1 Chang SP， Ma GC， Chen M*， Wu SH*. Species and sex comparisons of karyotype and genome size in two Kurixalus tree frogs (Anura， Rhacophoridae). ACTA HERPETOLOGICA. 2017-09(Accepted). (Original Article， SCI， IF=0.654， Zoology: 127/163) Co-corresponding author.
2 Chen HF， Chen SU， Ma GC， Hsieh ST， Tsai HD， Yang YS， Chen M. Preimplantation Genetic Diagnosis and Screening: Current Status and Future Challenges. JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION. 2017-09. (In press). (Review， SCI， IF=1.969， Medicine， General & Internal: 46/154) doi: 10.1016/j.jfma.2017.08.006.
3 Chen CP， Chen M， Chern SR， Chang SP， Chen SW， Lai ST， Chen WL， Lee MS， Wang W. Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 21. TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY. 2017-08. 56(4):566-8. (Case Report， SCI)
4 Chen CP， Chen M， Wu CH， Lin CJ， Chern SR， Wu PS， Chen YN， Chen SW， Chang SP， Chen LF， Wang W. Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 21q11.2-q21.1 and a literature review. TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY. 2017-08. 56(4):554-7. (Case Report， SCI)
5 Chen CP， Chen M， Wang LK， Chern SR， Wu PS， Chen SW， Lai ST， Chang SP， Yang CW， Pan CW， Wang W. Detection of paternal uniparental disomy 9 in a neonate with prenatally detected mosaicism for a small supernumerary marker chromosome 9 and a supernumerary ring chromosome 9. TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY. 2017-08. 6(4):527-33. (Short Communication， SCI)
6 Chen CP， Chen M， Hwu YM， Chang SP， Chen SW， Lai ST， Lee CC， Wang W. Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 7 in the male partner of a phenotypically normal couple with repeated spontaneous abortions. TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY. 2017-06. 56(3):410-1. (Research Letter， SCI)
7 Chen CP， Chen M， Wang PT， Chern SR， Chen SW， Lai ST， Wu PS， Chang SP， Pan CW， Wang W. Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 11. TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY. 2017-06. 56(3):394-7. (Case Report， SCI)
8 Ma GC， Wu WJ， Lee MH， Lin YS， Chen M. Normal prenatal ultrasound findings reflect outcome in case of trisomy 14 confined placental mosaicism developing after preimplantation genetic diagnosis. ULTRASOUND IN OBSTETRICS & GYNECOLOGY. 2017-07. 50(1):128-130. (Letter to the Editor， SCI， IF=4.71， Obstetrics & Gynecology: 6/80; Acoustics: 1/32; Radiology， Nuclear Medicine & Medical Imaging: 11/126)
9 Wu WJ， Shih JC， Sago H， Chen M. Complete resolution of hydrops by placement of double basket catheter in a case of macrocystic type multilocular pulmonary sequestration. TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY. 2017-06. 56(3):402-5. (Case Report， SCI)
10 Chen CP， Chen M， Chang SP， Hung FY， Lee MJ， Chern SR， Wu PS， Chen YN， Chen SW， Lee CC， Town DD， Chen WL， Wang W. Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 2. TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY. 2017-04. 56(2):234-7. (Case Report， SCI)
11 Wu WJ， Ma GC， Lee MH， Chen YC， Chen M. The use of low molecular weight heparin reduced the fetal fraction and rendered the cell-free DNA testing for trisomy 21 false negative. ULTRASOUND IN OBSTETRICS & GYNECOLOGY. 2017-03. doi: 10.1002/uog.17473 (in press) (Letter to the Editor， SCI， IF=4.71， Obstetrics & Gynecology: 6/80; Acoustics: 1/32; Radiology， Nuclear Medicine & Medical Imaging: 11/126)
12 Lin PH， Li HY， Fan SC， Yuan TH， Chen M， Hsu YH， Yang YH， Li LY， Yeh SP， Bai LY， Liao Y， Lin CY， Hsieh CY， Lin CC， Lin CH， Lien MY， Chen TT， Ni YH， Chiu CF. A targeted next-generation sequencing in the molecular risk stratification of adult acute myeloid leukemia: implications for clinical practice. CANCER MEDICINE. 2017-01. doi: 10.1002/cam4.969. (Original Research， SCI， IF= 3.362， Onology: 90/217)
13 Wu WJ， Ma GC， Lin YS， Yeang CH， Ni YH， Li WC， Tsai HD， Gau SS， Chen M*. Detection of 22q11.2 microduplication by cell-free DNA screening and chromosomal microarray in fetus with multiple anomalies. ULTRASOUND IN OBSTETRICS & GYNECOLOGY. 2016-10. 48(4):530-532. (Letter to the Editor， SCI， IF=4.71， Obstetrics & Gynecology: 6/80; Acoustics: 1/32; Radiology， Nuclear Medicine & Medical Imaging: 11/126)
14 Shen MC， Chen M， Ma GC， Chang SP， Lin CY， Lin BD， Hsieh HN. De novo mutation and somatic mosaicism of gene mutation in type 2A， 2B and 2M VWD. THROMBOSIS JOURNAL. 2016-10. 14(Suppl 1):36. (Research， Peer reviewed article)
15 Chen M， Chang SP， Ma GC， Lin WH， Chen HF， Chen SU， Tsai HD， Tsai FP， Shen MC. Preimplantation genetic diagnosis of hemophilia A. THROMBOSIS JOURNAL. 2016-10. 14(Suppl 1): 33. (Review， Peer reviewed article)
16 Shen MC， Wu WJ， Cheng PJ， Ma GC， Li WC， Liou JD， Chang CS， Lin WH， Chen M. Low-molecular-weight-heparin can benefit women with recurrent pregnancy loss and sole protein S deficiency: a historical control cohort study from Taiwan. THROMBOSIS JOURNAL. 2016-10. 28;14:44. (Research， Peer reviewed article)
17 Huang KY， Kuo KT， Li YP， Chen M， Yu CU， Shih JC. Urorectal septum malformation sequence-Fetal series with the description of a new "intermediate" variant. Time to refine the terminology? AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2016-09. 170(9):2479-82. (Research Letter， SCI， IF=2.259， Genetics & Heredity: 99/166)
18 Cheng HH#， Ma GC#， Tsai CC#， Wu WJ， Lan KC， Hsu TY， Yang CW， Chen M*. Confined placental mosaicism of double trisomies 9 and 21: discrepancy among noninvasive prenatal testing， chorionic villus sampling， and postnatal confirmation. ULTRASOUND IN OBSTETRICS & GYNECOLOGY. 2016-08. 48(2):251-3. (Letter to the Editor， SCI， IF=4.71， Obstetrics & Gynecology: 6/80; Acoustics: 1/32; Radiology， Nuclear Medicine & Medical Imaging: 11/126)
19 Ma GC， Chen HF， Yang YS， Lin WH， Tsai FP， Lin CF， Chiu C， Chen M*. A pilot proof-of-principle study to compare fresh and vitrified cycle preimplantation genetic screening by chromosome microarray and next generation sequencing. MOLECULAR CYTOGENETICS. 2016-03. 21;9:25. (Research， SCI， IF=1.455， Genetics & Heredity: 131/166)
20 Yang YS#， Chang SP#， Chen HF#， Ma GC#， Lin WH， Lin CF， Tsai FP， Wu CH， Tsai HD， Lee TH ，Chen M*. Preimplantation genetic screening of blastocysts by multiplex qPCR followed by fresh embryo transfer: validation and verification. MOLECULAR CYTOGENETICS. 2015-07. 8:49. (Research， SCI， IF=1.455， Genetics & Heredity: 131/166)
21 Leung KY， Poon CF， Teotico AR， Hata T， Won HS， Chen M， Chittacharoen A， Malhotra J， Shah PK， Salim A; Ultrasound Committee， Asia and Oceania Federation of Obstetrics & Gynaecology. Recommendations on routine mid-trimester anomaly scan. JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH. 2015-05. 41(5):653-61. (AOFOG Committee Report， SCI)
22 Wu WJ#， Ma GC#， Wu PC， Huang KS， Liu YL， Chang SP， Ginsberg NA， Chen M*. 2015. Lessons learned from two missed prenatal cases of hemoglobin Bart’s hydrops fetalis until second trimester despite a nationwide screening program. Hereditary Genet S7: 003. (Peer reviewed article)
23 Tsai MC， Cheng HY， Su MT， Chen M， Kuo PL. Partial trisomy 8 mosaicism not detected by cultured amniotic-fluid cells. TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY. 2014-12. 53(4):598-601. (Case Report， SCI)
24 Chen HF， Chang SP， Wu SH， Lin WH， Lee YC， Ni YH， Chen CA， Ma GC， Ginsberg NA， You EM， Tsai FP， Chen M*. Validating a rapid， real-time， PCR-based direct mutation detection assay for preimplantation genetic diagnosis. GENE. 2014-09. 5;548(2):299-305. (Methods Paper， SCI ， IF=2.415， Genetics & Heredity: 89/166)
25 Yeang CH， Ma GC， Hsu HW， Lin YS， Chang SM， Cheng PJ， Chen CA， Ni YH， Chen M*. Genome-wide normalized score: a novel counting algorithm to detect fetal trisomy 21 in non-invasive prenatal testing. ULTRASOUND IN OBSTETRICS & GYNECOLOGY. 2014-07. 44(1):25-30. (Original Paper， SCI ， IF=4.71， Obstetrics & Gynecology: 6/80; Acoustics: 1/32; Radiology， Nuclear Medicine & Medical Imaging: 11/126)
26 Chen M#， Yang YS#， Shih JC， Lin WH， Lee DJ， Lin YS， Chou CH， Cameron AD， Ginsberg NA， Chen CA， Lee ML， Ma GC. Microdeletions/duplications involving TBX1 gene in fetuses with conotruncal heart defects which are negative for 22q11.2 deletion on fluorescence in-situ hybridization. ULTRASOUND IN OBSTETRICS & GYNECOLOGY. 2014-04. 43(4):396-403. (Original Paper， SCI ， IF=4.71， Obstetrics & Gynecology: 6/80; Acoustics: 1/32; Radiology， Nuclear Medicine & Medical Imaging: 11/126)
27 Jhang KM， Chang TM， Chen M， Liu CS. Generalized epilepsy in a patient with mosaic Turner syndrome: a case report. JOURNAL OF MEDICAL CASE REPORTS. 2014-04. 2;8:109. (Case Report， Peer reviewed article)
28 Chen CP， Chen M， Su YN， Chern SR， Wu PS， Chang SP， Kuo YL， Chen WL， Wang W. Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 15. TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY. 2014-03. 53(1):129-32. (Research Letter， SCI)
29 Shaw SW， Hsiao CH， Chen CY， Ren Y， Tian F， Tsai C， Chen M， Cheng PJ. Noninvasive prenatal testing for whole fetal chromosomal aneuploidies: a multicenter prospective cohort trial in Taiwan. FETAL DIAGNOSIS AND THERAPY. 2014-02. 35(1):13-7. (Original Paper， SCI ， IF=2.323， Obstetrics & Gynecology= 23/80)
30 Hsu HK， Su MT， Chen M， Yen P， Kuo PL. Two Y chromosomes with duplication of the distal long arm including the entire AZFc region. GENE. 2014-02. 25;536(2):444-8. (Short Communication， SCI ， IF=2.415， Genetics & Heredity: 89/166)
31 Chen CP， Chen M， Chen CY， Chern SR， Wu PS， Chang SP， Kuo YL， Chen WL， Pan CW， Wang W. Prenatal diagnosis and molecular cytogenetic characterization of de novo pure partial trisomy 6p associated with microcephaly， craniosynostosis and abnormal maternal serum biochemistry. GENE. 2014-02. 25;536(2):425-9. (Short Communication， SCI ， IF=2.415， Genetics & Heredity: 89/166)
32 Kuan LC， Su MT， Chen M， Kuo PL， Kuo TC. A non-mosaic isodicentric Y chromosome resulting from breakage and fusion at the Yq pseudo-autosomal region in a fetus. JOURNAL OF ASSISTED REPRODUCTION AND GENETICS. 2013-12. 30(12):1559-62. (Genetics， SCI ， IF=2.163， Obstetrics & Gynecology: 38/80; Genetics & heredity: 106/166)
