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 for Elucidating an Intronic Variant of Uncertain Significance ( SDHD c.314+3A>T) in Splicing Site Consensus Sequences

Gu Hyunjung ,  Hong Jinyoung ,  Lee Woochang 외 3명

Annals of Laboratory Medicine

2022 .05

Novel Nonsense Variants c.58C>T (p.Q20X) and c.256G>T (p.E85X) in the CHEK2 Gene Identified in Breast Cancer Patients from Balochistan

Baloch ,  Abdul Hameed ,  Khosa 외 21명

Asian Pacific journal of cancer prevention : APJCP

2016 .01

Novel Nonsense Variants c.58C>T (p.Q20X) and c.256G>T (p.E85X) in the CHEK2 Gene Identified dentified in Breast Cancer Patients from Balochistan

Baloch ,  Abdul Hameed ,  Khosa 외 21명

Asian Pacific journal of cancer prevention : APJCP

2016 .01

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

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

Clinical Validity of Next-Generation Sequencing Multi-Gene Panel Testing for Detecting Pathogenic Variants in Patients With Hereditary Breast-Ovarian Cancer Syndrome

김명신 ,  Jaeeun Yoo ,  Gun Dong Lee 외 5명

Annals of Laboratory Medicine

2020 .01

Status of the SARS-CoV-2 Mutant Virus (Delta, Omicron) outbreak in Chungcheongnamdo, Korea in Early 2022

KyungA Yun ,  Ji Hee Kim ,  Na Hee Kwon 외 3명

JOURNAL OF BACTERIOLOGY AND VIROLOGY

2022 .12

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

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

Validation of Pathogenicity of Gene Variants in Fanconi Anemia Using Patient-derived Dermal Fibroblasts

Pa ,  k Seon Young ,  Lee Jong-Mi 외 5명

Annals of Laboratory Medicine

2023 .01

Re-Classification of the BRCA1 C.5339T>C (p.L1780P) Variant: Clinical Evidence

Jai Min Ryu ,  Goeun Kang ,  Seok Jin Nam 외 9명

대한외과학회 학술대회 초록집

2016 .11