Volume 12; Issue 1

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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:

Année:

2018

Langue:

english

Fichier:

PDF, 1.35 MB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 1.06 MB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 818 KB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 1.28 MB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 2.33 MB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 1.93 MB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 1.12 MB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 1.20 MB

english, 2018

9

Tensions in ethics and policy created by National Precision Medicine Programs

Minari, Jusaku, Brothers, Kyle B., Morrison, Michael

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 455 KB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 596 KB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 614 KB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 389 KB

english, 2018

13

Transcription start sites at the end of protein-coding genes

Huang, Ming-Yu, Liu, Ji-Long

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 767 KB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 303 KB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 1.22 MB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 3.09 MB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 396 KB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 1.39 MB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 5.36 MB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 968 KB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 3.40 MB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 1.53 MB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 500 KB

english, 2018

24

Nonparametric approaches for population structure analysis

Alhusain, Luluah, Hafez, Alaaeldin M.

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 595 KB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 955 KB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 1.60 MB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 734 KB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 1.16 MB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 5.96 MB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 1.54 MB

english, 2018

31

Abundance of clinical variants in exons included in multiple transcripts

Subramanian, Sankar

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 721 KB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 832 KB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 2.93 MB

english, 2018

34

Integrating rare genetic variants into pharmacogenetic drug response predictions

Ingelman-Sundberg, Magnus, Mkrtchian, Souren, Zhou, Yitian, Lauschke, Volker M.

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 997 KB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 1.06 MB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 738 KB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 3.35 MB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 793 KB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 4.28 MB

english, 2018

40

The impact of genome-wide association studies on biomedical research publications

Struck, Travis J., Mannakee, Brian K., Gutenkunst, Ryan N.

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 836 KB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 409 KB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 2.55 MB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 1.96 MB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 2.96 MB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 1.66 MB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 935 KB

english, 2018

47

Link between short tandem repeats and translation initiation site selection

Arabfard, Masoud, Kavousi, Kaveh, Delbari, Ahmad, Ohadi, Mina

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 1.76 MB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 646 KB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 1.55 MB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 1.99 MB

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:

Année:

2018

Langue:

english

Fichier:

PDF, 3.69 MB

english, 2018