Publications:

Massively parallel sequencing uncovered disease-associated variant spectra of glucose-6-phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women.

Molecular Genetics & Genomic Medicine

Nguyen, Tat-Thanh TT; Le, Quang-Thanh QT; Hoang, Diem-Tuyet Thi DT; Du Nguyen, Huu H; Ha, Thi Minh Thi TMT; Nguyen, My-Nhi Ba MB; Ta, Thanh-Thuy Thi TT; Tran, Nhat Thang NT; Trinh, Thu Huong Nhat THN; Doan, Kim Phuong Thi KPT; Lam, Duc Tam DT; Tran, Son Tra Thi STT; Nguyen, Thanh Xuan TX; Le, Hong-Thinh HT; Ha, Van Tuan VT; Nguyen, Manh Hoan MH; Le, Ba-Liem Kim BK; Duong, My Linh ML; Pham, Trung Ha TH; Tran, Anh Tuan AT; Phan, Xuan Lan Thi XLT; Huynh, Thanh Liem TL; Nguyen, Lan-Phuong Thi LT; Vo, Thanh Binh TB; Le, Duy-Khang Nguyen DN; Tran, Ngoc Nhu Thi NNT; Tran, Quynh Nhu Thi QNT; Van, Yen-Linh Thi YT; Huynh, Bich-Ngoc Thi BT; Nguyen, Thanh-Phương Thi TT; Dao, Trang Thi TT; Nguyen, Lan Phuong Thi LPT; Vo, Truong-Giang TG; Do, Thanh-Thuy Thi TT; Truong, Dinh-Kiet DK; Tang, Hung Sang HS; Phan, Minh-Duy MD; Nguyen, Hoai-Nghia HN; Giang, Hoa H

Publication Date: 2022-07

Variant appearance in text: PAH: 618C>A; Tyr206Ter

PubMed Link: 35502621

Variant Present in the following documents:

• Main text
• MGG3-10-e1959.pdf

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: PAH: 618C>A

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

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Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.

Scientific Reports

Li, Nana N; Jia, Haitao H; Liu, Zhen Z; Tao, Jing J; Chen, Song S; Li, Xiaohong X; Deng, Ying Y; Jin, Xi X; Song, Jiaping J; Zhang, Liangtao L; Liang, Yu Y; Wang, Wei W; Zhu, Jun J

Publication Date: 2015-10-27

Variant appearance in text: PAH: Y206*

PubMed Link: 26503515

Variant Present in the following documents:

• Main text
• srep15769.pdf

View BVdb publication page