GGAラボ

GGA Publications

2020

SNP

Segmental isodisomy in PradereWilli syndrome patients: The experience of a single diagnostic center.

Pediatr Neonatol. 2020;61(3):343-345. doi:10.1016/j.pedneo.2020.02.007

Detection of Copy Number Variants With Chromosomal Microarray in 10 377 Pregnancies at a Single Laboratory .

Acta Obstet Gynecol Scand. 2020;99(6):775-782. doi:10.1111/aogs.13886

2019

PGT-A

Adjusted mitochondrial DNA quantification in human embryos may not be applicable as a biomarker of implantation potential.

J Assist Reprod Genet. 2019;36(9):1855-1865. doi:10.1007/s10815-019-01542-6

Targeting myotonic dystrophy by preimplantation genetic diagnosiskaryomapping.

Taiwan J Obstet Gynecol. 2019;58(6):891-894. doi:10.1016/j.tjog.2019.04.002

Healthy live births after mosaic blastocyst transfers with the use of next-generation sequencing.

Taiwan J Obstet Gynecol. 2019;58(6):872-876. doi:10.1016/j.tjog.2019.07.032

2018

SNP

Prenatal diagnosis of paternal uniparental disomy for chromosome 14 using a singlenucleotide-polymorphism-based microarray analysis: A case report.

 J Formos Med Assoc. 2019;118(3):739-742. doi:10.1016/j.jfma.2018.12.010

CAPS

A case of adult -onset Still's disease with mutations of the MEFV gene who is partially responsive to colchicine.

Medicine (Baltimore). 2018;97(15):e0333. doi:10.1097/MD.0000000000010333

Review of Cryopyrin−associated periodic syndrome in Taiwan (台灣Cryopyrin相關週期性症候群概敘).

2018 Conference of Taiwan Pediatric Association

2017

PGT-A

Adjusted calculation of mitochondria DNA/ nuclear DNA ratio in human embryos does not favor it as a biomarker for human embryo implantation potential.

2017 Conference of Taiwanese Society for Reproductive Medicine

Prediction of a rare chromosomal aberration simultaneously with next generation sequencing-based comprehensive chromosome screening in human preimplantation embryos for recurrent pregnancy loss.

J Assist Reprod Genet. 2018;35(1):171-176. doi:10.1007/s10815-017-1044-x

FXS

A 15-year-long Southern blotting analysis of FMR1 to detect female carriers and for prenatal diagnosis of fragile X.

Clin Genet. 2017;92(2):217-220. doi:10.1111/cge.12981

NIPT

Application of non-invasive prenatal testing in late gestation in a pregnancy associated with intrauterine growth restriction and trisomy 22 confined placental mosaicism.

Taiwan J Obstet Gynecol. 2017;56(5):691-693. doi:10.1016/j.tjog.2017.09.001

2016

PGT-A

Reanalysis by Next Generation Sequence on miscarriage euploid embryos detected by aCGH.

2016 Conference of Taiwanese Society for Reproductive Medicine

2015

PGT-A

NGS-based PGS is superior to array CGH-PGS in comprehensive aneuploidy screening of human blastocysts from patients undergoing IVF treatment.

2015 Conference of Taiwanese Society for Reproductive Medicine

2014

NIPT

Noninvasive Prenatal Testing for Whole Fetal Chromosomal Aneuploidies: A Multicenter Prospective Cohort Trial in Taiwan.

Fetal Diagn Ther. 2014;35(1):13-17. doi:10.1159/000355407

2011

SMA

Carrier Screening for Spinal Muscular Atrophy (SMA) in 107,611 Pregnant Women during the Period 2005–2009: A Prospective Population-Based Cohort Study.

PLoS One. 2011;6(2):e17067. Published 2011 Feb 25. doi:10.1371/journal.pone.0017067