김명신

  #유전 진단 #진단 혈액

학력

1999~2002
가톨릭대학교 임상병리학 박사
1997~1999
가톨릭대학교 임상병리학 석사
1989~1995
가톨릭대학교 의학 학사

경력

2014~현재
가톨릭대학교 의과대학 정교수
2000~2014
가톨릭대학교 의과대학 전임교수
1996~2000
성모병원 임상병리과 레지던트
1995~1996
성모병원 인턴

논문

2018 Dec
ANNALS OF PEDIATRIC ENDOCRINOLOGY & METABOLISM(2012년부터 게재) 공동저자
Nonautoimmune congenital hyperthyroidism due to p.Asp633Glu mutation in the TSHR gene

2018 Sep
EUROPEAN CYTOKINE NETWORK 공동저자
Cytokine and molecular networks in sepsis cases: a network biology approach

2018 Sep
ANNALS OF LABORATORY MEDICINE 교신저자
PCM1-JAK2 Fusion in a Patient With Acute Myeloid Leukemia

2018 Jul
PEDIATRIC BLOOD & CANCER 교신저자
Hereditary dehydrated stomatocytosis with splicing site mutation of PIEZO1 mimicking myelodysplastic syndrome diagnosed by targeted next-generation sequencing

2018 Jul
LABORATORY MEDICINE ONLINE 공동저자
SLC4A1 유전자 변이에 의한 한국인 유전구형적혈구증 2예

2018 Jul
LABORATORY MEDICINE ONLINE 공동저자
높은 침투도를 보인 BMPR2 Intron 3 Splice Site Pathogenic Variant와 연관된 폐동맥고혈압 한국인 가족 증례 보고

2018 Jul
ANNALS OF LABORATORY MEDICINE 공동저자
Diagnosis of Liver Fibrosis With Wisteria floribunda Agglutinin-Positive Mac-2 Binding Protein (WFA-M2BP) Among Chronic Hepatitis B Patients

2018 Jun
THERAPEUTIC DRUG MONITORING 교신저자
Measurement of Teicoplanin Concentration With Liquid Chromatography-Tandem Mass Spectrometry Method Demonstrates the Usefulness of Therapeutic Drug Monitoring in Hematologic Patient Populations

2018 Apr
CLINICA CHIMICA ACTA 교신저자
Heavy/light chain assay as a biomarker for diagnosis and follow-up of multiple myeloma

2018 Feb
JOURNAL OF MICROBIOLOGICAL METHODS 공동저자
Molecular drug resistance profiles of Mycobacterium tuberculosis from sputum specimens using ion semiconductor sequencing

2018 Jan
CELL DEATH & DISEASE 교신저자
Ubiquitin C decrement plays a pivotal role in replicative senescence of bone marrow mesenchymal stromal cells

2018 Jan
MEDICINE 공동저자
Targeted next-generation sequencing identifies a novel nonsense mutation in SPTB for hereditary spherocytosis: A case report of a Korean family

2017 Nov
KOREAN SOC LABORATORY MEDICINE 공동저자
Phenotype of a Patient With a 1p36.11-p35.3 Interstitial Deletion Encompassing the AHDC1

2017 Oct
대한흉부외과학회 공동저자
Birt-Hogg-Dube Syndrome Manifesting as Spontaneous Pneumothorax: A Novel Mutation of the Folliculin Gene

2017 Oct
대한재활의학회 공동저자
A Patient With Delayed Development Resulting From De Novo Duplication of 7q36.1-q36.3 and Deletion of 9p24.3

2017 Aug
대한안과학회 공동저자
유전자 분석을 통하여 증명된 반성유전 어린선에서의 전부 데스메막 이영양증 2예

2017 Jul
KOREAN SOC LABORATORY MEDICINE 교신저자
Hemoglobin Kansas: First Korean Family and Literature Review

2017 Jun
대한혈액학회 교신저자
Diagnostic approaches for inherited hemolytic anemia in the genetic era

2017 Apr
대한안과학회 공동저자
COL8A2 유전자 돌연변이 유무에 따른 푹스이상증의 임상적 특징 및 예후

2017 Apr
THE KOREAN SOCIETY FOR LABORATORY MEDICINE(대한진단검사의학회) 교신저자
GNAS 메틸화 이상으로 인한 거짓부갑상선기능저하증 Ib 1예

2017 Apr
대한암학회 공동저자
Outcome and prognostic factors for ETV6/RUNX1 positive pediatric acute lymphoblastic leukemia treated at a single institution in Korea