33 Shaw SSW， Hsiao CH， Chen CY， Ren Y， Tian F， Tsai C， Chen M， Cheng PJ. Noninvasive Prenatal Testing for Whole Fetal Chromosomal Aneuploidies: A Multicenter Prospective Cohort Trial in Taiwan. FETAL DIAGNOSIS & THERAPY. 2013-11. 35(1):13-7. (Original Paper， SCI ， IF=2.699， Obstetrics & Gynecology: 23/80)
34 Lin LK， Ma GC， Chen TH， Lin WH， Lee DJ， Wen PY， Wu SH， Chen M*. Genomic analyses of the Formosan harvest mouse (Micromys minutus) and comparisons to the brown Norway rat (Rattus norvegicus) and the house mouse (Mus musculus). ZOOLOGY. 2013-10. 116(5):307-15. (Original Paper， SCI ， IF=1.51， Zoology: 46/162)
Chen CP， Chen M， Su YN， Huang JP， Chern SR， Wu PS， Su JW， Chang SP， Chen YT， Lee CC， Chen LF， Pan CW， Wang W. Mosaic small supernumerary marker chromosome 1 at amniocentesis: Prenatal diagnosis， molecular genetic analysis and literature review. GENE. 2013-10. 529(1):169-75. (Short Communication， SCI ， IF=2.415， Genetics & Heredity: 89/166)
35 Kuan LC， Su MT， Chen M， Kuo PL， Kuo TC. A dicentric Y chromosome resulting from pericentric inversion between the centromere and Yq heterochromatin. TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY. 2013-09. 52(3):443-5. (Research Letter， SCI)
36 Lin CJ， Wang SC， Ku CL， Kao JK， Chen M， Liu CS. Successful Unrelated Cord Blood Stem Cell Transplantation in an X-linked Chronic Granulomatous Disease Patient with Disseminated BCG-induced Infection. PEDIATRICS AND NEONATOLOGY. 2013-03. S1875-9572(13)00070-3. (Case report， SCI ， IF=1.287， Pediatrics: 78/121)
37 Chen CP， Chen M， Ma GC， Su YN， Ko TM， Lin YH， Wang W. Array comparative genomic hybridization characterization of prenatally detected de novo apparently balanced reciprocal translocations with or without genomic imbalance in other chromosomes. JOURNAL OF THE CHINESE MEDICAL ASSOCIATION. 2013-01. 76(1):53-6. (Case report， SCI ， IF=1.252， Medicine， General & Internal: 82/154)
38 Su SL， Wang WF， Wu SL， Wu HM， Chang JC， Huang CS， Cheng WL， Soong BW， Lee YC， Li JY， Kuo SJ， Chen M， Huang CN， Liu CS. FGF21 in ataxia patients with spinocerebellar atrophy and mitochondrial disease. CLINICA CHIMICA ACTA. 2012-09. 414:225–227. (Original Research， SCI ， IF= 2.873， Medical Laboratory Technology: 8/30)
39 Chen CP， Chen M， Su YN， Huang JP， Ma GC， Chang SP， Chern SR， Chen YT， Su JW， Lee CC， Town DD， Wang W. Inv dup del(10q): Identification by fluorescence in situ hybridization and array comparative genomic hybridization in a fetus with two concurrent chromosomal rearrangements. TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY. 2012-06. 51(2): 245-252. (Short Communication， SCI)
40 Chen CP， Chang SD， Su YN， Chen M， Chern SR， Su JW， Chen YT， Chen WL， Pan CW， Lee MS， Wang W. Rapid positive confirmation of mosaicism for a small supernumerary marker chromosome as r(8) by interphase fluorescence in situ hybridization， quantitative fluorescent polymerase chain reaction， and array comparative genomic hybridization on uncultured amniocytes in a pregnancy with fetal pyelectasis. TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY. 2012-06. 51(3):405-410. (Short Communication， SCI)
41 Yu HT#， Ma GC#， Lee DJ， Chin SC， Chen TL， Tsao HS， Lin WH， Wu SH， Lin CC， Chen M*. Use of a cytogenetic whole-genome comparison to resolve phylogenetic relationship among three species: implications for mammalian systematics and conservation biology. THERIOGENOLOGY. 2012-05. 77(8): 1615-1623. (Research Article， SCI ， IF= 1.986， Veterinary Science: 15/136; Reproductive Biology: 20/29)
42 Yeang CH#， Ma GC#， Shih JC， Yang YS， Chen CP， Chang SP， Wu SH， Liu CS， Kuo SJ， Chou HC， Hwu WL， Cameron AD， Ginsberg NA， Lin YS， Chen M*. Genome-wide gene expression analysis implicates the immune response and lymphangiogenesis in the pathogenesis of fetal chylothorax. PLoS ONE. 2012-03. 7(4): e34901. (Research Article， SCI ， IF= 2.806， Multidisciplinary Sciences: 15/64)
43 Chen CP， Su YN， Chen M， Tsai FJ， Chen YY， Ma GC， Chang SP， Su JW， Chen YT， Chen WL， Chen LF， Wang W. Unexplained shortening of the long bones in the third trimester as the only prenatal feature in a male fetus with 45，X/46，X，r(Y) mosaicism. TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY. 2012-03. 51(1): 134-138. (Research Letter， SCI)
44 Yang YS#， Ma GC#， Shih JC， Chen CP， Chou CH， Yeh KT， Kuo SJ， Chen TH， Hwu WL， Lee TH， Chen M*. Experimental treatment of bilateral fetal chylothorax using in utero pleurodesis. ULTRASOUND IN OBSTETRICS & GYNECOLOGY. 2012-01. 39(1):56-62. (Original Paper， SCI ， IF=4.71， Obstetrics & Gynecology: 6/80; Acoustics: 1/32; Radiology， Nuclear Medicine & Medical Imaging: 11/126)
45 Kuo SJ#， Ma GC#， Chang SP#， Wu HH， Chen CP， Chang TM， Lin WH， Wu SH， Lee MH， Hwu WL， Chen M*. Preimplantation and prenatal genetic diagnosis of aromatic L-amino acid decarboxylase deficiency with an amplification refractory mutation system-quantitative polymerase chain reaction. TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY. 2011-12. 50(4): 468-73. (Original Article， SCI)
46 Chen CP#*， Huang HK#， Ling PY， Su YN， Chen M， Tsai FJ， Wu PC， Chern SR， Chen YT， Lee CC， Wang W. A de novo duplication of chromosome 21q22.11/qter associated with Down syndrome: Prenatal diagnosis， molecular cytogenetic characterization and fetal ultrasound findings. TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY. 2011-12. 50(4): 492-98. (Short Communication， SCI)
47 Chen CP*， Su YN， Chen M， Huang JP， Tsai FJ， Wu PC， Chen WL， Wang W. Prenatal diagnosis and molecular cytogenetic characterization of a mosaic derivative Y chromosome derived from a de novo unbalanced reciprocal Yq;13q translocation. TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY. 2011-9. 50(3): 394-8. (Research Letter， SCI)
48 Chen CP#*， Chen M#， Pan YJ， Su YN， Chern SR， Tsai FJ， Chen YT， Wang W. Prenatal diagnosis of mosaic trisomy 8: Clinical report and literature review. TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY. 2011-9. 50(3): 331-8. (Short Communication， SCI)
49 Kuan LC， Su MT， Wu CM， Chen M， Kuo PL， Kuo TC*. A family with Xq22.3q25 interstitial deletion and normal ovarian function. FERTILITY AND STERILITY. 2011-7. 96(1):e29-34. (Original Article， SCI， IF=4.373， Obstetrics & Gynecology: 8/80; Reproductive Biology: 3/29)
50 Chen CP*， Lin SP， Chen M， Su YN， Chern SR， Wang TY， Liu YP， Tsai FJ， Lee CC， Chen YJ， Wang W. Mosaic supernumerary r(1)(p13.2q23.3) in a 10-year-old girl with epilepsy facial asymmetry psychomotor retardation kyphoscoliosis dermatofibrosarcoma and multiple exostoses. GENETIC COUNSELING. 2011-7. 22(3): 273-80. (Case report， SCI)
51 Yu HT#， Ma GC#， Lee DJ#， Chin SC， Tsao HS， Wu SH， Shin SY， Chen M*. Molecular delineation of the Y-borne Sry gene in the Formosan pangolin (Manis pentadactyla) and its phylogenetic implications for Pholidota in extant mammals. THERIOGENOLOGY. 2011-6. 75(1): 55-64. (Research Article， SCI， IF= 1.986). Veterinary Science: 15/136; Reproductive Biology: 20/29)
52 Chen CP*， Chen M， Ma GC， Chang SP， Chen YY， Wu PC， Chen LF， Wang W. Prenatal diagnosis and molecular cytogenetic characterization of a small marker chromosome derived from Y chromosome. TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY. 2011-6. 50(2): 253-7. (Case Report， SCI)
53 Chen CP*， Chen M， Su YN， Tsai FJ， Chern SR， Wu PC， Chen WL， Chen LF， Pan CW， Wang W. Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 4. TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY. 2011-6. 50(2): 188-95. (Short Communication， SCI)
54 Lee IW， Chou YY， Hsu KF， Chou PY， Chen M， Kuo PL， Lin SJ*. Complex Chromosome Rearrangement 46，XY，der(9)t(Y;9)(q12;p23) in a Girl With Sex Reversal and Mental Retardation. UROLOGY. 2011-5. 77(5): 1213-6. (Pediatric Case Report， SCI ， IF= 2.309， Urology & Nephrology: 30/76)
55 Huang SW， Lin YY， You EM， Liu TT， Shu HY， Wu KM， Tsai SF， Lo CF， Kou GH， Ma GC， Chen M， Wu D， Aoki T， Hirono I ，Yu HT. Fosmid library end sequencing reveals a rarely known genome structure of marine shrimp Penaeus monodon. BMC GENOMICS. 2011-5. 12: 242. (Research Article， SCI ， IF= 3.729， Biotechology & Applied Microbiology: 33/158; Genetics & Heredity: 50/166)
56 Ma GC， Ke YY， Chang SP， Lee DJ， Chen YC， Chen M*. A compound heterozygous GNPTAB mutation causes mucolipidosis II with marked hair color change in a Han Chinese baby. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2011-3. 155(4): 931-4. (Research Letter， SCI ， IF=2.259， Genetics & Heredity: 99/166)
57 Lee ML， Chen M， Tsao LY， Chiu HY， Chiu IS， Yang AD， Tsai PL. Congenital stridor and wheezing as harbingers of the del22q11.2 syndrome presenting cardiovascular malformations of right aortic arch， aberrant left subclavian artery， Kommerell's diverticulum， and left ligamentum arteriosum. CARDIOVASCULAR PATHOLOGY. 2011-3. 20(2): 124-9. (Case Report， SCI ， IF= 2.359， Cardiac & Cardiovascular Systems: 62/126; Pathology: 30/79)
58 Chen ZH， Chen M， Tsai HD， Wu CH* Intrapartum uterine rupture associated with a scarred cervix because of a previous rupture of cystic cervical endometriosis. TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY. 2011-3. 50(1): 95-7. (Research Letter， SCI)
59 Chen CP， Chen M， Ko TM， Ma GC， Tsai FJ， Tsai MS， Wu PC， Lee CC， Chen LF， Wang W. Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 8. TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY. 2010-12. 49(4): 500-5. (Case Report， SCI)
60 Lee NC， Chen M， Ma GC， Lee DJ， Wand TJ， Ke YY， Chien YH， Hwu WL. Complex rearrangements between chromosomes 6， 10 and 11 with multiple deletions at breakpoints. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2010-9. 152A(9): 2327-34. (Clinical Report， SCI， IF=2.259， Genetics & Heredity: 99/166)
61 Kuo SJ#， Chen M#， Ma GC#， Chen ST， Chang SP， Lin W-Y， Chen YC， Lee TH， Lin TT， Liu CS. Number of somatic mutations in the mitochondrial D-loop region indicates poor prognosis in breast cancer， independent of TP53 mutation. CANCER GENETICS AND CYTOGENETICS (CANCER GENETICS). 2010-9. 201(2): 94-101. (Original Article， SCI ， IF= 1.930， Onology: 161/217; Genetics & Heredity: 108/166)
