Identification of a Novel Splice Variant (c.423-8A>G) of APC by RNA Sequencing

Kim A ,  am ,  Kim Hyun-Ki 외 7명

Annals of Laboratory Medicine

2020 .01

RNA Sequencing Provides Evidence for Pathogenicity of a Novel CHEK2 Splice Variant (C.1009-7T>G)

Na Rae ,  Hong Jinyoung ,  Gu Hyunjung 외 4명

Annals of Laboratory Medicine

2022 .05

Reverse Transcription-PCR-based Sanger Sequencing-confirmed Exon-skipping Effect of a Novel GEN1 Intronic Variant (c.1408+4A>G)

Kim Jiyeon ,  Yu Joonsang ,  Lee Seunghoo 외 4명

Annals of Laboratory Medicine

2024 .03

A Novel Splice Variant (c.438T>A) of APC, Suspected by Family History and Confirmed by RNA Sequencing

Lee Hee ,  ah ,  Kim Hyun-Ki 외 7명

Annals of Laboratory Medicine

2021 .01

Identification of Alternative Splicing and Fusion Transcripts in Non-Small Cell Lung Cancer by RNA Sequencing

Hong ,  Yoonki ,  Kim 외 7명

Tuberculosis and Respiratory Diseases

2016 .01

Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders

Mi-Ae Jang

Annals of Laboratory Medicine

2019 .01

Functional characterization of CXCR3 splicing variants and their ligands

THI HUONG NGUYEN ,  Jong-Ik Hwang

한국실험동물학회 학술발표대회 논문집

2022 .07

Tumor landscape drawn from single cell RNA sequencing

Hae-Ock Lee

한국실험동물학회 학술발표대회 논문집

2019 .01

Biomedical application of long non-coding RNA and circular RNA

Young-Kook Kim

한국실험동물학회 학술발표대회 논문집

2020 .07

Report of the Korean Association of External Quality Assessment Service on Next-Generation Sequencing Analysis for Somatic Variants (2018–2020)

Hongkyung Kim ,  Dongju Won ,  Saeam Shin 외 2명

Journal of Laboratory Medicine And Quality Assurance

2021 .01

Comparative evaluation of the developed targeted RNA sequencing system and a commercialized test panel

Young Eun Lee ,  Ju Heon Pa ,  k 외 4명

Blood Research

2022 .09

Clinical Presentation with High Penetrance in a Korean Family with Pulmonary Arterial Hypertension Associated with a BMPR2 Intron 3 Splice Site Pathogenic Variant

김미정 ,  이승옥 ,  제갈동욱 외 4명

Laboratory Medicine Online

2018 .01

Big data analysis for next generation sequencing (NGS)

Hyun-Yi Kim

한국실험동물학회 학술발표대회 논문집

2021 .07

Single-Cell RNA-Sequencing Reveals Placental Response under Environmental Stress

Hae-Ryung Pa ,  k ,  E 외 14명

환경독성보건학회 심포지엄 및 학술대회

2023 .11

Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses

김희정 ,  김순기 ,  유기영 외 5명

Annals of Laboratory Medicine

2019 .01

Re-evaluation of a Fibrillin-1 Gene Variant of Uncertain Significance Using the ClinGen Guidelines

Kim Seo Wan ,  Kim Boyeon ,  Kim Yoonjung 외 1명

Annals of Laboratory Medicine

2024 .05

한국인 신경섬유종증 1형 환자에서 관찰된 NF1 유전자 변이 분포

강현혜 ,  이재웅 ,  박준홍 외 4명

Laboratory Medicine Online

2021 .01

RNA Metabolism in T Lymphocytes

Jin Ouk Choi ,  Jeong Hyeon Ham ,  Soo Seok Hwang

Immune Network

2022 .10

Targeted Next-Generation Sequencing of Plasma Cell-Free DNA in Korean Patients with Hepatocellular Carcinoma

Chae Hyojin ,  Sung Pil Soo ,  Choi Hayoung 외 5명

Annals of Laboratory Medicine

2021 .01

AI-Augmented RNA Design

Jin-Wu Nam

한국실험동물학회 학술발표대회 논문집

2023 .02