2017 Mar
KOREAN SOC LABORATORY MEDICINE 공동저자
Genetic Profiles of Korean Patients With Glucose-6-Phosphate Dehydrogenase Deficiency

2017 Jan
THE KOREAN SOCIETY FOR LABORATORY MEDICINE(대한진단검사의학회) 교신저자
FLT3-ITD 검출을 위한 절편분석법: 일반 중합효소연쇄반응 및 직접염기서열분석법과의 비교

2016 Dec
BONE MARROW TRANSPLANTATION 제1저자
Hemolytic anemia with null PKLR mutations identified using whole exome sequencing and cured by hematopoietic stem cell transplantation combined with splenectomy

2016 Dec
INFECTION AND CHEMOTHERAPY (구.감염과 화학요법) 교신저자
Budding Yeast Cells in Peripheral Blood Smear:Clue to Candidemia

2016 Nov
JOURNAL OF CLINICAL LABORATORY ANALYSIS 공동저자
Analytical Performance Evaluation of Infopia Element™ Auto-coding Blood Glucose Monitoring System for Self-Monitoring of Blood Glucose

2016 Oct
KOREAN JOURNAL OF PEDIATRICS 공동저자
Recurrent macrophage activation syndrome since toddler age in an adolescent boy with HLA B27 positive juvenile ankylosing spondylitis

2016 Sep
HAEMATOLOGICA 공동저자
Characterization of leukemias with ETV6-ABL1 fusion

2016 Sep
MOLECULAR MEDICINE REPORTS 교신저자
Molecular analysis of myocilin and optineurin genes in Korean primary glaucoma patients

2016 Aug
CANCER IMMUNOLOGY IMMUNOTHERAPY 공동저자
Circulating immune cell phenotype can predict the outcome of lenalidomide plus low-dose dexamethasone treatment in patients with refractory/relapsed multiple myeloma

2016 Aug
MOLECULAR CYTOGENETICS 공동저자
Identification of small marker chromosomes using microarray comparative genomic hybridization and multicolor fluorescent in situ hybridization

2016 Jul
CLINICAL LABORATORY 공동저자
Evaluation of the performance of two point-of-care analyzers for total cholesterol, triglyceride, and high-density lipoprotein cholesterol analysis

2016 Jul
EXPERIMENTAL AND MOLECULAR MEDICINE 교신저자
Genetic?pathologic characterization of myeloproliferative neoplasms

2016 Jul
CLINICAL GENETICS 교신저자
Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis

2016 Jul
BIOMEDICAL REPORTS 공동저자
A twin sibling with Prader-Willi syndrome caused by type 2 microdeletion following assisted reproductive technology: A case report

2016 Jul
ANNALS OF LABORATORY MEDICINE(구.KOREAN JOURNAL OF LABORATORY MEDICINE) 공동저자
Molecular Features of Three Children Diagnosed With Early T-Cell Precursor Acute Lymphoblastic Leukemia

2016 Jun
CLINICAL GENETICS 교신저자
Mutational spectrum of Korean patients with corneal dystrophy

2016 May
ANNALS OF LABORATORY MEDICINE(구.KOREAN JOURNAL OF LABORATORY MEDICINE) 교신저자
Potential Risk Factors Associated With Vascular Diseases in Patients Receiving Treatment for Hypertension

2016 Apr
SCIENTIFIC REPORTS 교신저자
Tissue-specific Differentiation Potency of Mesenchymal Stromal Cells from Perinatal Tissues

2016 Mar
BLOOD RESEARCH(구 대한혈액학회지/2013년 이후 게재) 교신저자
Extranasal natural killer/T-cell lymphoma initially presenting as myelofibrosis

2016 Mar
ANNALS OF LABORATORY MEDICINE(구.KOREAN JOURNAL OF LABORATORY MEDICINE) 교신저자
A Novel Syntaxin 11 Gene (STX11) Mutation c.650T > C, p.Leu217Pro, in a Korean Child With Familial Hemophagocytic Lymphohistiocytosis

2016 Mar
ANNALS OF LABORATORY MEDICINE(구.KOREAN JOURNAL OF LABORATORY MEDICINE) 교신저자
Comparison of Targeted Next-Generation and Sanger Sequencing for the BRCA1 and BRCA2 Mutation Screening

2016 Jan
BLOOD CANCER JOURNAL 교신저자
Significance of KIT exon 17 mutation depends on mutant level rather than positivity in core-binding factor acute myeloid leukemia