62 Chen CP， Chen M， Su YN， Tsai FJ， Chern SR， Hsu CY， Wu PC， Town DD， Lee DJ， Ma GC， Wang W. Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 7p (7p15.3→pter) and partial monosomy 13q (13q33.3→qter) associated with dandy-walker malformation， abnormal skull develipment and microcephaly. TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY. 2010-9. 49(3): 320-6. (Short Communication， SCI)
63 You EM， Liu KF， Huang SW， Chen M， Groumellec ML， Fann SJ， Yu HT. Construction of integrated genetic linkage maps of the tiger shrimp (Penaeus monodon) using microsatellite and AFLP markers. ANIMAL GENETICS. 2010-8. 41(4): 365-76. (Original Article， SCI ， IF= 1.815. Agriculture， Dairy & Animal Science: 3/55; Genetics & Heredity: 90/158)
64 Lee ML*， Chen M， Yang AD， Chiu IS. Mirror-image type D interrupted aortic arch: A novel cardiac phenotype providing some perspective in the del22q11.2 syndrome. INTERNATIONAL JOURNAL OF CARDIOLOGY. 2010-6. 141(3): e47-50. (Letter to the Editor， SCI ， IF= 6.189， Cardiac & Cardiovascular Systems: 16/126)
65 Wu CC， Liu MT， Chang YT， Fang CY， Chou SP， Liao HW， Kuo KL， Hsu SL， Chen YR， Wang PW， Chen YL， Chuang HY， Lee CH， Chen M， Wayne Chang WS， Chen JY. Epstein-Barr Virus DNase (BGLF5) induces genomic instability in human epithelial cells. NUCLEIC ACIDS RESEARCH. 2010-4. 38(6): 1932-49. (Original Article， SCI ， IF= 10.162). Biochemistry & Molocular Biology: 14/286)
66 Chen M， Ke YY， Chang SP， Lee DJ， Chen CH， Ma GC*. Prenatal transient alveolomaxillary defect in a case of Mucolipidosis II (I-cell disease). ULTRASOUND IN OBSTETRICS & GYNECOLOGY. 2010-3. 36(2): 255-8. (Letter to the Editor， SCI ， IF=4.71， Obstetrics & Gynecology: 6/80; Acoustics: 1/32; Radiology， Nuclear Medicine & Medical Imaging: 11/126)
67 Ma GC， Ke YY， Lee ML， Tsao LY， Lee DJ， Yang CW， Kuo SJ， Chiu HY， Chen M*. De novo triple segmental aneuploid of 1p， 1q and 4q in a girl with hypertrophic cardiomyopathy， muscle hypotonia and multiple congenital anomalies. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2010-3. 152A(3): 784-8. (Research Letter， SCI， IF=2.259， Genetics & Heredity: 99/166)
68 Chen CH#， Chen TH#， Kuo SJ， Chen CD， Yang YS， Chen M*. Late Termination of Pregnancy: Experience From an East Asian Population and Report of a Novel Technique for Feticide. JOURNAL OF MEDICAL ULTRASOUND. 2009-12. 17(4):193-9. (Original Article， Peer reviewed article)
69 Lee NC， Chang SP， Chang CS， Chen CH， Lee DJ， Lin CC， Hwu WL， Chen M*. Cryptic subtelomeric deletion plus inverted duplication at chromosome 18q in a fetus: molecular delineation by multicolor banding. PRENATAL DIAGNOSIS. 2009-11. 29(11): 1058-60. (Research Letter， SCI ， IF=2.523， Genetics & Heredity: 82/166; Obstetrics & Gynecology: 25/80)
70 Chen CH， Chen TH， Kuo SJ， Chen CP， Lee DJ， Ke YY， Yeh KT， Ma GC， Liu CS， Shih JC， Chen M*. Genetic evaluation and management of fetal chylothorax: review and insights from a case of Noonan syndrome. LYMPHOLOGY. 2009-9. 42(3): 134-8. (Case Report ， SCI ， IF=1.079， Immunology: 139/150; Physiology: 75/84)
71 Chen M， Kuo HH， Huang YC， Ke YY， Chang SP， Chen CP， Lee DJ， Lee ML， Lee MH， Chen TH， Chen CH， LinHM， Liu CS， Ma GC*. A case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in the ZMPSTE24 gene. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2009-7. 149A(7): 1550-4. (Research Letter， SCI， IF=2.259， Genetics & Heredity: 99/166)
72 Chen LY， Chen TH， Wen PY， Ying TH， Chang SP， Chen M*. Differential expression of NUDT9 at different phases of menstrual cycle and different components of normal and neoplastic human endometrium. TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY. 2009-6. 48(2): 98-107. (Original Article， SCI)
73 Chen TH， Chen CH， Hong YC， Chen M*. Puerperal pelvic hematoma successfully treated by primary transcatheteral arterial embolization. TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY. 2009-6. 48(2): 200-2. (Research Letter， SCI)
74 Chen CH， Hsieh HC， Ysai HD， Chen TH， Chen M*. Cardiac tamponade-a new alternative procedure for late feticide: a case report and literature review. TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY. 2009-6. 48(2): 159-62. (Short Communication， SCI)
75 Ho WK， Wang YF， Wu HH， Tsai HD， Chen TH， Chen M*. Ruptured corpus luteum with hemoperitoneum: case characteristics and demographic changes over time. TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY. 2009-6. 48(2): 108-12. (Original Article， SCI)
76 Chen LY， Chen TH， Wen PY， Ying TH， Chang SP， Chen M*. Differential expression of NUDT9 at different phases of menstrual cycle and different components of normal and neoplastic human endometrium. TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY. 2009-6. 48(2): 98-107. (Original Article， SCI)
77 Lee ML， Tsao LY， Chiu HY， Chen M， Chiu IS. Outcomes in Neonates with Pulmonary Atresia and Intact Ventricular Septum Underwent Pulmonary Valvulotomy and Valvuloplasty Using a Flexible 2-French Radiofrequency Catheter. YONSEI MEDICAL JOURNAL. 2009-4. 50(2): 245-51. (Original Article， SCI， IF=1.287， Medicine， General & Internal: 70/154)
78 Lee ML*， Chen M. Diagnosis and Management of Congenital Coronary Arteriovenous Fistula in Pediatric Patients Presenting Congestive Heart Failure and Myocardial Ischemia. YONSEI MEDICAL JOURNAL. 2009-2. 50(1): 95-104. SCI ， IF=1.537). (Original Article， SCI， IF=1.287， Medicine， General & Internal: 70/154)
79 Ho WK， Wang YF， Wu HH， Tsai HD， Chen TH， Chen M*. Ruptured corpus luteum with hemoperitoneum: case characteristics and demographic changes over time. TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY. 2009. 48(2): 108-112. (Original Article， SCI)
80 Ma GC#， Liu CS，#， Chang SP， Yeh KT， Ke YY， Chen TH， Wang BBT， Kuo SJ， Shih JC， Chen M*. A recurrent ITGA9 missense mutation in human fetuses with severe chylothorax: possible correlation with poor response to fetal therapy. PRENATAL DIAGNOSIS. 2008. 28(11):1057-1063. (Original Paper， SCI ， IF=2.523， Genetics & Heredity: 82/166; Obstetrics & Gynecology: 25/80)
81 Ma GC#， Chang SP#， Chen M*， Kuo SJ， Chang CS， Shen MC*.The spectrum of the factor8 (F8) defects in Taiwanese patients with hemophilia A. HAEMOPHILIA. 2008. 14: 787-795. (Original Article， SCI ， IF=3.569， Hematology: 22/70)
82 Ma GC， Chang SD， Chang Y， Chang SP， Yang CW， Lee MJ， Lee TH， Chen M*. Rapid prenatal confirmation of LIT1 hypomethylation using a novel quantitative method (E-Q-PCR) in Beckwith-Wiedemann syndrome fetuses impressed with ultrasonography. FERTILITY AND STERILITY. 2008. 90: 1279-1282. (Correspondence， SCI ， IF=4.373， Obstetrics & Gynecology: 8/80; Reproductive Biology: 3/29)
83 Huang CC， Chen TH， Ho SY， Chen M*. Antenatally ultrasound-impressed placenta percreta complicatedwith massive hemorrhage despite a combinational arterial embolization and two-stage surgery. JOURNAL OF MEDICAL ULTRASOUND. 2008. 16: 296-300. (Case Report， Peer reviewed article)
84 Chen M#， Hsieh CY#， Shih JC， Chou CH， Ma GC， Chen TH， Lee TH， Tsai HD， Cameron AD， Chen CP*. Proinflammatory MIF and IL-6 are concentrated in pleural effusion of human fetuses with antenatal chylothorax. PRENATAL DIAGNOSIS. 2007. 27: 435-441. (Original Paper， SCI， IF=2.523， Genetics & Heredity: 82/166; Obstetrics & Gynecology: 25/80)
85 Lee ML*， Chen M， Lee MH. Balloon pulmonary valvuloplasty for valvular pulmonary stenosis in double outlet right ventricle incriminating 46，X，der(X)t(X;3)(q28;q13.2)mat in an infant. INTERNATIONAL JOURNAL OF CARDIOLOGY. 2007. 114:e27-30. (Letter to the Editor， SCI， IF= 6.189， Cardiac & Cardiovascular Systems: 16/126)
86 Ke YY#， Lee DJ#， Ma GC， Wang BT， Chen M*. Interstitial deletion of 13q31 associated with a normal phenotype: insight from studying a reciprocal translocation segregated in a family. JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION. 2007. 106: 582-588. (Case Report， SCI， IF=1.969， Medicine， General & Internal: 46/154)
87 Wu HH， Lee TH， Chen CD， Yu HT， Yeh KT， Chen M* Delineation of an Isodicentric Y Chromosome in a Mosaic 45，/46，Xidic(Y)(Qter-p11.3::P11.3-Qter) Fetus by SRY Sequencing， G-banding， FISH， SKY and Study of Distribution in Different Tissues. JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION. 2007. 106: 402-409. (Case Report， SCI ， IF=1.969， Medicine， General & Internal: 46/154)
88 Yang CS， Jan YJ， Wang J， Shen CC， Chen CC*， Chen M. Spinal atypical teratoid/rhabdoid tumor in a 7-year-old boy. NEUROPATHOLOGY. 2007. 27: 139-44. (Case Report， SCI ， IF=1.784， Clinical Neurology: 135/194; Neurosciences: 201/258; Pathology: 44/79)
89 Wu SH#， Chen M#， Chin SC， Lee DJ， Wen PY， Lee LY， Wang BT， Yu HT*. Cytogenetic analysis of Formosan pangolin， Manis pentadactyla pentadactyla (Pholidota: Mammalia). ZOOLOGICAL STUDIES. 2007. 46: 389-396. (Original Article， SCI)
90 Lee ML*， Chen M. Tibial Agenesis-Ectrodactyly Syndrome Associated with Novel Cardiovascular and Bronchopulmonary Malformations. CLINICAL DYSMORPHOLOGY. 2007. 16: 47-49. (Original Article， SCI)
91 Kuo SJ， Wang BT， Chang CS， Chen TH， Yeh KT， Lee DJ， Yin PL， Chen M*. Comparison of immunohistochemical and fluorescence in situ hybridization assessment for HER-2/neu status in Taiwanese breast cancer patients. TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY. 2007. 46: 146-151. (Original Article， SCI)
92 Wong LJ， Lee MH， Chen M， Tsao LY， Ozgul A， Wang BT*. The first prenatal exclusion of CF case in an East Asian population. PEDIATRICS INTERNATIONAL. 2007. 49: 686-687. (Patient Report， SCI)
93 Chen M， Hwu WL， Kuo SJ， Yin PL， Chang SP， Lee DJ， Chen TH， Wang BT， Lin CC*. Subtelomeric rearrangements and 22q11.2 deletion syndrome in anomalous growth-restricted fetuses with normal or balanced G-banded karyotype. ULTRASOUND IN OBSTETRICS & GYNECOLOGY. 2006: 28: 939-943. (Original Paper， SCI， IF=4.71， Obstetrics & Gynecology: 6/80; Acoustics: 1/32; Radiology， Nuclear Medicine & Medical Imaging: 11/126)
94 Chen M*， Kuo SJ， Liu CS， Chen WL， Ko TM， Chang SP， Chang YY， Huang CH， Chen TH， Wang BT. A novel heterozygous missense mutation 377T>C (V126A) in TGIF gene in a family segregated with holoprosencephaly and moyamoya disease. PRENATAL DIAGNOSIS. 2006: 26: 226-230. (Original Paper， SCI ， IF=2.523). Genetics & Heredity: 82/166; Obstetrics & Gynecology: 25/80.
