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전문의

GC Labs의 전문의를 소개합니다.

이새미 Sae Mi Lee
분자진단검사
성균관대학교 의과대학원 (2017)
원광대학교 의과대학 의학사 (2012)
삼성서울병원 진단검사의학과 전공의 (2013~2017)
 
GC녹십자의료재단 전문의 (2018~)
GC지놈 의학본부 인간유전 담당 (2018~)
삼성서울병원 진단검사의학과 전임의 (2017~2018)
참여 학회 : 대한진단검사의학회, 대한진단유전학회
 
[대표논문, 학술발표]
- Development of an AI algorithm using cfDNA fragment
  distance for non-invasive prenatal testing. Front Genet. (2022)
- WGS Reveals a Novel Structural Variant of CCDC39 in a Term  
  Neonate with Primary Ciliary Dyskinesia. Ann Lab Med. (2022)
 
- 산모 혈액을 이용한 태아 염색체 이수성 선별검사. 대한임상화학회 (2023)
- Hereditary Cancer-associated Genes in Korean Exomes. 대한진단유전학회 (2018)
- GreenPlan HRD assay and TSO 500 HRD assay for assessing homologous 
  recombination deficiency in ovarian cancer. (2024)

 

  • Novel APC promoter 1B variant associated with gastric adenocarcinoma and proximal polyposis of the stomach: a case report
    2026Frontiers in Genetics이새미
  • 산모 혈액을 이용한 태아 염색체 이수성 선별검사
    2023대한임상화학회 2023년 추계학술대회이새미
  • Whole-genome Sequencing Reveals a Novel Structural Variant of CCDC39 in a Term Neonate with Primary Ciliary Dyskinesia
    2022Annals of Laboratory Medicine이새미
  • The First Korean Family with Aarskog-Scott Syndrome Harboring a Novel Mutation in FGD1 Diagnosed via Targeted Gene Panel Sequencing
    2020Annals of Clinical & Laboratory Science이새미
  • Methylmalonic Acid and Homocysteine as Indicators of Vitamin B12 Deficiency in Patients with Gastric Cancer after Gastrectomy
    2019Nutrients이새미
  • Actionable Pathogenic Incidental Findings in Hereditary Cancer-associated Genes in 1,022 Korean Exomes
    2018LMCE 2018 & KSLM 59th Annual Meeting이새미