2016 Jan
TUMOR BIOLOGY 공동저자
Serum lactate dehydrogenase levels at presentation in stage IV non-small cell lung cancer: predictive value of metastases and relation to survival outcomes

2015 Dec
CYTOTHERAPY 교신저자
The effect of fibroblast growth factor on distinct differentiation potential of cord blood-derived unrestricted somatic stem cells and Wharton's jelly-derived mesenchymal stem/stromal cells

2015 Nov
JOURNAL OF CLINICAL LABORATORY ANALYSIS 공동저자
Fragmented Red Cell as a Possible Favorable Prognostic Marker of Hematopoietic Stem Cell Transplantation Associated Thrombotic Microangiopathy

2015 Nov
THROMBOSIS RESEARCH 공동저자
Clinical outcomes of venous thromboembolism with dalteparin therapy in multiple myeloma patients

2015 Oct
MOLECULAR VISION 교신저자
Molecular analysis of the CHST6 gene in Korean patients with macular corneal dystrophy: Identification of three novel mutations

2015 Oct
CLINICA CHIMICA ACTA 교신저자
Determination of posaconazole concentration with LC-MS/MS in adult patients with hematologic malignancy

2015 Sep
HEMATOLOGICAL ONCOLOGY 공동저자
Novel oncogenic PTPN11 mutations in myelodysplastic syndrome in Korean patients

2015 Sep
JOURNAL OF DERMATOLOGY 교신저자
Novel FLG null mutations in Korean patients with atopic dermatitis and comparison of the mutational spectra in Asian populations

2015 Sep
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 교신저자
Autistic and Rett-Like Features Associated with 2q33.3-q34 Interstitial Deletion

2015 Aug
BONE MARROW TRANSPLANTATION 제1저자
Mutation in TET2 or TP53 predicts poor survival in patients with myelodysplastic syndrome receiving hypomethylating treatment or stem cell transplantation

2015 Aug
BLOOD CANCER JOURNAL 교신저자
Quantitative fragment analysis of FLT3-ITD efficiently identifying poor prognostic group with high mutant allele burden or long ITD length

2015 Jul
JOURNAL OF MATERIALS CHEMISTRY B 공동저자
3D printing technology to control BMP-2 and VEGF delivery spatially and temporally to promote large-volume bone regeneration

2015 Jun
CANCER RESEARCH 공동저자
Microenvironmental Remodeling as a Parameter and Prognostic Factor of Heterogeneous Leukemogenesis in Acute Myelogenous Leukemia

2015 Jun
INTERNATIONAL JOURNAL OF HEMATOLOGY 공동저자
Two cases of concurrent development of essential thrombocythemia with chronic lymphocytic leukemia, one related to clonal B-cell lymphocytosis, tested by array comparative genomic hybridization

2015 May
ANNALS OF LABORATORY MEDICINE(구.KOREAN JOURNAL OF LABORATORY MEDICINE) 교신저자
T618I-Mutated Colony Stimulating Factor 3 Receptor in Chronic Neutrophilic Leukemia and Chronic Myelomonocytic Leukemia Patients who Underwent Allogeneic Stem Cell Transplantation

2015 May
ANNALS OF HUMAN GENETICS 교신저자
Founder Haplotype Analysis of Fanconi Anemia in the Korean Population Finds Common Ancestral Haplotypes for a FANCG Variant

2015 May
MOLECULAR MEDICINE REPORTS 교신저자
Novel 5.712 kb mitochondrial DNA deletion in a patient with Pearson syndrome: A case report

2015 Mar
Journal of laboratory medicine and quality assurance 교신저자
Comparison of the Real-Time PCR Tests for Factor V G1691A and Prothrombin G20210A with PCRRestriction Fragment Length Polymorphism and Direct Sequencing Tests

2015 Mar
CLINICAL CHEMISTRY AND LABORATORY MEDICINE 공동저자
Diagnosis and evaluation of severity of sepsis via the use of biomarkers and profiles of 13 cytokines: a multiplex analysis

2015 Mar
ANNALS OF LABORATORY MEDICINE(구.KOREAN JOURNAL OF LABORATORY MEDICINE) 교신저자
Two Cases of Shwachman-Diamond Syndrome in Adolescents Confirmed by Genetic Analysis

2015 Mar
STEM CELL RESEARCH 교신저자
Genetic and epigenetic alterations of bone marrow stromal cells in myelodysplastic syndrome and acute myeloid leukemia patients