95 Chen M*， Chang SP， Yin PL， Sapeta M， Barringer S， Kuo SJ， Yu HT， Wang BB. Prenatal identification of multiple small supernumerary marker chromosomes in an infant born with mild congenital anomalies. PRENATAL DIAGNOSIS. 2006: 26: 383-387. (Letter to the Editor， SCI ， IF=2.523， Genetics & Heredity: 82/166; Obstetrics & Gynecology: 25/80)
96 Lee ML*， Chen HN， Chen M， Tsao LY， Wang BT， Lee MH， Chiu IS. Persistent fifth aortic arch associated with 22q11.2 deletion syndrome. JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION. 2006. 105: 284-289. (Original Article， SCI， IF=1.969， Medicine， General & Internal: 46/154)
97 Chen CP*， Lin SP， Wang TH， Chen YJ， Chen M， Wang W. Perinatal findings and molecular cytogenetic analyses of de novo interstitial deletion of 9q (9q22.3 q31.3) associated with Gorlin syndrome. PRENATAL DIAGNOSIS. 2006: 26: 725-729. (Case Report， SCI ， IF=2.523， Genetics & Heredity: 82/166; Obstetrics & Gynecology: 25/80)
98 Chen M*， Ho WK， Hsieh TC， Lee CH， Hsiao CC， Chang SP， Lee DJ， Yang AD. Huge duplication cyst of small intestine: ultrasonographic features and antenatal aspiration. PRENATAL DIAGNOSIS. 2006: 26: 86-89. (Letter to the Editor， SCI ， IF=2.523， Genetics & Heredity: 82/166; Obstetrics & Gynecology: 25/80)
99 Chen M*， Shih JC， Wang BT， Chen CP， Yu CL. Fetal OK-432 pleurodesis: complete or incomplete? ULTRASOUND IN OBSTETRICS & GYNECOLOGY. 2005. 26: 791-793. (Letter to the Editor， SCI， IF=4.71， Obstetrics & Gynecology: 6/80; Acoustics: 1/32; Radiology， Nuclear Medicine & Medical Imaging: 11/126)
100 Chen M*， Hsieh CY， Cameron AD， Shih JC， Lee CN， Ho HN， Chen TH. ， Chen CP. Management of oligohydramnios with amnioinfusion，amniopatch，and cerclage. TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY. 2005. 44:347-352. (Original Article， SCI)
101 Chen FY*， Chen M， Shih JC， Tsao PN， Lee CN， Hsieh FJ. Meconium peritonitis presenting as a massive fetal ascites. PRENATAL DIAGNOSIS. 2004. 24(11): 930-931. (Letter to the Editor ， SCI ， IF=2.523， Genetics & Heredity: 82/166; Obstetrics & Gynecology: 25/80)
102 Hsieh LJ， Hsieh TC， Yeh GP， Lin MI， Chen M*， Wang BT. Prenatal diagnosis of a fetus affected with Down syndrome and deletion 1p36 syndrome by FISH and spectral karyotyping. FETAL DIAGNOSIS AND THERAPY. 2004. 19(4): 356-360. (Case Report， SCI ， IF=2.939， Obstetrics & Gynecology: 23/80)
103 Chang TC， Lien YR， Chen M， Cheng SP， Chen RJ， Chow SN*. Effect of conjugated equine estrogen in combination with two different progestogens on the risk factors of coronary heart disease in postmenopausal Chinese women in Taiwan: a randomized one-year study. ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA. 2004. 83(7): 661-666. (Original Article， SCI ， IF=2.480， Obstetrics & Gynecology: 27/80)
104 Chen M， Yeh GP， Shih JC， Wang BT*. Trisomy 13 Mosaicism: study of serial cytogenetic changes in a case from early pregnancy to infancy. PRENATAL DIAGNOSIS. 2004. 24(2): 137-143. (Short Communication， SCI ， IF=2.523， Genetics & Heredity: 82/166; Obstetrics & Gynecology: 25/80)
105 Chen M*， Chen CP. Invasive fetal therapy: its global status and local development. TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY. 2004. 20(4): 309-315. (Research Article， SCI)
106 Wu JL， Chen M*， Hsieh TC， Chen TH， Chou PH， Lin KC. Early-onset oligohydramnios complicated with hypertension， hyperthyroidism， and a coexisting elevated urine vanillylmandelic acid of unknown origin mimicking a pheochromocytoma. TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY. 2004. 43(4): 222-225. (Short Communication， SCI)
107 Wang BT， Chen M*. Redundant skin over the nape in a girl having monosomy 1p36 caused by a de novo satellited derivative chromosome-A possible new feature? CLINICAL DYSMORPHOLOGY. 2004. 13(2): 107-109. (Letter to the Editor， SCI)
108 Chen M*， Shih JC， Wang BT. Trisomy 13 manifested as hypoplastic left heart and other structural abnormalities. PRENATAL DIAGNOSIS. 2003. 23(13): 1102-1103. (Letter to the Editor， SCI ， IF=2.523， Genetics & Heredity: 82/166; Obstetrics & Gynecology: 25/80)
109 Chen CA， Chen M*. Simultaneous occurrence of hepatic focal nodular hyperplasia and uterine endometrial stromal nodule in a patient having treated breast infiltrating ductal carcinoma. ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA. 2003. 82(6): 585-586. (Case Report， SCI ， IF=2.480， Obstetrics & Gynecology: 27/80)
110 Chang TC， Chen M， Lien YR， Chen RJ， Chow SN*. Comparison of the difference in histopathology and cell cycle kinetics among the postmenopausal endometrium treated with different progestins in sequential-combined hormone replacement therapy. MENOPAUSE. 2003. 10(2): 172-178. (Original Article， SCI ， IF=2.733， Obstetrics & Gynecology: 21/80)
111 Chow SN， Chen M， Chen PJ， Chen RJ， Chien CH. Cell cycle analysis and detection of proliferative cell nuclear antigen of the endometrium after hormone replacement therapy. MATURITAS. 2001. 39: 227-237. (Original Article， SCI ， IF=3.255， Obstetrics & Gynecology: 11/80; Geriatrics & Gerontology: 13/49)
112 Chen M， Chow SN. Additive effect of alfacalcidol on bone mineral density of the lumbar spine in Taiwanese postmenopausal women treated with hormone replacement therapy and calcium supplementation: a randomized 2-year study. CLINICAL ENDOCRINOLOGY. 2001. 55: 253-258. (Original Article， SCI ， IF=3.457， Endocrinology & Metabolism: 60/138)
113 Chen M， Shih JC， Chiu WT， Hsieh FJ. Separation of cesarean scar during second-trimester intravaginal misoprostol abortion. OBSTETRICS AND GYNECOLOGY. 1999. 95(5): 840. (Case Report， SCI ， IF=5.175， Obstetrics & Gynecology: 3/80)
技術轉移:
彰化基督教醫院、生寶生物科技股份有限公司
SMA(脊髓性肌肉萎縮症)基因檢測技術移轉合作
歷年計畫:
1. 行政院國家科學委員會專題研究計畫：探討淋巴管生成和通透性改變在胎兒胸水的致病機轉所扮演的角色:分析細胞動力素、生長因子和基因型變化。主持人(94.08-95.07)
2. 行政院國家科學委員會專題研究計畫：抗排斥基因轉殖豬繁殖及分析與克服自然抗體及凝血反應排斥之基因改造豬之產製(三年型)。共同主持人(94.08-97.07)
3. 財團法人彰化基督教醫院院內研究計畫：端粒下微缺損症候群的研究：從染色體1p36 單套症和使用完整一套端粒探針針對智能障礙個體的篩檢來出發。主持人(95.01-95.12)
4. 行政院國家科學委員會專題研究計畫：研究氣管阻塞在除草劑護谷(notrofen)引起的橫隔膜疝氣之大鼠實驗動物模型中對胎兒肺部發育的影響:胎兒治療的分子機轉基礎研究。主持人(95.08-96.07)
5. 財團法人彰化基督教醫院院內研究計畫：染色體不穩定症候群的細胞遺傳學及基因體學研究。主持人(96.01-96.12)
6. 行政院國家科學委員會專題研究計畫：人類染色體次端粒區域的基因體研究:探討在產前診斷和臨床遺傳診斷的應用以及其與癌症細胞核型演化的關係(三年型)。主持人(96.08-99.07)
7. 行政院國家科學委員會專題研究計畫：以基因轉殖豬器官及細胞進行異種移植之研究-抗排斥基因轉殖豬繁殖及分析與克服自然抗體及凝血反應排斥之基因改造豬之產製。共同主持人(96.08-97.07)
8. 財團法人彰化基督教醫院院內研究計畫：哺乳動物細胞株的建立，分析鑑定和應用：從人類細胞到其他物種。主持人(97.01-97.12)
9. 財團法人彰化基督教醫院院內研究計畫：甲基化遺傳性疾病之研究: 從貝克威思-威德曼綜合症開始（整合型計劃）。總計畫主持人(97.04-99.03)
10. 行政院國家科學委員會專題研究計畫：第四屆國際基因體醫學(臨床遺傳學及胎兒醫學新境界)研討會。主持人(97.11.16-97.11.16)
11. 行政院國家科學委員會專題研究計畫：胎兒乳糜胸與淋巴管新生：從基因體學面向發展多模式胎兒治療。主持人(99.08-101.07)
12. 行政院國家科學委員會專題研究計畫：乳房組織Her-2/neu影像之自動分割與狀態評估—免疫組織化學細胞染色影像與螢光原位雜交細胞影像之預後分析與比較。共同主持人(98.08-99.07)
13. 行政院國家科學委員會專題研究計畫：建立台灣哺乳動物核型圖誌及其在基因定位與比較基因體學研究之應用。主持人(99.10-102.09)
14. 財團法人彰化基督教醫院院內研究計畫：探討A型及B型血友病患者於台灣人族群之基因型異常分佈情況。主持人(99.01-100.10)
15. 財團法人彰化基督教醫院院內研究計畫：PTPN11基因與努南氏症候群及兒童白血病之關聯性與遺傳分析。共同主持人(99.01-100.10)
16. 財團法人彰化基督教醫院院內研究計畫：探討染色體次端粒區域的基因與卵巢上皮癌及子宮內膜癌細胞核型演化的關係。協同主持人(99.01-100.10)
17. 財團法人彰化基督教醫院院內研究計畫：利用高密度寡核?酸晶片在智能障礙及發育遲緩兒中快速偵測染色體/基因重組現象。共同主持人(99.01-100.06)
