Works matching IS 14739542 AND DT 2018 AND VI 12

Results: 52

Identification of drug repurposing candidates based on a miRNA-mediated drug and pathway network for cardiac hypertrophy and acute myocardial infarction.

Published in:

Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0184-0

By:

Sun, Jiantao;
Yang, Jiemei;
Chi, Jing;
Ding, Xue;
Lv, Nan

Publication type:

Article

Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance.

Published in:

Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0183-1

By:

Langerud, Jonas;
Jarhelle, Elisabeth;
Van Ghelue, Marijke;
Ariansen, Sarah Louise;
Iversen, Nina

Publication type:

Article

Perceptions of students in health and molecular life sciences regarding pharmacogenomics and personalized medicine.

Published in:

Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0182-2

By:

Mahmutovic, Lejla;
Akcesme, Betul;
Durakovic, Camil;
Akcesme, Faruk Berat;
Maric, Aida;
Adilovic, Muhamed;
Hamad, Nour;
Wjst, Matthias;
Feeney, Oliver;
Semiz, Sabina

Publication type:

Article

Bayesian variable selection for parametric survival model with applications to cancer omics data.

Published in:

Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0179-x

By:

Duan, Weiwei;
Zhang, Ruyang;
Zhao, Yang;
Shen, Sipeng;
Wei, Yongyue;
Chen, Feng;
Christiani, David C.

Publication type:

Article

Multiple genotype–phenotype association study reveals intronic variant pair on SIDT2 associated with metabolic syndrome in a Korean population.

Published in:

Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0180-4

By:

Moon, Sanghoon;
Lee, Young;
Won, Sungho;
Lee, Juyoung

Publication type:

Article

Link between short tandem repeats and translation initiation site selection.

Published in:

Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0181-3

By:

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

Publication type:

Article

Identification of gross deletions in FBN1 gene by MLPA.

Published in:

Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0178-y

By:

Yang, Hang;
Ma, Yanyun;
Luo, Mingyao;
Zhao, Kun;
Zhang, Yinhui;
Zhu, Guoyan;
Sun, Xiaogang;
Luo, Fanyan;
Wang, Lin;
Shu, Chang;
Zhou, Zhou

Publication type:

Article

Impact of ZBTB7A hypomethylation and expression patterns on treatment response to hydroxyurea.

Published in:

Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0177-z

By:

Chondrou, Vasiliki;
Stavrou, Eleana F.;
Markopoulos, Georgios;
Kouraklis-Symeonidis, Alexandra;
Fotopoulos, Vasilios;
Symeonidis, Argiris;
Vlachaki, Efthymia;
Chalkia, Panagiota;
Patrinos, George P.;
Papachatzopoulou, Adamantia;
Sgourou, Argyro

Publication type:

Article

Identification of TBX2 and TBX3 variants in patients with conotruncal heart defects by target sequencing.

Published in:

Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0176-0

By:

Xie, Huilin;
Zhang, Erge;
Hong, Nanchao;
Fu, Qihua;
Li, Fen;
Chen, Sun;
Yu, Yu;
Sun, Kun

Publication type:

Article

Architecture of polymorphisms in the human genome reveals functionally important and positively selected variants in immune response and drug transporter genes.

Published in:

Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0175-1

By:

Jin, Yu;
Wang, Jingbo;
Bachtiar, Maulana;
Chong, Samuel S.;
Lee, Caroline G. L.

Publication type:

Article

Secondary findings in 421 whole exome-sequenced Chinese children.

Published in:

Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0174-2

By:

Chen, Wen;
Li, Wenke;
Ma, Yi;
Zhang, Yujing;
Han, Bianmei;
Liu, Xuewen;
Zhao, Kun;
Zhang, Meixian;
Mi, Jie;
Fu, Yuanyuan;
Zhou, Zhou

Publication type:

Article

Linking a role of lncRNAs (long non-coding RNAs) with insulin resistance, accelerated senescence, and inflammation in patients with type 2 diabetes.

