattray, Nicholas J. W.
,
Andrén, Per E.
,
Caprioli, Richard M.
,
Castellino, Steve
,
Duncan, Mark W.
,
Goodwin, Richard J. A.
,
Schey, Kevin L.
,
Shahidi-Latham, Sheerin K.
,
Veselkov,
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 303 KB
Your tags:
english, 2018
15
Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community
Elhawary, Nasser A.
,
Jiffri, Essam H.
,
Jambi, Samira
,
Mufti, Ahmad H.
,
Dannoun, Anas
,
Kordi, Hassan
,
Khogeer, Asim
,
Jiffri, Osama H.
,
Elhawary, Abdelrahman N.
,
Tayeb, Mohammed T.
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 1.22 MB
Your tags:
english, 2018
16
Evaluation of a bone morphogenetic protein 6 variant as a cause of iron loading
McDonald, Cameron J.
,
Rishi, Gautam
,
Secondes, Eriza S.
,
Ostini, Lesa
,
Wallace, Daniel F.
,
Crawford, Darrell H. G.
,
Sia, Hanlon
,
Clark, Paul
,
Subramaniam, V. Nathan
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 3.09 MB
Your tags:
english, 2018
17
APPLaUD: access for patients and participants to individual level uninterpreted genomic data
Thorogood, Adrian
,
Bobe, Jason
,
Prainsack, Barbara
,
Middleton, Anna
,
Scott, Erick
,
Nelson, Sarah
,
Corpas, Manuel
,
Bonhomme, Natasha
,
Rodriguez, Laura Lyman
,
Murtagh, Madeleine
,
Kleiderman, Erika
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 396 KB
Your tags:
english, 2018
18
Ensemble genomic analysis in human lung tissue identifies novel genes for chronic obstructive pulmonary disease
Morrow, Jarrett D.
,
Cho, Michael H.
,
Platig, John
,
Zhou, Xiaobo
,
DeMeo, Dawn L.
,
Qiu, Weiliang
,
Celli, Bartholome
,
Marchetti, Nathaniel
,
Criner, Gerard J.
,
Bueno, Raphael
,
Washko, George R.
,
Glass, Ki
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 1.39 MB
Your tags:
english, 2018
19
Identify Down syndrome transcriptome associations using integrative analysis of microarray database and correlation-interaction network
Chen, Min
,
Wang, Jiayan
,
Luo, Yingjun
,
Huang, Kailing
,
Shi, Xiaoshun
,
Liu, Yanhui
,
Li, Jin
,
Lai, Zhengfei
,
Xue, Shuya
,
Gao, Haimei
,
Chen, Allen
,
Chen, Dunjin
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 5.36 MB
Your tags:
english, 2018
20
Beyond genomics: understanding exposotypes through metabolomics
Rattray, Nicholas J. W.
,
Deziel, Nicole C.
,
Wallach, Joshua D.
,
Khan, Sajid A.
,
Vasiliou, Vasilis
,
Ioannidis, John P. A.
,
Johnson, Caroline H.
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 968 KB
Your tags:
english, 2018
21
Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly
Wang, Ye
,
Wu, Xueli
,
Du, Liu
,
Zheng, Ju
,
Deng, Songqing
,
Bi, Xin
,
Chen, Qiuyan
,
Xie, Hongning
,
Férec, Claude
,
Cooper, David N.
,
Luo, Yanmin
,
Fang, Qun
,
Chen, Jian-Min
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 3.40 MB
Your tags:
english, 2018
22
The genetic structure of the Belgian population
Van den Eynden, Jimmy
,
Descamps, Tine
,
Delporte, Els
,
Roosens, Nancy H. C.
,
De Keersmaecker, Sigrid C. J.
,
De Wit, Vanessa
,
Vermeesch, Joris Robert
,
Goetghebeur, Els
,
Tafforeau, Jean
,
Demarest, Stefaa
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 1.53 MB
Your tags:
english, 2018
23
Meeting report of the 2017 KidGen Renal Genetics Symposium
Jayasinghe, Kushani
,
Quinlan, Cathy
,
Stark, Zornitza
,
Patel, Chirag
,
Sampson, Matthew G.
,
Saleem, Moin
,
Mallett, Andrew J.
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 500 KB
Your tags:
english, 2018
24
Nonparametric approaches for population structure analysis
Alhusain, Luluah
,
Hafez, Alaaeldin M.
