Results 211 to 220 of about 215,860 (303)

Response to "Evaluation of severe male infertility". Perspectives of exome sequencing as the first-line genetic test in severe spermatogenic failure. [PDF]

F S Rep
Tjagur S, Punab M, Dutta A, Laan M.
europepmc   +1 more source

Narrative Genomics: Creating a Stage for Inquiry and Bioethics Education [PDF]

, 2020
Bush, Lynn Wein
core   +1 more source

Axenfeld-Rieger Syndrome with Negative Chromosomal Microarray and Whole-Exome Sequencing: A Case Report. [PDF]

Int Med Case Rep J
Moraes PC, Montalli VAM, Sperandio M, Dos Santos AM, Rosa ACG.   +4 more
europepmc   +1 more source

Whole-Exome Sequencing [PDF]

, 2019
openaire   +1 more source

Prenatal Exome Sequencing: When Does Diagnostic Yield Meet Clinical Utility? [PDF]

Genes (Basel)
Carrer A, Crupano FM, Rinaldi B, Scuvera G, Cesaretti C, Nicotra V, Gangi S, Colombo L, Araimo G, Tagliabue M, Marchetti D, Pezzoli L, Garzo M, Accurti V, Volpe G, Boito S, Finelli P, Fumagalli M, Bedeschi MF, Iascone M, Persico N, Natacci F.   +21 more
europepmc   +1 more source

Identification of an emerging heterozygous variant in KAT6A by whole exome sequencing: a case report. [PDF]

Transl Pediatr
Guo W, Wang H, Ling S, Liu T, Wang M, Zhang Y.   +5 more
europepmc   +1 more source

Gene signatures characterizing driver mutations in lung squamous carcinoma are predictive of the progression of pre‐cancer lesions

International Journal of Cancer, EarlyView.
What's New? Lung squamous cell carcinoma (LUSC) is more aggressive than lung adenocarcinoma, and is most often diagnosed at an advanced stage. Here, the authors evaluated gene expression data from LUSC tumors and came up with gene signatures for 34 genetic abnormalities whose expression changes throughout different precancerous stages. Several of these
Yupei Lin, Venugopalareddy Mekala, Jianrong Li, Xiang Wang, Muhammad Aminu, Jia Wu, Jianjun Zhang, Robert Taylor Ripley, Christopher I. Amos, Chao Cheng   +9 more
wiley   +1 more source

Screening for genetic kidney diseases in a dialysis cohort via exome sequencing. [PDF]

Clin Kidney J
Liu ZY, Zhang YL, Li Y, Han JF, Song ZR, Zhang JY, Qu TH, Xu R, Zhang H, Chen XL, Zhou XJ.   +10 more
europepmc   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

Correction: Genetic variations associated with immediate hypersensitivity reactions to iodinated contrast media: A whole exome sequencing study. [PDF]

PLoS One
PLOS One Staff.
europepmc   +1 more source