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Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes

RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders

Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects

Genes, Vol. 13, Pages 1165: Novel Genetic Diagnoses in Septo-Optic Dysplasia

Physical exercise is a risk factor for amyotrophic lateral sclerosis: Convergent evidence from Mendelian randomisation, transcriptomics and risk genotypes

Functional Assays Reclassify Suspected Splice-Altering Variants of Uncertain Significance in Mendelian Channelopathies

Determining pathogenicity of variants of uncertain significance and identification of a founder variant in the epilepsy-associated gene, SZT2

Preimplantation genetic testing (PGT) for copy number variants of uncertain significance (CNV- VUS) in the genomic era: to do or not to do?

Functional CDKN2A assay identifies frequent deleterious alleles misclassified as variants of uncertain significance

Identification of deleterious variants of uncertain significance in BRCA2 BRC4 repeat through molecular dynamics simulations

Clinical phenotypes combined with saturation genome editing identifying the pathogenicity of BRCA1 variants of uncertain significance in breast cancer

A putative Lynch syndrome family carrying MSH2 and MSH6 variants of uncertain significance—functional analysis reveals the pathogenic one

Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis

Functional evaluation of gene mutations in Long QT Syndrome: strength of evidence from in vitro assays for deciphering variants of uncertain significance

Cancer patients’ understandings of genetic variants of uncertain significance in clinical care

Cancers, Vol. 12, Pages 3268: Results and Clinical Interpretation of Germline RET Analysis in a Series of Patients with Medullary Thyroid Carcinoma: The Challenge of the Variants of Uncertain Significance

Cancers, Vol. 12, Pages 3268: Results and Clinical Interpretation of Germline RET Analysis in a Series of Patients with Medullary Thyroid Carcinoma: The Challenge of the Variants of Uncertain Significance

Genes, Vol. 12, Pages 993: Functional Evaluation of Splicing for Variants of Uncertain Significance in Patients with Inherited Retinal Diseases

Genes, Vol. 12, Pages 993: Functional Evaluation of Splicing for Variants of Uncertain Significance in Patients with Inherited Retinal Diseases

Genes, Vol. 12, Pages 780: Imprecise Medicine: BRCA2 Variants of Uncertain Significance (VUS), the Challenges and Benefits to Integrate a Functional Assay Workflow with Clinical Decision Rules

Characterization of Genetic Variants of Uncertain Significance for the ALPL Gene in Patients With Adult Hypophosphatasia

Membranes, Vol. 11, Pages 599: L-Type Calcium Channel: Predicting Pathogenic/Likely Pathogenic Status for Variants of Uncertain Clinical Significance

Functional Categorization of BRCA1 Variants of Uncertain Clinical Significance in Homologous Recombination Repair Complementation Assays

Genes, Vol. 12, Pages 1930: Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene

Genes, Vol. 12, Pages 1930: Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene

Screening of dementia genes by whole-exome sequencing in Spanish patients with early-onset dementia: likely pathogenic, uncertain significance and risk variants.

Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance

Evaluation of Clinical Practices Related to Variants of Uncertain Significance Results in Inherited Cardiac Arrhythmia and Inherited Cardiomyopathy Genes.

Evaluation of Clinical Practices Related to Variants of Uncertain Significance Results in Inherited Cardiac Arrhythmia and Inherited Cardiomyopathy Genes.

A Phenotype-Enhanced Variant Classification Framework to Decrease the Burden of Missense Variants of Uncertain Significance in Type 1 Long QT Syndrome

Use of Machine Learning to Classify High Risk Variants of Uncertain Significance in Lamin A/C Cardiac Disease

Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance

Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance

Abstract WMP102: Prevalence Of Genetic Mutations In 15 Mendelian Stroke Genes In Young Stroke Patients

Targeted long-read sequencing resolves complex structural variants and identifies missing disease-causing variants

Impact of Variant Reclassification in Cancer Predisposition Genes on Clinical Care

Primary Myocardial Fibrosis as an Alternative Phenotype Pathway of Inherited Cardiac Structural Disorders.

Primary Myocardial Fibrosis as an Alternative Phenotype Pathway of Inherited Cardiac Structural Disorders.

Primary Myocardial Fibrosis as an Alternative Phenotype Pathway of Inherited Cardiac Structural Disorders

Significance of rare variants in genes involved in the pathogenesis of Lynch syndrome

Validation and clinical application of a targeted next-generation sequencing gene panel for solid and hematologic malignancies

Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases

Cardiogenetics, Vol. 11, Pages 73-83: Pathogenic Intronic Splice-Affecting Variants in MYBPC3 in Three Patients with Hypertrophic Cardiomyopathy

Using Co-segregation and Loss of Heterozygosity Analysis to Define the Pathogenicity of Unclassified Variants in Hereditary Breast Cancer Patients

Cancers, Vol. 12, Pages 3015: Genome-Wide Gene Expression Analyses of BRCA1- and BRCA2-Associated Breast and Ovarian Tumours

Value of systematic genetic screening of patients with amyotrophic lateral sclerosis

Fetal glycosylation defect due to ALG3 and GOG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype.

Biomedicines, Vol. 10, Pages 106: Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population

Genes, Vol. 12, Pages 868: Defects in GnRH Neuron Migration/Development and Hypothalamic-Pituitary Signaling Impact Clinical Variability of Kallmann Syndrome

A calibrated cell-based functional assay to aide classification of MLH1 DNA mismatch repair gene variants