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 595 KB
Your tags:
english, 2018
25
The tale of histone modifications and its role in multiple sclerosis
He, Hui
,
Hu, Zhiping
,
Xiao, Han
,
Zhou, Fangfang
,
Yang, Binbin
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 955 KB
Your tags:
english, 2018
26
Computational analysis of mRNA expression profiling in the inner ear reveals candidate transcription factors associated with proliferation, differentiation, and deafness
Perl, Kobi
,
Shamir, Ron
,
Avraham, Karen B.
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 1.60 MB
Your tags:
english, 2018
27
Associations between hypertension and the peroxisome proliferator-activated receptor-δ (PPARD) gene rs7770619 C>T polymorphism in a Korean population
Kim, Minjoo
,
Kim, Minkyung
,
Yoo, Hye Jin
,
Shon, Jayoung
,
Lee, Jong Ho
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 734 KB
Your tags:
english, 2018
28
A new bioinformatics tool to help assess the significance of BRCA1 variants
Cusin, Isabelle
,
Teixeira, Daniel
,
Zahn-Zabal, Monique
,
Rech de Laval, Valentine
,
Gleizes, Anne
,
Viassolo, Valeria
,
Chappuis, Pierre O.
,
Hutter, Pierre
,
Bairoch, Amos
,
Gaudet, Pascale
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 1.16 MB
Your tags:
english, 2018
29
Mutational analysis of epidermal and hyperproliferative type I keratins in mild and moderate psoriasis vulgaris patients: a possible role in the pathogenesis of psoriasis along with disease severity
Elango, Tamilselvi
,
Sun, Jingying
,
Zhu, Caihong
,
Zhou, Fusheng
,
Zhang, Yaohua
,
Sun, Liangdan
,
Yang, Sen
,
Zhang, Xuejun
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 5.96 MB
Your tags:
english, 2018
30
Associations of high-altitude polycythemia with polymorphisms in PIK3CD and COL4A3 in Tibetan populations
Fan, Xiaowei
,
Ma, Lifeng
,
Zhang, Zhiying
,
Li, Yi
,
Hao, Meng
,
Zhao, Zhipeng
,
Zhao, Yiduo
,
Liu, Fang
,
Liu, Lijun
,
Luo, Xingguang
,
Cai, Peng
,
Li, Yansong
,
Kang, Longli
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 1.54 MB
Your tags:
english, 2018
31
Abundance of clinical variants in exons included in multiple transcripts
Subramanian, Sankar
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 721 KB
Your tags:
english, 2018
32
Caution needs to be taken when assigning transcription start sites to ends of protein-coding genes: a rebuttal
Sabath, Niv
,
Vilborg, Anna
,
Steitz, Joan A.
,
Shalgi, Reut
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 832 KB
Your tags:
english, 2018
33
Oxidative stress-induced chromosome breaks within the ABL gene: a model for chromosome rearrangement in nasopharyngeal carcinoma
Tan, Sang-Nee
,
Sim, Sai-Peng
,
Khoo, Alan Soo-Beng
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 2.93 MB
Your tags:
english, 2018
34
Integrating rare genetic variants into pharmacogenetic drug response predictions
Ingelman-Sundberg, Magnus
,
Mkrtchian, Souren
,
Zhou, Yitian
,
Lauschke, Volker M.
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 997 KB
Your tags:
english, 2018
35
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients
Fichna, Jakub Piotr
,
Macias, Anna
,
Piechota, Marcin
,
Korostyński, Michał
,
Potulska-Chromik, Anna
,
Redowicz, Maria Jolanta
,
Zekanowski, Cezary
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 1.06 MB
Your tags:
english, 2018
36
BRCA1 and BRCA2 mutations and clinical interpretation in 398 ovarian cancer patients: comparison with breast cancer variants in a similar population
Cardoso, Florencia C.
,
Goncalves, Susana
,
Mele, Pablo G.
,
Liria, Natalia C.
,
Sganga, Leonardo
,
Diaz Perez, Ignacio
,
Podesta, Ernesto J.
,
Solano, Angela R.
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 738 KB
Your tags:
english, 2018
37
Forward and reverse mutations in stages of cancer development
Hu, Taobo
,
Kumar, Yogesh
,
Shazia, Iram
,
Duan, Shen-Jia
,
Li, Yi
,
Chen, Lei
,
Chen, Jin-Fei
,
Yin, Rong
,
Kwong, Ava
,
Leung, Gilberto Ka-Kit
,
Mat, Wai-Kin
,
Wu, Zhenggang
,
Long, Xi
,
Chan, Cheuk-Hin
,
Chen, S
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 3.35 MB
Your tags:
english, 2018
38
Linking a role of lncRNAs (long non-coding RNAs) with insulin resistance, accelerated senescence, and inflammation in patients with type 2 diabetes
Sathishkumar, Chandrakumar
,
Prabu, Paramasivam
,
Mohan, Viswanathan
,
Balasubramanyam, Muthuswamy
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 793 KB
Your tags:
english, 2018
39
A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa
Chen, Yabin
,
Huang, Li
,
Jiao, Xiaodong
,
Riazuddin, Sheikh
,
Riazuddin, S. Amer
,
Fielding Hetmancik, J.