Published in:

Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0173-3

By:

Sathishkumar, Chandrakumar;
Prabu, Paramasivam;
Mohan, Viswanathan;
Balasubramanyam, Muthuswamy

Publication type:

Article

Forward and reverse mutations in stages of cancer development.

Published in:

Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0170-6

By:

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, Si;
Lee, Peggy;
Ng, Siu-Kin;
Ho, Timothy Y. C.;
Yang, Jianfeng;
Ding, Xiaofan

Publication type:

Article

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

Published in:

2018

By:

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

Publication type:

Letter

BRCA1 and BRCA2 mutations and clinical interpretation in 398 ovarian cancer patients: comparison with breast cancer variants in a similar population.

Published in:

Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0171-5

By:

Cardoso, Florencia C.;
Goncalves, Susana;
Mele, Pablo G.;
Liria, Natalia C.;
Sganga, Leonardo;
Diaz Perez, Ignacio;
Podesta, Ernesto J.;
Solano, Angela R.

Publication type:

Article

Associations of high-altitude polycythemia with polymorphisms in PIK3CD and COL4A3 in Tibetan populations.

Published in:

Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0169-z

By:

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

Publication type:

Article

The tale of histone modifications and its role in multiple sclerosis.

Published in:

Human Genomics, 2018, v. 12, n. 1, p. 1, doi. 10.1186/s40246-018-0163-5

By:

Hui He;
Zhiping Hu;
Han Xiao;
Fangfang Zhou;
Binbin Yang

Publication type:

Article

A novel <italic>LRAT</italic> mutation affecting splicing in a family with early onset retinitis pigmentosa.

Published in:

Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0165-3

By:

Chen, Yabin;
Huang, Li;
Jiao, Xiaodong;
Riazuddin, Sheikh;
Amer Riazuddin, S.;
Fielding Hetmancik, J.

Publication type:

Article

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Published in:

Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0167-1

By:

Fichna, Jakub Piotr;
Macias, Anna;
Piechota, Marcin;
Korostyński, Michał;
Potulska-Chromik, Anna;
Redowicz, Maria Jolanta;
Zekanowski, Cezary

Publication type:

Article

Abundance of clinical variants in exons included in multiple transcripts.

Published in:

2018

By:

Subramanian, Sankar

Publication type:

Letter

Caution needs to be taken when assigning transcription start sites to ends of protein-coding genes: a rebuttal.

Published in:

2018

By:

Sabath, Niv;
Vilborg, Anna;
Steitz, Joan A.;
Shalgi, Reut

Publication type:

Letter

A new bioinformatics tool to help assess the significance of <italic>BRCA1</italic> variants.

Published in:

Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0168-0

By:

Cusin, Isabelle;
Teixeira, Daniel;
Zahn-Zabal, Monique;
Rech de Laval, Valentine;
Gleizes, Anne;
Viassolo, Valeria;
Chappuis, Pierre O.;
Hutter, Pierre;
Bairoch, Amos;
Gaudet, Pascale

Publication type:

Article

Computational analysis of mRNA expression profiling in the inner ear reveals candidate transcription factors associated with proliferation, differentiation, and deafness.

Published in:

Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0161-7

By:

Perl, Kobi;
Shamir, Ron;
Avraham, Karen B.

Publication type:

Article

Associations between hypertension and the peroxisome proliferator-activated receptor-δ (<italic>PPARD</italic>) gene rs7770619 C>T polymorphism in a Korean population.

Published in:

Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0162-6

By:

Kim, Minjoo;
Kim, Minkyung;
Yoo, Hye Jin;
Shon, Jayoung;
Lee, Jong Ho

Publication type:

Article

Oxidative stress-induced chromosome breaks within the <italic>ABL</italic> gene: a model for chromosome rearrangement in nasopharyngeal carcinoma.

Published in:

Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0160-8

By:

Tan, Sang-Nee;
Sim, Sai-Peng;
Khoo, Alan Soo-Beng

Publication type:

Article

Integrating rare genetic variants into pharmacogenetic drug response predictions.

Published in:

Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0157-3

By:

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

Publication type:

Article

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.