18. 財團法人彰化基督教醫院院內研究計畫：利用染色體頻譜及分子彩化技術深入探討HL-60細胞株之複雜性染色體重組現象。共同主持人(99.01-100.06)
19. 財團法人彰化基督教醫院院內研究計畫：臺灣I細胞疾病的基因突變點資料研究及產前超音波診斷。共同主持人(99.01-99.12)
20. 財團法人彰化基督教醫院院內研究計畫：發展前瞻性單細胞基因檢測與全基因組遺傳篩檢(整合型計劃)。總計畫主持人(100.01-101.12)
21. 行政院國家科學委員會專題研究計畫：胎兒乳糜胸與淋巴管新生:從基因體學面向發展多模式胎兒治療。主持人(99.08-101.07)
22. 行政院國家科學委員會專題研究計畫：建立台灣哺乳動物核型圖誌及其在基因定位與比較基因體學研究之應用。主持人(99.10-102.09)
23. 財團法人彰化基督教醫院院內研究計畫：建立21號染色體三體症之非侵入性產前遺傳診斷平台。共同主持人(101.03-102.02)
24. 財團法人彰化基督教醫院院內研究計畫：結合即時定量PCR及HRM技術建立一套全面性、可單機操作之脊髓性肌肉萎縮症基因檢測法。共同主持人(101.03-102.02)
25. 財團法人彰化基督教醫院院內研究計畫：利用螢光原位雜交技術來探討HL-60細胞株所存在之動態性染色體重組現象。共同主持人(101.03-102.02)
26. 行政院國家科學委員會專題研究計畫：胎兒乳糜胸的病生理與對子宮內治療效果的基因體序列及轉錄體表現分析(三年型)。主持人(101.08-104.07)
27. 財團法人彰化基督教醫院院內研究計畫：建立可供生物醫學應用之台灣哺乳動物活細胞庫。主持人(101.03-102.02)
28. 財團法人彰化基督教醫院院內研究計畫：利用高通量定序分析孕婦血漿DNA 以建立常見胎兒染色體三體症之非侵入性產前遺傳診斷平台。主持人(102.01-103.02)
29. 財團法人彰化基督教醫院院內研究計畫：利用外顯子組晶片結合次世代定序分析發展高通量胎兒發育異常遺傳診斷平台。協同主持人(102.01-103.02)
30. 財團法人彰化基督教醫院院內研究計畫：利用次世代定序技術來探討HL-60 細胞株所存在之動態性核酸變異現象。協同主持人(102.01-103.02)
31. 財團法人彰化基督教醫院院內研究計畫：發展前瞻性次世代基因組定序分子檢測脊髓性肌肉萎縮症。協同主持人(102.01-103.02)
32. 財團法人彰化基督教醫院院內研究計畫：利用次世代定序分析染色體非整倍性與基因缺失及其在微量細胞樣本上的前瞻性應用。主持人(103.03-104.02)
33. 財團法人彰化基督教醫院院內研究計畫：以次世代定序分析急性骨髓性白血病(AML)分子遺傳變異及其在預後評估上的應用。協同主持人(103.03-104.02)
34. 財團法人彰化基督教醫院院內研究計畫：結合鎖核酸修飾探針技術與即時定量聚合?連鎖反應應用於篩檢染色體非整倍體現象。協同主持人(103.03-104.02)
35. 財團法人彰化基督教醫院院內研究計畫：發展單細胞基因拷貝數之即時定量PCR 檢測技術。協同主持人(103.03-104.02)
36. 財團法人彰化基督教醫院院內研究計畫：發展前瞻性之全基因組遺傳篩檢方法以應用於胚胎植入前遺傳檢驗。主持人(103.01-103.12)
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基本資料 Personal information
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李孟倫 醫師
E-mail:20540@cch.org.tw
TEL:(04)723-8595 轉1902
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現任職務 Positions
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彰化基督教醫院 小兒部小兒心臟科主任，資深主治醫師 1994年6月- 2009迄今
彰化基督教醫院 小兒加護病房主任暨指導醫師 1994年6月- 2008迄今
國立臺灣大學醫學院附設醫院 小兒部小兒心臟科研究員 1992年6月- 1994年6月
彰化基督教醫院 小兒科，主治醫師 1991年6月- 1992年6月
彰化基督教醫院 小兒科，住院醫師，總醫師 1987年6月- 1991年6月
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教師資格
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長榮大學講師 93年08月 (93)長大聘兼字第365號 生物科技學系兼任講師
教育部定講師 93年12月 講字第081669號
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學歷 Academic Degrees
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中國醫藥大學醫學系
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執照及資格 Licenses and Qualfications
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1. nvited Guest Reviewer by the International Journal of Cardiology.
2. Invited Guest Reviewer by the Catheter Cardiovascular Intervention.
3. Invited Guest Reviewer by the Yonsei Medical Journa.
4. Paper Citations in the Textbook. (申請人李孟倫發表的論文有6篇被引用在醫學的教科書內)
(1) In: Freedom RM， editor. Congenital heart disease. Textbook of angiocardiography (Vol. I). New York: Futura， 1997:304-5， 333. Lee ML， Wang JK， Lue HC. Levoatriocardinal vein in mitral atresia mimicking obstructive total anomalous pulmonary venous connection. Int J Cardiol 1994;47:1-4.
(2) In: Freedom RM， editor. Congenital heart disease. Textbook of angiocardiography (Vol. II). New York: Futura， 1997:680， 699. Lee ML， Wu MH， Lue HC. Infracardiac total anomalous pulmonary venous connection in tetralogy of Fallot with decreased pulmonary flow and masked pulmonary venous obstruction: report of one case. Int J Cardiol 1994;47:81-4.
(3) In: Freedom RM， editor. Congenital heart disease. Textbook of angiocardiography (Vol. II). New York: Futura， 1997:682， 699. Lee ML， Wang JK， Wu MH， Chu SH， Lue HC. Unusual form of total anomalous pulmonary venous connection with double drainages. Pediatr Cardiol 1995;16:301-3.
(4) In: Freedom RM， editor. Congenital heart disease. Textbook of angiocardiography (Vol. I). New York: Futura， 1997:342， 345. Lee ML， Wu MH， Wang JK， Chiu IS， Lue HC. Echocardiographic features of left juxtaposed atrial appendages associated with dextro- transposition of great arteries. Pediatr Cardiol 1996;17:63-6.
(5) In: Clinical Cytogenetics publication. Sheffield Academic Press Ltd. Lee ML， Chiu IS， Chen SJ， Fang W， Wang YM. Isolated infundibuloarterial inversion and fifth aortic arch in an infant: a newly recognized cardiovascular phenotypes with chromosome 22q11 deletion. Int J Cardiol 1999;71:89-91.
(6) In: Rao PS， Kern MJ， editor. Catheter based devices for the treatment of non-coronary cardiovascular diseases in adults and children. Philadelphia: Lippincott Williams & Wilkins， 2003:467， 473. Lee ML， Chaou WT. Successful transarterial coil embolization of coronary arteriovenous fistula in a 49-day-old infant. J Thorac Imaging 2000;15:513-6.
5. Enrollment in the Biographies (申請人李孟倫被收列在Marquis醫學名人錄內)
(1) In: Marquis. A Who’sWho in America Publication. Who’sWho in Medicineand Healthcare. Millennium (3rd) Edition， p 620.
(2) In: Marquis. A Who’sWho in America Publication. Who’sWho in the World. 18th Edition， p 1248.
6.中華民國心臟學會-小兒心臟學次專科指導醫師
7.中華民國小兒醫學會-小兒急救加護暨重症醫學指導醫師
8.臺灣醫院協會全民健康保險醫院總額支付執行委員會聘任審查醫師
9.臺灣中部地區小兒腸病毒防治重症醫療網 醫療委員會委員
10.彰化基督教醫院小兒部 小兒心臟科主任 小兒加護病房心臟重症指導醫師
11.彰化基督教醫院小兒部 小兒加護病房 腸病毒重症暨葉克膜救護指導醫師
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論文著作 Paper
1. Lee ML， Chiu IS. Inhaled nitric oxide for persistent pulmonary hypertension in a neonate with pulmonary atresia and intact ventricular septum after radiofrequency valvulotomy， balloon valvuloplasty and Blalock-Taussig shunt. Int J Cardiol 2003;87:273-7.
2. Lee ML， Tsao LY， Wang BT， Lee MH， Chiu IS. Maternally inherited unbalanced translocation of chromosome 22 in a 5-day-old neonate with persistent fifth aortic arch and tetralogy of Fallot. Int J Cardiol 2003;90:337-9.
3. Lee ML， Tsao LY， Wang BT， Lee MH， Chiu IS. Revisit on a distinctive chromosome 1p36 deletion syndrome: report of one case and review of the English literature. Int J Cardiol 2004;96:477-80.
4. Lee ML， Tsao LY， Wang YM. Interventional cardiac catheterization for coarctation of the aortic arch and patent ductus arteriosus in a 3-day-old neonate with the Holt-Oram syndrome. Int J Cardiol 2005;101:503-5.
5. Lee ML. Retrograde coaxial transarterial coil occlusion of congenital coronary arteriovenous fistula in a 22-month-old boy and a brief literature review. Int J Cardiol 2005;102:143-6.
6. Lee ML. Regression of cardiac troponin-I and ventriculocoronary communication in an infant with pulmonary atresia and intact ventricular septum after radiofrequency valvulotomy and valvuloplasty. Pediatr Cardiol 2005;26:792-6.
7. Lee ML， Wang JK， Wu MH， Lue HC. Outcome of percutaneous transarterial coil occlusion in patients with isolated patent ductus arteriosus using an upstream-and-push maneuver. J Formos Med Assoc 2006;105:70-6.
8. Lee ML， Chen HN， Chen M， Tsao LY， Wang BT， Lee MH， Chiu IS. Persistent fifth aortic arch associated with 22q11.2 deletion syndrome. J Formos Med Assoc 2006;105:284-9.
9. Lee ML. Endovascular stent for the aortic coarctation in a 1.7 kg premie presenting intractable heart failure. Int J Cardiol 2006;113:236-8.
10. Lee ML， Chen M， Lee MH. Balloon pulmonary valvuloplasty for valvular pulmonary stenosis in double outlet right ventricle incriminating 46，X，der(X)t(X;3)(q28;q13.2)mat in an infant. Int J Cardiol 2007;114:e27-30.
