Publications:

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: 535T>C

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

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Genome-wide patterns of genetic variation in two domestic chickens.

Genome Biology And Evolution

Fan, Wen-Lang WL; Ng, Chen Siang CS; Chen, Chih-Feng CF; Lu, Mei-Yeh Jade MY; Chen, Yu-Hsiang YH; Liu, Chia-Jung CJ; Wu, Siao-Man SM; Chen, Chih-Kuan CK; Chen, Jiun-Jie JJ; Mao, Chi-Tang CT; Lai, Yu-Ting YT; Lo, Wen-Sui WS; Chang, Wei-Hua WH; Li, Wen-Hsiung WH

Publication Date: 2013

Variant appearance in text: PAH: Y179H

PubMed Link: 23814129

Variant Present in the following documents:

• supp_evt097_Supplementary_table_S10.xlsx, sheet 2

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Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?

Jimd Reports

Sarkissian, Christineh N CN; Gamez, Alejandra A; Scott, Patrick P; Dauvillier, Jerome J; Dorenbaum, Alejandro A; Scriver, Charles R CR; Stevens, Raymond C RC

Publication Date: 2012

Variant appearance in text: PAH: Y179H

PubMed Link: 23430918

Variant Present in the following documents:

• Main text

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Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.

American Journal Of Human Genetics

Pey, Angel L AL; Stricher, Francois F; Serrano, Luis L; Martinez, Aurora A

Publication Date: 2007-11

Variant appearance in text: PAH: Y179H

PubMed Link: 17924342

Variant Present in the following documents:

• Main text

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