Variants Of Uncertain Significance (vus) - Epidemiology

Relevant Publications

Genetic analysis of congenital unilateral renal agenesis in children based on next-generation sequencing.

Issue Release: 2024

Investigating cardiac genetic background in sudden infant death syndrome (SIDS).

Issue Release: 2024

Multimodal framework to resolve variants of uncertain significance in .

Issue Release: 2024

Aberrant Splicing of Intronic Variant Contribute to the Pathogenesis of X-Linked Alport Syndrome: A Case Series.

Issue Release: 2024

Variant classification changes over time in the clinical molecular diagnostic laboratory setting.

Issue Release: 2024

A novel framework for functional annotation of variants of uncertain significance in ID/ASD risk gene CC2D1A.

Issue Release: 2024

Case report: Novel genotype of ALG2-CDG and confirmation of the heptasaccharide glycan (NeuAc-Gal-GlcNAc-Man2-GlcNAc2) as a specific diagnostic biomarker.

Issue Release: 2024

Systematic large-scale application of ClinGen InSiGHT -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases.

Issue Release: 2024

Reclassification of Variants Following Renal Genetics Testing: Uncommon Yet Impactful for Diagnosis and Management.

Issue Release: 2024

Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses.

Issue Release: 2024

Genetic etiology study in a large cohort with congenital insensitivity to pain with anhidrosis.

Issue Release: 2024

Molecular genetic screening after non-ischaemic sudden cardiac arrest and no overt cardiomyopathy in real life: A major tool for the aetiological diagnostic work-up.

Issue Release: 2024

Classification of MLH1 Missense VUS Using Protein Structure-Based Deep Learning-Ramachandran Plot-Molecular Dynamics Simulations Method.

Issue Release: 2024

Homozygous variant of MLC1 results in megalencephalic leukoencephalopathy with subcortical cysts.

Issue Release: 2024

Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohort.

Issue Release: 2024

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.

Issue Release: 2024

Mutational scanning of classifies clinical variants and reveals biochemical properties of the transcriptional effector domain.

Issue Release: 2024

A nonsense variant is associated with congenital anomalies, motor delay, hypotonia, and slight deformities.

Issue Release: 2024

Genetic, clinical and imaging implications of a noncompaction phenotype population with preserved ejection fraction.

Issue Release: 2024

Capture-based targeted sequencing using a T-cell control in myeloid malignancies and idiopathic cytopenias.

Issue Release: 2024

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