11. Lee ML， Chen M. Tibial agenesis-ectrodactyly syndrome associated with novel cardiovascular and bronchopulmonary malformations. Clin Dysmorphol 2007;16:47-9.
12. Lee ML， Yang SC， Yang AD. Transcatheter occlusion of the isolated scimitar vein anomaly camouflaged under dual pulmonary venous drainage of the right lung by the Amplatzer Ductal Occluder. Int J Cardiol 2007;115:e90-3.
13. Lee ML. Diagnosis of the double aortic arch and its differentiation from the conotruncal malformations. Yonsei Med J 2007;48:818-26.
14. Lee ML. Radiofrequency pulmonary valvulotomy and valvuloplasty using transductal guidewire rail and translevofemoral venous slide: an unhackneyed solution to a newborn with pulmonary atresia， intact ventricular septum， upstream patent ductus arteriosus， and sigmoid inferior vena cava. Int J Cardiol 2007;123:e3-7.
15. Lee ML. Isolated and complex scimitar vein anomalies and their differentiation from the meandering right pulmonary vein. Yonsei Med J 2007;48:973-80.
16. Lee ML， Lue HC， Chiu IS， Chiu HY， Tsao LY， Cheng CY， Yang AD. A systematic classification of the congenital bronchopulmonary vascular malformations: dysmorphogeneses of the primitive foregut system and the primitive aortic arch system. Yonsei Med J 2008;49:90-102.
17. Lee ML， Hsia CH. Percutaneous transluminal coronary angioplasty for coronary arterial stenosis in a 10-year-old boy with Kawasaki disease and a brief review. Pediatr Cardiol 2008;29:422-6.
18. Lee ML. Major determinants and long-term outcomes of successful balloon dilatation for the pediatric patients with isolated native valvular pulmonary stenosis: a 10-year institutional experience. Yonsei Med J 2008;49:416-21
19. Lee ML， Peng JW， Hung GU. Catheter-based management for the congenital coronary arteriovenous fistula indicated by the stress 99mTc-MIBI SPECT. Int J Cardiol 2008;126:e13-6.
20. Lee ML， Chen M. Diagnosis and management of congenital coronary arteriovenous fistula in the pediatric patients presenting congestive heart failure and myocardial ischemia. Yonsei Med J 2008. (In Presss)
21. Lee ML， Chen M. Outcomes of pulmonary valvulotomy and valvuloplasty in neonates with pulmonary atresia and intact ventricular septum using a flexible 2-French radiofrequency catheter followed by gradational balloon dilatation. Yonsei Med J 2009. (In Presss)
Summary: G x J x A of all 21 papers (total scores 869.5)
A. [Letter-to-the-Editor; G = 2] (x 10 reports):
(1) Int J Cardiol (IF: 2.234; 35.1%; sole author x 3 reports) = G x J x A = 2 x 4 x 6 (x 3) = 144
(2) Int J Cardiol (IF: 2.234; 35.1%; first author x 7 reports) = G x J x A = 2 x 4 x 5 (x 7) = 280
B. [Original Article; G = 3] (x 11 reports):
(1) Pediatr Cardiol (IF: 0.826; 74.3%; sole author x 1 report) = G x J x A = 3 x 2 x 6 (x 1) = 36
(2) Pediatr Cardiol (IF: 0.826; 74.3%; first author x 1 report) = G x J x A = 3 x 2 x 5 (x 1) = 30
(3) J Formos Med Assoc (IF: 0.533; 74.8%; first author x 2 reports) = G x J x A = 3 x 2 x 5 (x 2) = 60
(4) Clin Dysmorphol (IF: 0.534; 92.4%; first author x 1 report) = G x J x A = 3 x 1.5 x 5 (x 1) = 22.5
(5) Yonsei Med J (IF: 0.850; 58.3%; sole author x 3 reports) = G x J x A = 3 x 3 x 6 x3 = 162
(6) Yonsei Med J (IF: 0.850; 58.3%; first author x 3 report) = G x J x A = 3 x 3 x 5 x 3 = 135
個人簡介 Brief Personal History
1992年6月至1994年6月年，於國立臺灣大學醫學院附設醫院小兒部小兒心臟科當研究員，師承呂鴻基教授，吳美環教授，以及王主科教授，研究主題為小兒心臟醫學。結業後回到彰化基督教醫院小兒部服務，進行多項小兒先天性心臟病和後天性心臟病之研究迄今。
總計過去發表的論文約62篇(附件二)而近五、六年內已發表20多篇SCI期刊論文。重要成果包括：
(1)利用介入性心導管 (interventional cardiac catheterization) 治療小兒先天性心臟病，包括：先天性肺動脈狹窄、先天性肺動脈閉鎖、先天性主動脈弓窄縮、先天性冠狀動靜脈廔管畸形、先天性開放性動脈導管、先天性scimitar靜脈畸形等等。
(2)利用介入性心導管 (interventional cardiac catheterization) 治療小兒後天性心臟病，包括：川崎病併發冠狀動脈狹窄。
(3)利用介入性心導管 (interventional cardiac catheterization) 以血管內支架治療低體重兒先天性主動脈弓窄縮。
(4)心臟遺傳學領域，在陳明博士的協助之下發現del22q11.2 syndrome在小兒先天性心臟病的特殊表現型以及不同的遺傳模式。
(5)發現小兒先天性肺臟疾病合併心臟血管疾病的七大疾病分類。
申請人本身在醫學中心具有多項小兒先天性心臟病和後天性心臟病等研究背景及教學經驗。此次申請人所提列可教授之相關課程包括
(A) 專業科目：
(1) 小兒醫學概論
(2) 小兒心臟生理學
(3) 小兒心臟病理學 (先天性心臟病和後天性心臟病)
(4) 生理學概論
(5) 小兒腸病毒防治
(6) 冠狀動脈心臟病
申請人除了上述專業領域的科目外，對於以下通識科目，亦具有高度教學的熱忱
(B) 通識科目：
(1) 如何成為父母達人
(2) 小兒預防醫學簡介
(3) 醫藥與人生
(4) 醫學史
(5) 健康與人生
(6) 休閒與人生
(7) 咖啡的人文史觀
(8) 黃金比例的美學與藝術史觀
(9) 藝術與生活
(10) 美學與藝術欣賞
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基本資料 Personal information
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馬國欽 博士 (Gwo-Chin Ma，PhD)
E-mail:128729@cch.org.tw
TEL:(04)723-8595
轉2319/2331
FAX:(04)7249847
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學歷 Academic Degrees
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現任職務 Positions
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2001-2006 台灣大學動物學研究所博士
1997-1999 台灣大學漁業科學研究所碩士
1993-1997 輔仁大學生物學系
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彰化基督教醫院 基因醫學部 分子遺傳組 副研究員
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學會職務 Professional Societies and Appointments
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2001~ 中華民國魚類學會會員
2001~ 中華民國溪流環境協會會員
2005~ 美國魚類暨兩棲爬蟲協會會員
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學術榮譽 Academic merits
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2005 教育部補助博士班學生出國研究論文報告
2003 中華民國魚類學會最佳論文獎
1999 國立台灣大學漁業科學研究所最佳論文獎
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經歷 Experience
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2008~ 彰化基督教醫院基因醫學部 副研究員
2008~ 中山醫學大學生化暨生物科技研究所 兼任助理教授
2008-2008 彰化基督教醫院實驗動物中心 副主任
2006-2007 彰化基督教醫院基因醫學部 博士後研究員
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論文著作 Paper
1. Ma GC#， Ke YY#， Chang SP， Lee DJ， Chen YC， Chen M* A compound heterozygous GNPTAB mutation causes mucolipidosis II with marked hair color change in a Han Chinese baby (in press).
2. Yu HT#， Ma GC#， Lee DJ#， Chin SC， Tsao HS， Wu SH， Shin SY， Chen M*. Molecular delineation of the Y-borne Sry gene in the Formosan pangolin (Manis pentadactyla pentadactyla) and its phylogenetic implications for Pholidota in extant mammals. Theriogenology; 2011:75:55-64.
3. Chen CP， Chen M， Ko TM， Ma GC， Tsai FJ， Tsai MS， Wu PC， Lee CC， Chen LF， Wang W. Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 8. Taiwanese Journal of Obstetrics & Gynecology; 2010: 49: 500-505
4. Chen CP， Chen M， Su YN， Tsai FJ， Chern SR， Hsu CY， Wu PC， Town DD， Lee DJ， Ma GC， Wang W. Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 7p (7p15.3→pter) and partial monosomy 13q (13q33.3→qter) associated with dandy-walker malformation， abnormal skull develipment and microcephaly. Taiwanese Journal of Obstetrics & Gynecology; 2010: 49: 320-326
5. Lee NC#， Chen M#， Ma GC， Lee DJ， Wand TJ， Ke YY， Chien YH， Hwu WL*. Complex rearrangements between chromosomes 6， 10 and 11 with multiple deletions at breakpoints. American Journal of Medical Genetics Part A; 2010: 152A:2327-2334.
6. Kuo SJ#， Chen M#， Ma GC#， Chen ST， Chang SP， Lin W-Y， Chen YC， Lee TH， Lin TT， Liu CS*.(# equal contribution) Number of somatic mutations in the mitochondrial D-loop region indicates poor prognosis in breast cancer， independent of TP53 mutation. Cancer Genetics and Cytogenetics; 2010: 201: 94-101.
7. Chen M， Ke YY， Chang SP， Lee DJ， Chen CH， Ma GC*. Prenatal transient alveolomaxillary defect in a case of Mucolipidosis II (I-cell disease). Ultrasound in Obstetrics & Gynecology; 2010: 36: 255-258.
8. Ma GC#， Ke YY#， Lee ML， Tsao LY， Lee DJ， Yang CW， Kuo SJ， Chiu HY， Chen M*. De novo triple segmental aneuploid of 1p， 1q and 4q in a girl with hypertrophic cardiomyopathy， muscle hypotonia and multiple congenital anomalies. American Journal of Medical Genetics Part A;2010:152A:784-788.
9. Chen CH， Chen TH， Kuo SJ， Chen CP， Lee DJ， Ke YY， Yeh KT， Ma GC， Liu SL， Shih JC， Chen M*. Importance of a widened genetic workup before attempting pleurodesis by OK-432 in fetal chylothorax: an insight inferred from a case of Noonan syndrome with PTPN11 mutation. Lymphology; 2009: 42: 134-138.
10. Chen M， Kuo HH， Huang YC， Ke YY， Chang SP， Chen CP， Lee DJ， Lee ML， Lee MH， Chen TH， Chen CH， Lin HM， Liu CS，Ma GC*. (#Equal contribution). A Case of Restrictive Dermopathy with Complete Chorioamniotic Membrane Separation caused by a Novel Homozygous Nonsense Mutation in the ZMPSTE24 Gene. American Journal of Medical Genetics Part A; 2009: 149A: 1550-1554.
11. Chen LY， Chen TH， Wen PY， Chou CH， Ying TH， Chang SP， Ma GC， Chen Ming*. Differential expression of NUDT9 at different phases of the menstrual cycle and in different components of normal and neoplastic human endometrium. Taiwanese Journal of Obstetrics & Gynecology; 2009: 48(2): 96-107.
12. Ma GC#， Liu CS，， Chang SP， Yeh KT， Ke YY， Chen TH， Wang BBT， Kuo SJ， Shih JC， Chen M*. (#Equal contribution). A recurrent ITGA9 missense mutation in human fetuses with severe chylothorax: possible correlation with poor response to fetal therapy. Prenatal Diagnosis; 2008: 28: 1057-1063.