Published in:

Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0158-2

By:

Elango, Tamilselvi;
Sun, Jingying;
Zhu, Caihong;
Zhou, Fusheng;
Zhang, Yaohua;
Sun, Liangdan;
Yang, Sen;
Zhang, Xuejun

Publication type:

Article

Nonparametric approaches for population structure analysis.

Published in:

Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0156-4

By:

Alhusain, Luluah;
Hafez, Alaaeldin M.

Publication type:

Article

Better governance, better access: practising responsible data sharing in the METADAC governance infrastructure.

Published in:

Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0154-6

By:

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;
Maughan, Barbara;
Mills, Melinda C.;
Minion, Joel T.;
Murphy, Tom;
Prior, Gillian;
Suderman, Matthew;
Ring, Susan M.;
Rogers, Nina T.;
Roberts, Stephanie J.

Publication type:

Article

Evaluation of a bone morphogenetic protein 6 variant as a cause of iron loading.

Published in:

Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0155-5

By:

McDonald, Cameron J.;
Rishi, Gautam;
Secondes, Eriza S.;
Ostini, Lesa;
Wallace, Daniel F.;
Crawford, Darrell H. G.;
Sia, Hanlon;
Clark, Paul;
Subramaniam, V. Nathan

Publication type:

Article

Tensions in ethics and policy created by National Precision Medicine Programs.

Published in:

Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0151-9

By:

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

Publication type:

Article

Public attitudes in Japan toward participation in whole genome sequencing studies.

Published in:

Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0153-7

By:

Okita, Taketoshi;
Ohashi, Noriko;
Kabata, Daijiro;
Shintani, Ayumi;
Kato, Kazuto

Publication type:

Article

Correlation of gene expression and associated mutation profiles of <italic>APOBEC3A</italic>, <italic>APOBEC3B</italic>, <italic>REV1</italic>, <italic>UNG</italic>, and <italic>FHIT</italic> with chemosensitivity of cancer cell lines to drug treatment.

Published in:

Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0150-x

By:

Vural, Suleyman;
Simon, Richard;
Krushkal, Julia

Publication type:

Article

The development of large-scale de-identified biomedical databases in the age of genomics—principles and challenges.

Published in:

Human Genomics, 2018, v. 12, n. 1, p. 1, doi. 10.1186/s40246-018-0147-5

By:

Dankar, Fida K.;
Ptitsyn, Andrey;
Dankar, Samar K.

Publication type:

Article

Molecular characterization of exonic rearrangements and frame shifts in the <italic>dystrophin</italic> gene in Duchenne muscular dystrophy patients in a Saudi community.

Published in:

Human Genomics, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s40246-018-0152-8

By:

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.

Publication type:

Article

Genome-scale portrait and evolutionary significance of human-specific core promoter tri- and tetranucleotide short tandem repeats.

Published in:

Human Genomics, 2018, v. 12, p. 1, doi. 10.1186/s40246-018-0149-3

By:

Nazaripanah, N.;
Adelirad, F.;
Delbari, A.;
Sahaf, R.;
Abbasi-Asl, T.;
Ohadi, M.

Publication type:

Article

Large-scale discovery of previously undetected microRNAs specific to human liver.

Published in:

Human Genomics, 2018, v. 12, p. 1, doi. 10.1186/s40246-018-0148-4

By:

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;
Lam, Wan L.

Publication type:

Article

Transcription start sites at the end of protein-coding genes.

Published in:

Human Genomics, 2018, v. 12, p. 1, doi. 10.1186/s40246-018-0146-6

By:

Huang, Ming-Yu;
Liu, Ji-Long

Publication type:

Article

Abstracts from the Human Genome Meeting 2018.

Published in:: Human Genomics, 2018, v. 12, p. 1, doi. 10.1186/s40246-018-0138-6
Publication type:: Article

APPLaUD: access for patients and participants to individual level uninterpreted genomic data.

