Results 251 to 260 of about 207,257 (328)

Identification of candidate genes associated with bipolar disorder by whole-exome sequencing of a Chinese multi-affected pedigree. [PDF]

BMC Psychiatry
Wang Y, Xu Z, Zhang Y, Li H.
europepmc   +1 more source

Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.

JAMA Netw Open
Lan X, Tang X, Weng W, Xu W, Song X, Yang Y, Sun H, Ye H, Zhang H, Yu G, Wu S.   +10 more
europepmc   +1 more source

Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population. [PDF]

Sci Rep
Heutinck PAT, Iglesias AI, Farhud DD, van Tienhoven M, Khoshraftar A, Zarif-Yeganeh M, Kia SK, Ghanbari M, Smoor MA, Klaver CCW, Hoefsloot LH, Thiadens AAHJ, Verhoeven VJM.   +12 more
europepmc   +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

Whole exome sequencing as a screening tool in dogs: A pilot study. [PDF]

Comput Struct Biotechnol J
Boeykens F, Bogaerts E, Vossaert L, Peelman L, Van Nieuwerburgh F, Saunders JH, Broeckx BJG.   +6 more
europepmc   +1 more source

Whole-genome and whole-exome sequencing of Mayer-Rokitansky-Küster-Hauser syndrome-discordant monozygotic twins. [PDF]

J Assist Reprod Genet
Ma W, Fu F, Wang W, Ma X, Wang S, Wang M, Li Y.   +6 more
europepmc   +1 more source

Association of clonal haematopoiesis with heart failure incidence and outcomes: A systematic review and meta‐analysis

European Journal of Heart Failure, EarlyView.
Association of clonal haematopoiesis with heart failure incidence and outcomes: A systematic review and meta‐analysis. Clonal haematopoiesis and heart failure: a meta‐analysis. CH, clonal haematopoiesis; CI, confidence interval; HF, heart failure. [Correction added on 15 March 2025, after first online publication: The graphical image was corrected in ...
Paschalis Karakasis, Eleftheria Lefkou, Konstantinos Pamporis, Dimitrios Farmakis, Dimitrios Patoulias, Antonios P. Antoniadis, Stephane Heymans, Gerasimos Filippatos, Nikolaos Fragakis   +8 more
wiley   +1 more source

Rare damaging variants in the sex differences of congenital heart disease: an exome sequencing study. [PDF]

EBioMedicine
Sun H, Hao X, Liu H, Zhang S, Han J, Zhang Y, Liu T, Yang X, Wang H, Fan J, Guan Y, Peng N, Xie J, Xia H, Ji X, Xu Y, Zhang J, Wang J, Lan F, Zhang H, Gu X, He Y.   +21 more
europepmc   +1 more source

Genotype‐guided cardiac device intervention in LMNA‐related cardiac conduction disorder: The need for timely genetic testing

European Journal of Heart Failure, EarlyView.
Sudden cardiac death is a catastrophic event, making its prevention important. However, patient selection for primary prevention remains controversial. We report two cases of cardiac conduction disorder initially treated with permanent pacemaker implantation.
Shunsuke Inoue, Zhehao Dai, Tsukasa Oshima, Seitaro Nomura, Takashi Hiruma, Ryo Abe, Kanna Fujita, Manami Katoh, Toshiyuki Ko, Yu Shimizu, Masamichi Ito, Kenichiro Yamagata, Junichi Ishida, Eisuke Amiya, Masaru Hatano, Norifumi Takeda, Hiroyuki Morita, Katsuhito Fujiu, Norihiko Takeda, Issei Komuro   +19 more
wiley   +1 more source