13. Ma GC， Chang SD， Chang Y， Chang SP， Yang CW， Lee MJ， Lee TH and Chen M*. Rapid prenatal confirmation of LIT1 hypomethylation using a novel quantitative method (E-Q-PCR) in Beckwith-Wiedemann syndrome fetuses impressed with ultrasonography. Fertility and Sterility; 2008: 90: 1279-1282.
14. Ma GC， Chang SP， Chen M*， Kuo SJ， Chang CS， Shen MC*. (#Equal contribution). The spectrum of the factor 8 (F8) defects in Taiwanese Patients with hemophilia A. Haemophilia: 2008: 14: 787-795.
15. Ke YY#， Lee DJ#， Ma GC， Wang BT， Chen M*. (#Equal contribution). Interstitial deletion 13q31 associated with normal phenotype: cytogenetic study of a family with concomitant segregation of reciprocal translocation and interstitial deletion. Journal of the Formosan Medical Association: 2007: 106: 582-588.
16. Chen M， Hsieh CY， Shih JC， Chou CH， Ma GC， Chen TH， Lee TH， Tsai HD， Cameron AD， Chen CP*. (#Equal contribution). Proinflammatory macrophage migratory inhibition factor and interleukin-6 are concentrated in pleural effusion of human fetuses with prenatal chylothorax. Prenatal Diagnosis 2007: 27: 435-441.
17. Ma GC， Watanabe K， Tsao HS， Yu HT*. Mitochondrial phylogeny reveals the artificial introduction of the pale chub Zacco platypus (Cyprinidae) in Taiwan. Ichthyological Research 2006: 53: 323-329.
18. Ma GC， Tsao HS， Lu HP， Yu HT*. AFLPs congruent with morphological differentiation of Asian common minnow Zacco (Pisces: Cyprinidae) in Taiwan. Zoologica Scripta 2006: 35: 341-351.
19. Chiang HC， Hsu CC， Lin HD， Ma GC， Chiang TY， Yang HY*. Population structure of bigeye tuna (Thunnus obesus) in the South China Sea， Philippine Sea and western Pacific Ocean inferred from mitochondrial DNA. Fisheries Research 2006: 79: 219-225.
20. Ma GC#， Wang TM#， Su CY， Wang YL， Chen S，Tsai HJ*. (2001). Retina-specific cis-elements and binding nuclear proteins of carp rhodopsin gene. FEBS Letters 508: 265-271.
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基本資料 Personal information
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張舜評 研究助理 (Shun-Ping Chang)
E-mail:70914@cch.org.tw
TEL:(04)723-8595
轉2331/2332
FAX:(04)7249847
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學歷 Academic Degrees
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現任職務 Positions
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2006~ 今 中興大學生命科學系博士班 博士候選人
2002~2003 交通大學科技法律研究所 18期專利工程師
2001~2003 交通大學生物科技研究所 碩士
1991~1995 中國醫藥學院醫事技術學系 學士
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彰化基督教醫院 基因醫學部 分子遺傳組 研究助理
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碩士論文
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執照及資格
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Characterization of Arthrobacter globiformis histamine oxidase by mutagenesis.
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中華民國醫事檢驗師執照員
中華民國教育部講師證書
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經歷 Experience
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1997~1999 彰化基督教醫院檢驗醫學科臨床醫檢師
1999~2000 彰化基督教醫院檢驗醫學科小組長
2000~2001 彰化基督教醫院檢驗醫學科組長
2000~2001 中華民國醫檢學會會員代表
2005~2005 美國喬治城大學醫學中心研究助理
2005~2007 長榮大學生物科技學系兼任講師
2004~2009 彰化基督教醫院研究部研究助理
2009~今 中華民國醫檢學會會員代表員
2008~今 彰化基督教醫院專利及技術移轉管理小組委員
2009~今 彰化基督教醫院基因醫學部組長
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論文著作 Paper
1. Chen M， Ho WK， Hsieh TC， Lee CS， Hsiao CC， Chang SP， Lee DJ， Yang AD. Huge duplication cyst of small intestine: ultrasonographic features and prenatal aspiration.Prenat Diagn. 2006 Jan;26(1):86-88. (on the field of clinical genetics， SCI)
2. Chen M， Chang SP， Yin PL， Sapeta M， Barringer S， Kuo SJ， Yu HT， Wang BB. Prenatal identification of small supernumerary marker chromosomes by FISH in an infant born with mild congenital anomalies. Prenat Diagn. 2006 Mar 27;26(4):383-387 (on the field of clinical genetics， SCI)
3. Chen M， Kuo SJ， Liu CS， Chen WL， Ko TM， Chen TH， Chang SP， Huang CH， Chang YY， Wang BT. A novel heterozygous missense mutation 377T>C (V126A) in TGIF gene in a family segregated with holoprosencephaly and moyamoya disease. Prenat Diagn. 2006 Mar;26(3):226-30 (on the field of clinical genetics， SCI)
4. Chen M， Hwu WL， Kuo SJ， Chen CP， Yin PL， Chang SP， Lee DJ， Chen TH， Wang BT， Lin CC. Subtelomeric rearrangements and 22q11.2 deletion syndrome in anomalous growth-restricted fetuses with normal or balanced G-banded karyotype. Ultrasound Obstet Gynecol. 2006 Dec;28(7):939-43. (on the field of clinical genetics， SCI).
5. Ma GC， Chang SD， Chang Y， Chang SP， Yang CW， Lee MJ， Lee TH and Chen M. Rapid prenatal confirmation of LIT1 hypomethylation using a novel quantitative method (E-Q-PCR) in Beckwith-Wiedemann syndrome fetuses impressed with ultrasonography. Fertility and Sterility. 2008 Oct;90(4):1279-1282. (SCI)
6. Ma GC*， Chang SP*， Chen M， Kuo SJ， Chang CS， Shen MC. The spectrum of the factor 8 (F8) defects in Taiwanese patients with haemophilia A. Haemophilia. 2008， 14， 787–795 (* contributed equally)
7. Ma GC， Liu CS， Chang SP， Yeh KT， Ke YY， Chen TH， Wang BB， Kuo SJ， Shih JC， Chen M. A recurrent ITGA9 missense mutation in human fetuses with severe chylothorax: possible correlation with poor response to fetal therapy. Prenat Diagn. 2008 Nov;28(11):1057-1063. (on the field of clinical genetics， SCI)
8. Lin CJ， Chang SP， Ke YY， Chiu HY， Tsao LY， Chen M. Phenotype and Genotype of Two Taiwanese Cystic Fibrosis Siblings and a Survey of Delta F508 in East Asians. Pediatr Neonatol 2008 Dec;49(6):240−244.
9. Chen M， Kuo HH， Huang YC， Ke YY， Chang SP， Chen CP， Lee DJ， Lee ML， Lee MH， Chen TH， Chen CH， Lin HM， Liu CS， Ma GC. A case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in the ZMPSTE24 gene. Am J Med Genet A. 2009 Jul;149A(7):1550-1554.
10. Chen LY， Chen TH， Wen PY， Chou CH， Ying TH， Chang SP， Ma GC， Chen M. Differential Expression of NUDT9 at Different Phases of the Menstrual Cycle and in Different Components of Normal and Neoplastic Human Endometrium. Taiwan J Obstet Gynecol. 2009 Jun;48(2):96-107.（SCI， ， since 2008）
11. Lee NC*， Chang SP*， Chang CS， Chen CH， Lee DJ， Lin CC， Hwu WL， Chen M. Cryptic subtelomeric deletion plus inverted duplication at chromosome 18q in a fetus: molecular delineation by multicolor banding. Prenat Diagn. 2009 Nov;29(11):1058-1060. (* contributed equally)
12. Chen M， Ke YY， Chang SP， Lee DJ， Chen CH， Ma GC. Transient alveolomaxillary defect: a prenatal sign of mucolipidosis II (I-cell disease). Ultrasound Obstet Gynecol. 2010 Mar.(SCI; in press)
13. Kuo SJ， Chen M， Ma GC， Chen ST， Chang SP， Lin W-Y， Chen YC， Lee TH， Lin TT， Liu CS. The Relevance of Somatic Mutations in Mitochondrial D-loop Region and Their Relationship to TP53 Mutations in Breast Cancer. Cancer Genet Cytogen 2010(SCI; in press)
14. Ma GC， Ke YY， Chang SP， Lee DJ， Chen YC， Chen M. A compound heterozygous GNPTAB mutation causes mucolipidosis II with marked hair color change in a Han Chinese baby (under review).
會議著作
1. Chang Shun-Ping ， Mike Sapeta， Yu Ya-Yen ， Lin Jen-Shio ， Wang Bao-Tyan. Prenatal identification of extra multiple marke chromosomes by FISH in an infant born with mild congenital anomalies. Presented at the 2004 Annual Meeting of Taiwan Society of Laboratory Medicine， Taipei， Taiwan， November 6-7， 2004: PA02
2. Chen M， Shih JC， Chang SP， Lee MH， Wang BT: Prenatal Diagnosis of Beckwith-Wiedemann Syndrome by Three Dimensional Ultrasound and Rescued with EXIT procedure. Presented at the 36th Annual Clinical Genetics Meeting， Dallas， Texas， USA， March 17-20， 2005: 251.
3. Chang Shun-Ping， Lee Dong-Jay， Yin Bao-Lun， Wang Bao-Tyan， Hwu Wuh-Liang， Chen Ming: Subtelomeric deletions in patients with craniofacial dysmorphism or developmental delay in Taiwan. Presented at the 7th Chinese Laboratory Medicine Conference in Taipei， November 4-6， 2005: P08
4. Bao-Lun Yin， Dong-Jay Lee， Shun-Ping Chang， Mei-Hui Lee， Bao-Tyan Wang ， Ming Chen: Molecular cytogenetic diagnosis of STS mutations in a family with X-linked recessive ichthyosis. Presented at the 7th Chinese Laboratory Medicine Conference in Taipei， November 4-6， 2005: P09
5. Lee Dong-Jay， Chang Shun-Ping， Yin Bao-Luen， Li Hsin-Yi， Chang Hui- Chuan， Wang Bao-Tyan， Chen Ming: Clinical prenatal diagnosis of an idic(Y) by FISH and SKY in a mosaic Turner fetus. Presented at the 7th Chinese Laboratory Medicine Conference in Taipei， November 4-6， 2005: P13
6. Shun-Ping Chang， Ming Chen， Don-Jay Lee， Ming-Ching Shen: Genotyping of factor VIII by TTGE (Temporal Temperature Gradient Gel Electrophoresis) and I-PCR (Inverse-Polymerase Chain Reaction) followed by sequencing in a family segregated with Severe Hemophilia A. Presented at the 56th Annual Meeting of American Society of Human Genetics， New Orleans， Louisiana， USA， October 9-13， 2006: 1306C.
7. Shun-Ping Chang， Ming Chen， Don-Jay Lee， Pao-Lun Yin， Pao-Ying Wen， Ming-Ching Shen: Molecular Diagnosis of Hemophilia A by Temporal Temperature Gradient Gel Electrophoresis and Inverse-Polymerase Chain Reaction followed by sequencing in a family segregated with Severe Hemophilia A. Presented at the 2006 Annual Meeting of Taiwan Society of Laboratory Medicine， Taipei， Taiwan， November 18-19， 2006: P002.
