Publications:

---

Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China.

Molecular Genetics & Genomic Medicine

Men, Shuai S; Liu, Shuang S; Zheng, Qin Q; Yang, Shuting S; Mao, Huafen H; Wang, Zhiwei Z; Gu, Ying Y; Tang, Xinxin X; Wang, Leilei L

Publication Date: 2023-02-14

Variant appearance in text: PTS: T106M

PubMed Link: 36787440

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Mutation spectrum of PTS gene in patients with tetrahydrobiopterin deficiency from jiangxi province.

Frontiers In Genetics

Xie, Kang K; Zeng, Baitao B; Zhang, Liuyang L; Chen, Shaohong S; Zou, Yongyi Y; Yuan, Huizhen H; Huang, Shuhui S; Wang, Feng F; Lu, Qing Q; Liu, Yanqiu Y; Yang, Bicheng B

Publication Date: 2022

Variant appearance in text: PTS: 317C>T

PubMed Link: 36583021

Variant Present in the following documents:

• Main text
• fgene-13-1077729.pdf

View BVdb publication page

---

Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy.

Endocrinology, Diabetes & Metabolism

Rovelli, Valentina V; Cefalo, Graziella G; Ercoli, Vittoria V; Zuvadelli, Juri J; Olivia, Turri T; Graziani, Daniela D; Luisella, Alberti A; Bassi, Davide D; Re Dionigi, Alice A; Selmi, Raed R; Paci, Sabrina S; Salvatici, Elisabetta E; Banderali, Giuseppe G

Publication Date: 2022-12-19

Variant appearance in text: PTS: Thr106Met

PubMed Link: 36537053

Variant Present in the following documents:

• Main text
• EDM2-6-e396.pdf

View BVdb publication page

---

Genetic evaluation of hyperphenylalaninemia patients with tetrahydrobiopterin deficiency in Iranian population: Identification of four novel disease-causing variants.

Molecular Genetics & Genomic Medicine

Sadat Fatemi, Seyedeh Helia SH; Eshraghi, Peyman P; Ghanei, Mahmoud M; Hamzehloei, Tayebeh T

Publication Date: 2022-11-16

Variant appearance in text: PTS: 317C>T

PubMed Link: 36382472

Variant Present in the following documents:

• Main text
• MGG3-10-e2081.pdf

View BVdb publication page

---

Identification and molecular analysis of 11 cases of the PTS gene variants associated with tetrahydrobiopterin deficiency.

Frontiers In Genetics

Li, Lulu L; Yang, Haihe H; Zhao, Jinqi J; Yang, Nan N; Gong, Lifei L; Tang, Yue Y; Kong, Yuanyuan Y

Publication Date: 2022

Variant appearance in text: PTS: 317C>T

PubMed Link: 36212127

Variant Present in the following documents:

• Main text
• fgene-13-919209.pdf

View BVdb publication page

---

Genetic etiology and clinical challenges of phenylketonuria.

Human Genomics

Elhawary, Nasser A NA; AlJahdali, Imad A IA; Abumansour, Iman S IS; Elhawary, Ezzeldin N EN; Gaboon, Nagwa N; Dandini, Mohammed M; Madkhali, Abdulelah A; Alosaimi, Wafaa W; Alzahrani, Abdulmajeed A; Aljohani, Fawzia F; Melibary, Ehab M EM; Kensara, Osama A OA

Publication Date: 2022-07-19

Variant appearance in text: PTPS: Thr106Met

PubMed Link: 35854334

Variant Present in the following documents:

• Main text
• 40246_2022_Article_398.pdf

View BVdb publication page

---

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: PTS: 317C>T

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1
• 13023_2022_Article_2231.pdf

View BVdb publication page

---

A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.

Npj Genomic Medicine

Hu, Ping P; Tan, Jianxin J; Yu, Feng F; Shao, Binbin B; Zhang, Fang F; Zhang, Jingjing J; Lin, Yingchun Y; Tao, Tao T; Jiang, Lili L; Jiang, Zhengwen Z; Xu, Zhengfeng Z

Publication Date: 2022-01-25

Variant appearance in text: PTS: 317C>T

PubMed Link: 35079019

Variant Present in the following documents:

• 41525_2021_280_MOESM1_ESM.pdf

View BVdb publication page

---

BH4-deficient hyperphenylalaninemia in Russia.

Plos One

Gundorova, Polina P; Kuznetcova, Irina A IA; Baydakova, Galina V GV; Stepanova, Anna A AA; Itkis, Yulia S YS; Kakaulina, Victoria S VS; Alferova, Irina P IP; Lyazina, Lidya V LV; Andreeva, Lilya P LP; Kanivets, Ilya I; Zakharova, Ekaterina Y EY; Kutsev, Sergey I SI; Polyakov, Aleksander V AV

Publication Date: 2021

Variant appearance in text: PTS: 317C>T; Thr106Met

PubMed Link: 33822819

Variant Present in the following documents:

• Main text
• pone.0249608.pdf

View BVdb publication page

---

Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth.

Molecular Genetics And Metabolism

Manzoni, Francesca F; Salvatici, Elisabetta E; Burlina, Alberto A; Andrews, Ashley A; Pasquali, Marzia M; Longo, Nicola N

Publication Date: 2020-12

Variant appearance in text: PTPS: 317C>T

PubMed Link: 33234470

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: PTS: 317C>T; Thr106Met; rs200712908

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

---

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications

Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H

Publication Date: 2019-09-12

Variant appearance in text: rs200712908

PubMed Link: 31515488

Variant Present in the following documents:

• 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1
• 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

---

A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: PTS: 317C>T; Thr106Met

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

---

Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.

European Journal Of Human Genetics : Ejhg

Zhao, Sumin S; Xiang, Jiale J; Fan, Chunna C; Asan, ; Shang, Xuan X; Zhang, Xinhua X; Chen, Yan Y; Zhu, Baosheng B; Cai, Wangwei W; Chen, Shaoke S; Cai, Ren R; Guo, Xiaoling X; Zhang, Chonglin C; Zhou, Yuqiu Y; Huang, Shuodan S; Liu, Yanhui Y; Chen, Biyan B; Yan, Shanhuo S; Chen, Yajun Y; Ding, Hongmei H; Guo, Fengyu F; Wang, Yaoshen Y; Zhong, Wenwei W; Zhu, Yaping Y; Wang, Yaling Y; Chen, Chao C; Li, Yun Y; Huang, Hui H; Mao, Mao M; Yin, Ye Y; Wang, Jian J; Yang, Huanming H; Xu, Xiangmin X; Sun, Jun J; Peng, Zhiyu Z

Publication Date: 2019-02

Variant appearance in text: PTS: 317C>T

PubMed Link: 30275481

Variant Present in the following documents:

• 41431_2018_253_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

---

Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients.

Jimd Reports

Khatami, Shohreh S; Dehnabeh, Soghra Rouhi SR; Zeinali, Sirous S; Thöny, Beat B; Alaei, Mohammadreza M; Salehpour, Shadab S; Setoodeh, Aria A; Rohani, Farzaneh F; Hajivalizadeh, Fatemeh F; Samavat, Ashraf A

Publication Date: 2017

Variant appearance in text: PTPS: 317C>T

PubMed Link: 27246466

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: PTPS: T106M

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: PTS: T106M

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

---