Whole-exome sequencing - Open Access .click

Results 191 to 200 of about 102,585 (258)

The Global Parkinson's Disease Genetics (GP2) Genome Browser

Movement Disorders, EarlyView.
Abstract Background Large‐scale sequencing initiatives have generated extensive genomic resources essential for variant interpretation, yet their effective use often requires bioinformatics expertise. To support identification of Parkinson's disease (PD) risk and disease‐causing variants, we developed an open‐access, summary‐level genomic data browser.
Zih‐Hua Fang +15 more
wiley +1 more source

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

PLoS One
Kang N +6 more
europepmc +1 more source

Epileptic–Dyskinetic Encephalopathy Associated with a PPP3CA Variant: Expansion of the Phenotypic Spectrum

Movement Disorders Clinical Practice, EarlyView.
Bruno Antunes Contrucci +10 more
wiley +1 more source

Heterogenous Neuropathology in a Pedigree with RAB39B‐Related Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background In 2015, we reported a family with Parkinson's disease resulting from the RAB39B p.G192R (c.574G>A) variant. Since then, two affected brothers from the family have undergone autopsy. Objectives To characterize neuropathological findings, assess intracellular distribution of RAB39B protein, and examine the effect of p.G192R on α ...
Caitlin Latimer +15 more
wiley +1 more source

The Utility of Whole Exome Sequencing in Fetuses With Isolated Increased Nuchal Translucency. [PDF]

Mol Genet Genomic Med
Wang H, Luo C, Geng Q, Xu X, Liu Y.
europepmc +1 more source

GLUT1 Deficiency Syndrome with Coexistent Movement Disorder and Anemia

Movement Disorders Clinical Practice, EarlyView.
Sangeetha Yoganathan +12 more
wiley +1 more source

From Uncertainty to Pathogenicity: Resolving a CSF1R Variant of Uncertain Significance Using Long‐Read Transcriptomics

Movement Disorders, EarlyView.
Abstract Background CSF1R‐related disorder (CSF1R‐RD) is a severe autosomal dominant leukoencephalopathy characterized by progressive cognitive, neuropsychiatric, and motor decline. Although genetic testing is widely available, numerous likely pathogenic variants in CSF1R frequently remain classified as variants of uncertain significance (VUS ...
Charles Wade +8 more
wiley +1 more source

Broader gene representation by whole-exome sequencing improves accuracy of tumor mutational burden assessment for selection of pembrolizumab immunotherapy. [PDF]

Cancer Immunol Immunother
Radovich M +15 more
europepmc +1 more source

Frequency of ZFHX3‐Mediated Spinocerebellar Ataxia 4 in a US Undiagnosed Ataxia Cohort

Movement Disorders, EarlyView.
Abstract Background Spinocerebellar ataxia 4 (SCA4) is a late‐onset dominant ataxia with neuropathy caused by exonic GGC repeat expansion in the ZFHX3 gene thought to originate from a Swedish founder event. The GC‐rich expansion is highly thermodynamically stable, posing challenges for standard clinical genetic testing methods.
Annie Chen +320 more
wiley +1 more source

humans
3. good health
exome

whole exome sequencing
sequence analysis, dna
exome sequencing

female
male
genetic predisposition to disease