Published in:

Human Genomics, 2018, v. 12, p. 1, doi. 10.1186/s40246-018-0139-5

By:

Thorogood, Adrian;
Bobe, Jason;
Prainsack, Barbara;
Middleton, Anna;
Scott, Erick;
Nelson, Sarah;
Corpas, Manuel;
Bonhomme, Natasha;
Rodriguez, Laura Lyman;
Murtagh, Madeleine;
Kleiderman, Erika;
on behalf of the Participant Values Task Team of the Global Alliance for Genomics and Health

Publication type:

Article

The genetic structure of the Belgian population.

Published in:

Human Genomics, 2018, v. 12, p. 1, doi. 10.1186/s40246-018-0136-8

By:

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, Stefaan;
Van den Bulcke, Marc;
Van Oyen, Herman

Publication type:

Article

2-deoxy-2-[18]fluoro-D-glucose PET/CT (18FDG PET/CT) may not be a viable biomarker in Pompe disease.

Published in:

Human Genomics, 2018, v. 12, p. 1, doi. 10.1186/s40246-018-0145-7

By:

Plöckinger, U.;
Prasad, V.;
Ziagaki, A.;
Tiling, N.;
Poellinger, A.

Publication type:

Article

A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features.

Published in:

Human Genomics, 2018, v. 12, p. 1, doi. 10.1186/s40246-018-0141-y

By:

Kellaris, Georgios;
Khan, Kamal;
Baig, Shahid M.;
I.-Chun Tsai;
Millan Zamora, Francisca;
Ruggieri, Paul;
Natowicz, Marvin R.;
Katsanis, Nicholas

Publication type:

Article

Yale School of Public Health Symposium on tissue imaging mass spectrometry: illuminating phenotypic heterogeneity and drug disposition at the molecular level.

Published in:

Human Genomics, 2018, v. 12, p. 1, doi. 10.1186/s40246-018-0142-x

By:

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, Kirill A.;
Johnson, Caroline H.;
Vasiliou, Vasilis

Publication type:

Article

Insights about genome function from spatial organization of the genome.

Published in:

Human Genomics, 2018, v. 12, p. 1, doi. 10.1186/s40246-018-0140-z

By:

Roy, Shuvra Shekhar;
Mukherjee, Ananda Kishore;
Chowdhury, Shantanu

Publication type:

Article

Including all voices in international data-sharing governance.

Published in:

Human Genomics, 2018, v. 12, p. 1, doi. 10.1186/s40246-018-0143-9

By:

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, Michael;
Minion, Joel T.;
Murtagh, Madeleine J.;
Minari, Jusaku;
Teare, Harriet;
Isasi, Rosario;
Kato, Kazuto;
Rial-Sebbag, Emmanuelle;
Marshall, Patricia

Publication type:

Article

Attitudes of stakeholders in psychiatry towards the inclusion of children in genomic research.

Published in:

Human Genomics, 2018, v. 12, p. 1, doi. 10.1186/s40246-018-0144-8

By:

Sundby, Anna;
Boolsen, Merete Watt;
Burgdorf, Kristoffer Sølvsten;
Ullum, Henrik;
Hansen, Thomas Folkmann;
Mors, Ole

Publication type:

Article

Meeting report of the 2017 KidGen Renal Genetics Symposium.

Published in:

Human Genomics, 2018, v. 12, p. 1, doi. 10.1186/s40246-018-0137-7

By:

Jayasinghe, Kushani;
Quinlan, Cathy;
Stark, Zornitza;
Patel, Chirag;
Sampson, Matthew G.;
Saleem, Moin;
Mallett, Andrew J.

Publication type:

Article

Beyond genomics: understanding exposotypes through metabolomics.

Published in:

Human Genomics, 2018, v. 12, p. 1, doi. 10.1186/s40246-018-0134-x

By:

Rattray, Nicholas J. W.;
Deziel, Nicole C.;
Wallach, Joshua D.;
Khan, Sajid A.;
Vasiliou, Vasilis;
Ioannidis, John P. A.;
Johnson, Caroline H.

Publication type:

Article

Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly.

Published in:

Human Genomics, 2018, v. 12, p. 1, doi. 10.1186/s40246-018-0135-9

By:

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

Publication type:

Article