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: 763T>G

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

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: L255V

PubMed Link: 26503515

Variant Present in the following documents:

• Main text
• srep15769.pdf

View BVdb publication page

---

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: PAH: L255V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

---

The role of protein structural analysis in the next generation sequencing era.

Topics In Current Chemistry

Yue, Wyatt W WW; Froese, D Sean DS; Brennan, Paul E PE

Publication Date: 2014

Variant appearance in text: PAH: L255V

PubMed Link: 22610134

Variant Present in the following documents:

• Main text
• 978-3-642-39942-8_Chapter_326.pdf

View BVdb publication page

---

Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase.

Proteins

Shi, Zhen Z; Sellers, Jenn J; Moult, John J

Publication Date: 2012-01

Variant appearance in text: PAH: L255V

PubMed Link: 21953985

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: L255V

PubMed Link: 17924342

Variant Present in the following documents:

• Main text

View BVdb publication page

---