2015 Mar
BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION 공동저자
Wilms Tumor Gene 1 Expression as a Predictive Marker for Relapse and Survival after Hematopoietic Stem Cell Transplantation for Myelodysplastic Syndromes

2015 Mar
BONE MARROW TRANSPLANTATION 제1저자
Impact of IKZF1 deletions on long-term outcomes of allo-SCT following imatinib-based chemotherapy in adult Philadelphia chromosome-positive ALL

2015 Feb
MOLECULAR BIOLOGY REPORTS 제1저자
FLT3 expression and IL10 promoter polymorphism in acute myeloid leukemia with RUNX1-RUNX1T1

2015 Jan
ANNALS OF LABORATORY MEDICINE(구.KOREAN JOURNAL OF LABORATORY MEDICINE) 공동저자
Flow Cytometric White Blood Cell Differential Using CytoDiff is Excellent for Counting Blasts

2015 Jan
ANNALS OF LABORATORY MEDICINE(구.KOREAN JOURNAL OF LABORATORY MEDICINE) 공동저자
Identification of Compound Heterozygous Mutations in the BBS7 Gene in a Korean Family with Bardet-Biedl Syndrome

2014 Dec
HEMATOLOGICAL ONCOLOGY 교신저자
Validation of Western common recurrent chromosomal aberrations in Korean chronic lymphocytic leukaemia patients with very low incidence

2014 Nov
BMC MUSCULOSKELETAL DISORDERS 교신저자
Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report

2014 Nov
JOURNAL OF CLINICAL LABORATORY ANALYSIS 공동저자
New Proposed Guidelines for Early Identification of Successful Myeloid and Erythroid Engraftment in Hematopoietic Stem Cell Transplantation

2014 Nov
CLINICAL PEDIATRIC HEMATOLOGY-ONCOLOGY 공동저자
Clinical and laboratory features of severe neutropenia developed in childhood.

2014 Oct
LABORATORY MEDICINE ONLINE 공동저자
Evaluation of the Verigene Warfarin Metabolism Nucleic Acid Test Kit for the Rapid Detection of CYP2C9 and VKORC1 Polymorphisms

2014 Oct
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE 교신저자
Pathogenic mitochondrial DNA mutations and associated clinical features in Korean patients with Leber’s hereditary optic neuropathy

2014 Aug
GENES CHROMOSOMES & CANCER 제1저자
Copy Number Variations Could Predict the Outcome of Bortezomib Plus Melphalan and Prednisone for Initial Treatment of Multiple Myeloma

2014 Aug
CLINICAL LYMPHOMA MYELOMA & LEUKEMIA 공동저자
Neutrophil Gelatinase-Associated Lipocalin as a Biomarker of Renal Impairment in Patients With Multiple Myeloma.

2014 Aug
KOREAN JOURNAL OF PEDIATRICS 교신저자
Current insights into inherited bone marrow failure syndromes

2014 May
JOURNAL OF CLINICAL LABORATORY ANALYSIS 공동저자
The Analytical Performance Evaluation of Freelite (TM) Human Kappa Free and Human Lambda Free on the SPAPLUS (TM) Immunoturbidimetric Analyzer

2014 May
BIOMED RESEARCH INTERNATIONAL(2013년부터 게재/구.JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY) 공동저자
Bone Marrow Plasma Cell Assessment before Peripheral Blood Stem Cell Mobilization in Patients with Multiple Myeloma Undergoing Autologous Stem Cell Transplantation

저서

2014 Mar
범문에듀케이션 공동
진단검사의학

2011 Aug
Intech 공동
Genetics and etiology of Down syndrome

2018 May
범문에듀케이션 공동
혈액학

보도자료

[건강 팁-유전자검사] 유전성 암 발병 위험 체크... 예방·조기진단·치료 도움
https://www.sedaily.com/NewsView/1VJ6EHKGEQhttps://www.sedaily.com/NewsView/1VJ6EHKGEQ

발달장애·자폐진단 3배 더 정확해졌다
https://www.sedaily.com/NewsView/1VJ2A9BLRN

"발달장애·자폐 등 유전체 검사로 진단 가능…검출률 19.8%"
https://www.yna.co.kr/view/AKR20190507077900017?input=1195m

포스팅

포스팅 내용이 없습니다.

영상자료

영상자료 내용이 없습니다.

발표자료

발표자료 내용이 없습니다.