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: 969+1G>A

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

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Clinical and Genetic Characteristics of Patients with Mild Hyperphenylalaninemia Identified by Newborn Screening Program in Japan.

International Journal Of Neonatal Screening

Odagiri, Shino S; Kabata, Daijiro D; Tomita, Shogo S; Kudo, Satoshi S; Sakaguchi, Tomoko T; Nakano, Noriko N; Yamamoto, Kouji K; Shintaku, Haruo H; Hamazaki, Takashi T

Publication Date: 2021-03-18

Variant appearance in text: PAH: 969+1G>A

PubMed Link: 33803550

Variant Present in the following documents:

• Main text
• IJNS-07-00017.pdf

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Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China.

Scientific Reports

Chen, Ting T; Xu, Weize W; Wu, Dingwen D; Han, Jiamin J; Zhu, Ling L; Tong, Fan F; Yang, Rulai R; Zhao, Zhengyan Z; Jiang, Pingping P; Shu, Qiang Q

Publication Date: 2018-11-20

Variant appearance in text: PAH: 969+1G>A

PubMed Link: 30459323

Variant Present in the following documents:

• 41598_2018_35373_MOESM1_ESM.pdf

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Mutations of the phenylalanine hydroxylase gene in Iranian patients with phenylketonuria.

Springerplus

Biglari, Alireza A; Saffari, Fatemeh F; Rashvand, Zahra Z; Alizadeh, Safarali S; Najafipour, Reza R; Sahmani, Mehdi M

Publication Date: 2015

Variant appearance in text: PAH: 969+1G>A

PubMed Link: 26413448

Variant Present in the following documents:

• Main text
• 40064_2015_Article_1309.pdf

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