Results 221 to 230 of about 125,953 (296)

New Genetic Associations Detected in an Exome-Wide Association Study for Toxicity Related to Thiopurine Treatments in Inflammatory Bowel Disease

, 2011
María Chaparro, William Zabala‐Fernández, Manuel Barreiro‐de Acosta, Julián Panés, María Esteve, Montserrat Andreu, Esther García-Planella, Eugeni Domènech, Ana Echarri, Daniel Carpio, Raquel Cruz, Francisco Barros, Javier P. Gisbert   +12 more
openalex   +1 more source

Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways. [PDF]

Sci Rep
Alnaqbi H, Olbrich M, Zayed N, Mousa M, Azzam S, Tirmazy SH, Alsafar H.   +6 more
europepmc   +1 more source

Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: Implications for application to clinical testing

, 2011
Jonathan S. Berg, James P. Evans, Margaret W. Leigh, Heymut Omran, Chris Bizon, Ketan K. Mane, Michael R. Knowles, Karen E. Weck, Maimoona A. Zariwala   +8 more
openalex   +2 more sources

Etiological diagnosis of miscarriage by combining use of chromosomal microarray analysis and whole-exome sequencing. [PDF]

Eur J Med Res
Zhuang J, Fu W, Gu L, Ye X, Wang J, Chen C.   +5 more
europepmc   +1 more source

Massively parallel sequencing of the mouse exome to accurately identify rare, induced mutations: an immediate source for thousands of new mouse models

, 2012
T. Daniel Andrews, B Whittle, Matthew A. Field, Bhavani Balakishnan, Yuxi Zhang, Yi-Hong Shao, V. Cho, Martyn Kirk, Mandeep Singh, Yu Xia, Jörg Hager, S. Winslade, G. Sjollema, Bruce Beutler, Anselm Enders, Christopher C. Goodnow   +15 more
openalex   +1 more source

Widespread Skin Telangiectasias in Spinocerebellar Ataxia Type 27B

Annals of Neurology, EarlyView.
Victor Alm, Håkan Thonberg, Per Svenningsson, Martin Paucar   +3 more
wiley   +1 more source

Navigating Pharmacogenomic Testing in Practice: Who to Test and When to Test

Clinical Pharmacology &Therapeutics, EarlyView.
There is increasing attention on the clinical utility and value of pharmacogenetic (PGx) testing to individualize medication management. Most clinical practice guidelines from medical professional societies do not recommend routine PGx testing, with a few key exceptions.
James M. Stevenson, D. Max Smith, Sony Tuteja, Jai N. Patel, on behalf of the Pharmacogenomics Global Research Network (PGRN) Publications Committee   +4 more
wiley   +1 more source

Corrigendum: Corrigendum: Application of rapid clinical exome sequencing technology in the diagnosis of critically ill pediatric patients with suspected genetic diseases. [PDF]

Front Genet
Ouyang X, Chi D, Zhang Y, Yu T, Zhang Q, Xu L, Zhang VW, Wang B.   +7 more
europepmc   +1 more source

Case Report: <i>De novo</i> variant of the <i>NUS1</i> gene associated with developmental delay and autism spectrum disorders in a Chinese family. [PDF]

Front Pediatr
Ding F, Pan J, Ji S, Zhang Y, Hou J, Shi N, Liu H.   +6 more
europepmc   +1 more source

Heritability and causality of QRS duration and chronic heart failure risk

ESC Heart Failure, EarlyView.
Methodological framework used to investigate the heritability using linkage disequilibrium score regression (LDSC) and causal relationship between QRS duration (exposure) and chronic heart failure (outcome) using Mendelian randomization. QRS data were sourced from GWAS and exome‐wide association studies (EWAS), and chronic heart failure GWAS data were ...
Zequn Zheng, Xinhan Li, Yongfei Song
wiley   +1 more source