Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward. [PDF]
Front GenetJiang M +5 more
europepmc +1 more source
Exome sequencing and digital PCR analyses reveal novel mutated genes related to the metastasis of pancreatic ductal adenocarcinoma [PDF]
, 2012 Bin Zhou +11 more
openalex +1 more source
Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing. [PDF]
Front GenetMaggo S +6 more
europepmc +1 more source
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
, 2012 Stephan Sanders +29 more
openalex +2 more sources
Cancer Communications, EarlyView.Abstract Background Diffuse large B‐cell lymphoma (DLBCL) is the most common subtype of aggressive non‐Hodgkin's lymphoma with distinct clinical and molecular heterogeneity. DLBCL that arises in extranodal organs is particularly linked to poor prognosis. This study aimed to determine the clinical and molecular characteristics of extranodal involvement (
Si‐Yuan Chen +46 more
wiley +1 more source
Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: Diagnosis and novel mutation revealed by exome sequencing [PDF]
, 2012 Jaeseung Kim +7 more
openalex +1 more source
Cancer Communications, EarlyView.Abstract Background Intrahepatic cholangiocarcinoma (ICC) is a challenging cancer with an increasing incidence. The Phase III TOPAZ‐1/KEYNOTE‐966 study demonstrated chemo‐immunotherapy (CIT) as a significant advancement, potentially replacing traditional chemotherapy for advanced biliary tract cancer.
Jinghan Zhu +12 more
wiley +1 more source
Application of Whole-Exome Sequencing (WES) for Prenatal Determination of Causes of Fetal Abnormalities. [PDF]
Genes (Basel)Guseva M +8 more
europepmc +1 more source
Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM 1 -gangliosidosis [PDF]
, 2012 Tyler Mark Pierson +15 more
openalex +1 more source