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[카테고리:] 논문 (Publication)

Identification of a Pathogenic RECQL4 1.6-kb Deletion-Insertion in a Neonate with Atypical Skeletal Phenotype of Baller-Gerold Syndrome Using Rapid Whole-Genome Sequencing

10월 13, 2026

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Claire

안 논문 (Publication)
Mechanistic Synergy in Multi-Modal VEP: DNA Context Complements PLMs under Biophysical Constraints

10월 13, 2026

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Claire

안 논문 (Publication)
Decoding Loss-of-Function Variants with Sparse Concept Features of ESM-2

10월 13, 2026

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Claire

안 논문 (Publication)
AIVARI Agent: An Evidence-Grounded Agentic LLM for Variant Reportability and Interpretation

10월 13, 2026

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Claire

안 논문 (Publication)
AnomalyModifier: Suppressor Modifier Discovery in Familial Hypercholesterolemia via One-Class Anomaly Detection

10월 13, 2026

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Claire

안 논문 (Publication)
MLIP-Related Myopathy: Two Unreported Pathogenic Variants – A Case Report

7월 28, 2026

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Claire

안 논문 (Publication)
Autosomal Dominant Missense DAG1 Variant Linked to Mild-Moderate LGMD R16

7월 28, 2026

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Claire

안 논문 (Publication)
A CLN8 biallelic missense variant causes epilepsy with severe treatment-resistant psychosis

7월 28, 2026

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Claire

안 논문 (Publication)
Whole Exome Sequencing Reveals Promising Genes Associated with Congenital Renal Parenchymal Anomalies in Greek Children

7월 28, 2026

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Claire

안 논문 (Publication)
Expanding the Clinical and Genetic Landscape of UQCRC2-related Mitochondrial Complex III Deficiency: A Case Report and Literature Review

7월 28, 2026

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Claire

안 논문 (Publication)