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 4.28 MB
Your tags:
english, 2018
40
The impact of genome-wide association studies on biomedical research publications
Struck, Travis J.
,
Mannakee, Brian K.
,
Gutenkunst, Ryan N.
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 836 KB
Your tags:
english, 2018
41
Secondary findings in 421 whole exome-sequenced Chinese children
Chen, Wen
,
Li, Wenke
,
Ma, Yi
,
Zhang, Yujing
,
Han, Bianmei
,
Liu, Xuewen
,
Zhao, Kun
,
Zhang, Meixian
,
Mi, Jie
,
Fu, Yuanyuan
,
Zhou, Zhou
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 409 KB
Your tags:
english, 2018
42
Identification of TBX2 and TBX3 variants in patients with conotruncal heart defects by target sequencing
Xie, Huilin
,
Zhang, Erge
,
Hong, Nanchao
,
Fu, Qihua
,
Li, Fen
,
Chen, Sun
,
Yu, Yu
,
Sun, Kun
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 2.55 MB
Your tags:
english, 2018
43
Architecture of polymorphisms in the human genome reveals functionally important and positively selected variants in immune response and drug transporter genes
Jin, Yu
,
Wang, Jingbo
,
Bachtiar, Maulana
,
Chong, Samuel S.
,
Lee, Caroline G. L.
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 1.96 MB
Your tags:
english, 2018
44
Impact of ZBTB7A hypomethylation and expression patterns on treatment response to hydroxyurea
Chondrou, Vasiliki
,
Stavrou, Eleana F.
,
Markopoulos, Georgios
,
Kouraklis-Symeonidis, Alexandra
,
Fotopoulos, Vasilios
,
Symeonidis, Argiris
,
Vlachaki, Efthymia
,
Chalkia, Panagiota
,
Patrinos, George P.
,
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 2.96 MB
Your tags:
english, 2018
45
Identification of gross deletions in FBN1 gene by MLPA
Yang, Hang
,
Ma, Yanyun
,
Luo, Mingyao
,
Zhao, Kun
,
Zhang, Yinhui
,
Zhu, Guoyan
,
Sun, Xiaogang
,
Luo, Fanyan
,
Wang, Lin
,
Shu, Chang
,
Zhou, Zhou
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 1.66 MB
Your tags:
english, 2018
46
Multiple genotype–phenotype association study reveals intronic variant pair on SIDT2 associated with metabolic syndrome in a Korean population
Moon, Sanghoon
,
Lee, Young
,
Won, Sungho
,
Lee, Juyoung
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 935 KB
Your tags:
english, 2018
47
Link between short tandem repeats and translation initiation site selection
Arabfard, Masoud
,
Kavousi, Kaveh
,
Delbari, Ahmad
,
Ohadi, Mina
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 1.76 MB
Your tags:
english, 2018
48
Perceptions of students in health and molecular life sciences regarding pharmacogenomics and personalized medicine
Mahmutovic, Lejla
,
Akcesme, Betul
,
Durakovic, Camil
,
Akcesme, Faruk Berat
,
Maric, Aida
,
Adilovic, Muhamed
,
Hamad, Nour
,
Wjst, Matthias
,
Feeney, Oliver
,
Semiz, Sabina
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 646 KB
Your tags:
english, 2018
49
Bayesian variable selection for parametric survival model with applications to cancer omics data
Duan, Weiwei
,
Zhang, Ruyang
,
Zhao, Yang
,
Shen, Sipeng
,
Wei, Yongyue
,
Chen, Feng
,
Christiani, David C.
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 1.55 MB
Your tags:
english, 2018
50
Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance
Langerud, Jonas
,
Jarhelle, Elisabeth
,
Van Ghelue, Marijke
,
Ariansen, Sarah Louise
,
Iversen, Nina
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 1.99 MB
Your tags:
english, 2018
51
Identification of drug repurposing candidates based on a miRNA-mediated drug and pathway network for cardiac hypertrophy and acute myocardial infarction
Sun, Jiantao
,
Yang, Jiemei
,
Chi, Jing
,
Ding, Xue
,
Lv, Nan
Journal:
Human Genomics
Year:
2018
Language:
english
File:
PDF, 3.69 MB
Your tags:
english, 2018
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