8. Don-Jay Lee， Shun-Ping Chang， Pao-Lun Yin， Hsin-Yi Li， Mei-Hui Lee， Mon-Yi Lin， Hui-Chuan Chang， Pao-Ying Wen， Ming Chen. Clinical prenatal diagnosis of 22ps+ by acro p-arm fluorescent in situ hybridization. Presented at the 2006 Annual Meeting of Taiwan Society of Laboratory Medicine， Taipei， Taiwan， November 18-19， 2006: P001
9. Shun-Ping Chang， Gwo-Chin Ma， Chin-Wen. Yang1， Dong-Jay Lee， and Ming Chen. Rapid prenatal detection of LIT1 hypomethylation using a novel quantitative method (E-Q-PCR) in Beckwith-Wiedemann syndrome fetuses impressed with ultrasonography. Presented at the 57th Annual Meeting of American Society of Human Genetics， San Diego， California， USA， October 23-27， 2007: 713T.
10. Gwo-Chin Ma， Shun-Ping Chang， Ming Chen， Ming-Ching Shen. The spectrum of the FVIII defects in Taiwanese Patients with Hemophilia A. Presented at the 57th Annual Meeting of American Society of Human Genetics， San Diego， California， USA， October 23-27， 2007: 1083F.
11. Bao-Lun Yin， Dong-Jay Lee， Shun-Ping Chang， Mei-Hui Lee， Bao-Tyan Wang ， Ming Chen: Molecular cytogenetic diagnosis of STS mutations in a family with X-linked recessive ichthyosis. Presented at the 7th Chinese Laboratory Medicine Conference in Taipei， November 4-6， 2005: P09
12. Shun-Ping Chang， Don-Jay Lee， Pao-Lun Yin， Gwo-Chin Ma， Ming Chen. Prenatal FISH characterization of small supernumerary marker chromosomes (SMCs). Presented at the 2007 Annual Meeting of Taiwan Society of Laboratory Medicine， Taipei， Taiwan， November 10-11， 2007: P132.
13. Yang CW， Chang SP， Ma GC ， Lee DJ ， Chen M. Prenatal diagnosis of Beckwith-Wiedemann syndrome using methylation-sensitive endonuclease- coupled quantitative polymerase chain reaction (E-Q-PCR). Presented at the 2007 Annual Meeting of Taiwan Society of Laboratory Medicine， Taipei， Taiwan， November 10-11， 2007: P130.
14. Yin Pao-Lun， Lee Dong-Jay， Chang Shun-Ping， Wang Bao-Tyan， Chen Ming. Rapid prenatal diagnosis of chromosome abnormality- the application of interphase FISH in uncultured amniocytes. Presented at the 2007 Annual Meeting of Taiwan Society of Laboratory Medicine， Taipei， Taiwan， November 10-11， 2007: P133.
15. Lee Dong-Jay， Chang Shun-Ping， Yin Pao-Lun， Gwo-Chin Ma， Chen Ming. High throughput factor VIII gene of hemophilia A mutation screening using temporal temperature gradient electrophoresis. Presented at the 2007 Annual Meeting of Taiwan Society of Laboratory Medicine， Taipei， Taiwan， November 10-11， 2007: R402-14.
16. Shun-Ping Chang， Yu-Yuan Ke， Gwo-Chin Ma， Ming Chen. Molecular characterization of three Taiwanese families with Lowe syndrome. Presented at the 59th Annual Meeting of American Society of Human Genetics， Honolulu， Hawaii， USA， October 20-24， 2009: 472W.
17. S.P. Chang， Y.Y. Ke， G.C. Ma， and M. Chen. Three novel OCRL mutations in Lowe syndrome among Taiwanese families. Presented at the 5th International Symposium on Genomic Medicine of CCH 2009， Changhua， Taiwan， October 30， 2009. (論文競賽壁報組第三名)
18. Shun-Ping Chang， Sheng-Hai Wu. Molecular cytogenetic studies in two species of genus Kurixalus (Rhacophoridae， Anura). Presented at the 2010 Joint Meeting of Ichthyologists and Herpetologists， Providence， Rhode Island， USA， July 10， 2010.
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基本資料 Personal information
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李東杰 研究助理 (Dong-Jay Chang)
E-mail:118862@cch.org.tw
TEL:(04)723-8595
轉2331/2332
FAX:(04)7249847
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學歷 Academic Degrees
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現任職務 Positions
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1998~2001 東華大學生物技術研究所
1995~1998 中國文化大學森林系
1990~1995 中華醫專醫事檢驗科
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彰化基督教醫院 研究部 遺傳發育與系統生物研究室 研究助理
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執照及資格 Licenses and Qualfications
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碩士論文
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中華民國醫事檢驗師執照員
中華民國教育部講師證書
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Study on the Transformation Systems of the Oriental Lily.
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經歷 Experience
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2004-今 彰化基督教醫院 教學研究部 研究助理
2001-2002 中興大學植病系 研究助理
2000-2001 台中榮總醫研部 研究助理
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論文著作 Paper
1. Yu HT， Ma GC， Lee DJ， Chin SC， Tsao HS， Wu SH， Shin SY， Chen M. Molecular delineation of the Y-borne Sry gene in the Formosan pangolin (Manis pentadactyla pentadactyla) and its phylogenetic implications for Pholidota in extant mammals. Theriogenology {in press}
2. Lee NC#， Chen M， Ma GC， Lee DJ， Wand TJ， Ke YY， Chien YH， Hwu WL*. Complex rearrangements between chromosomes 6， 10 and 11 with multiple deletions at breakpoints.Am J Med Genet A {in press}
3. Chen M， Ke YY， Chang SP， Lee DJ， Chen CH， Ma GC*. Prenatal transient alveolomaxillary defect in a case of Mucolipidosis II (I-cell disease). Ultrasound in Obstetrics & Gynecology {in press}
4. Ma GC， Ke YY， Lee ML， Tsao LY， Lee DJ， Yang CW， Kuo SJ， Chiu HY， Chen M. De novo triple aneuploid of 1p， 1q， 4q in a girl with hypertrophic cardiomyopathy， muscle hypotonia， and multiple congenital anomalies. Am J Med Genet A 2010; 152A(3):784-8.
5. Chen CH， Chen TH， Kuo SJ， Chen CP， Lee DJ， Ke YY， Yeh KT， Ma GC， Liu CS， Shih JC， Chen M. Genetic evaluation and management of fetal chylothorax: review and insights from a case of Noonan syndrome. Lymphology 2009; 42(3):134-8.
6. Lee NC， Chang SP， Chang CS， Chen CH， Lee DJ， Lin CC， Hwu WL， Chen M.Cryptic subtelomeric deletion plus inverted duplication at chromosome 18q in a fetus: molecular delineation by multicolor banding. Prenat Diagn 2009; 29(11):1058-60.
7. Chen M， Kuo HH， Huang YC， Ke YY， Chang SP， Chen CP， Lee DJ， Lee ML， Lee MH， Chen TH， Chen CH， LinHM， Liu CS， Ma GC*. A case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in the ZMPSTE24 gene. Am J Med Genet. 2009; 149 A: 1550-1554.
8. Wu SH#， Chen M#， Chin SC， Lee DJ， Wen PY， Lee LY， Wang BT， Yu HT*. (#Equal contribution) Cytogenetic analysis of Formosan pangolin， Manis pentadactyla pentadactyla (Pholidota: Mammalia). Zoological Studies. 2007; 46: 389-396.
9. Ke YY#， Lee DJ #， Ma GC， Wang BT， Chen M*. (#Equal contribution) Interstitial deletion 13q31 associated with normal phenotype: cytogenetic study of a family with concomitant segregation of reciprocal translocation and interstitial deletion. J Formos Med Assoc. 2007; 106: 582-588.
10. Kuo S-J， Wang B-T， Chang C-S， Chen T-H， Yeh K-T， Lee DJ， Yin P-L， Chen M* Comparison of immunohistochemical and fluorescence in situ hybridization assessment for HER-2/neu status in Taiwanese breast cancer patients. Taiwanese J Obstet Gynecol 2007; 46: 146-151.
11. Chen M， Hwu WL， Kuo SJ， Yin PL， Chang SP， Lee DJ， Chen TH， Wang BT， Lin CC*. Screening of subtelomere rearrangements and 22q11.2 deletion syndrome in fetuses affected with intrauterine growth restriction plus structural anomaly but with normal or balanced G-banded karyotype. Ultrasound Obstet Gynecol. 2006; 28: 939-943.
12. Chen M*， Ho WK， Hsieh TC， Lee CH， Hsiao CC， Chang SP， Lee DJ， Yang AD. Huge duplication cyst of small intestine: ultrasonographic features and antenatal aspiration. Prenatal Diagnosis. 2006; 26: 86-89.
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基本資料 Personal information
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陳黎雯 事務員 (Li-Wen Chen)
E-mail:99269@cch.org.tw
TEL:(04)723-8595
轉2331/2332
FAX:(04)7249847
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學歷 Academic Degrees
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現任職務 Positions
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2004-2006 私立建國科技大學國際企業管理系
2000-2003 私立僑光技術學院企業管理科
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彰化基督教醫院 基因醫學部 分子遺傳組 事務員
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基本資料 Personal information
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林文音 研究助理 (Wen-Yin Lin，RA)
E-mail:148909@cch.org.tw
TEL:(04)723-8595
轉2331/2332
FAX:(04)7249847
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學歷 Academic Degrees
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現任職務 Positions
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2006-2009 高雄醫學大學醫學系醫學遺傳學科碩士班 碩士
2004-2006 輔英科技大學醫事技術學系 學士
1999-2004 中台科技大學醫學檢驗生物技術系 五專部 大專
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彰化基督教醫院 基因醫學部 分子遺傳組 研究助理
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執照及資格 Licenses and Qualfications
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I中華民國醫事檢驗師執照
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論文著作 Paper
1.Kuo SJ， Chen M， Ma GC， Chen ST， Chang SP，Lin WY， Chen YC， Lee TH， Lin TT， Liu CS*. Number of somatic mutations in the mitochondrial D-loop region indicates poor prognosis in breast cancer， independent of TP53 mutation. Cancer Genet Cytogen {in press} SCI (IF=1.537)
2. Lin WY， S.H Juo， R. Wu， C.Y Long， E.M Tsai. VEGF gene increases susceptibility to endometriosis. Presented at the 57th Annual Meeting of American Society of Human Genetics， San Diego， California， USA， October 23-27， 2007: 2610/T.
3. Y. Wang，Lin WY， C. Lin， R. Wu， E. Tsai， S. Juo. Identification of miR-520 microRNA as an underlying mechanism for the 3’ UTR polymorphism of MMP2 conferring risk for endometriosis. Presented at the 58th Annual Meeting of American Society of Human Genetics， Philadelphia， Pennsylvania， USA， November 11-15， 2008: 1365/W.
4. MMP-2 Polymorphism and miRNA effects associated with endometriosi.(碩士論文)
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基本資料 Personal information
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陳彥潔 研究助理 (Yen-Chieh Chen)
E-mail:149035@cch.org.tw
TEL:(04)723-8595
轉2331/2332
FAX:(04)7249847
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學歷 Academic Degrees
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經歷 Experience
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2006-2008 成功大學化學研究所
2002-2005 成功大學化學系科
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2008-2009 成功大學普化實驗助教
2009~今 彰化基督教醫院遺傳研究室研究助理
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現任職務 Positions
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彰化基督教醫院 研究部 遺傳發育與系統生物研究室 研究助理
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論文著作 Paper
1. Kuo SJ， Chen M， Ma GC， Chen ST， Chang SP， Lin W-Y， Chen YC， Lee TH， Lin TT， Liu CS*. Number of somatic mutations in the mitochondrial D-loop region indicates poor prognosis in breast cancer， independent of TP53 mutation. Cancer Genet Cytogen {in press} SCI (IF=1.537)
2. Quantitative nuclear proteome for the characterization of lead compounds.(碩士論文)
3. Quantitative analysis of nuclear proteome of human lung adenocarcinoma A549 cells induced by VEGF-C.
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