Publications:

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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: PAH: 992T>C

PubMed Link: 35079019

Variant Present in the following documents:

• 41525_2021_280_MOESM1_ESM.pdf

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Noninvasive prenatal diagnosis of monogenic disorders based on direct haplotype phasing through targeted linked-read sequencing.

Bmc Medical Genomics

Chen, Chao C; Chen, Min M; Zhu, Yaping Y; Jiang, Lu L; Li, Jia J; Wang, Yaoshen Y; Lu, Zhe Z; Guo, Fengyu F; Wang, Hairong H; Peng, Zhiyu Z; Yang, Yun Y; Sun, Jun J

Publication Date: 2021-10-09

Variant appearance in text: PAH: 992T>C

PubMed Link: 34627256

Variant Present in the following documents:

• Main text
• 12920_2021_Article_1091.pdf

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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: PAH: 992T>C; Phe331Ser

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic.

International Journal Of Molecular Sciences

Zinchenko, Rena A RA; Makaov, Amin Kh AK; Marakhonov, Andrey V AV; Galkina, Varvara A VA; Kadyshev, Vitaly V VV; El'chinova, Galina I GI; Dadali, Elena L EL; Mikhailova, Lyudmila K LK; Petrova, Nika V NV; Petrina, Nina E NE; Vasilyeva, Tatyana A TA; Gundorova, Polina P; Polyakov, Alexander V AV; Alexandrova, Oksana Y OY; Kutsev, Sergey I SI; Ginter, Eugeny K EK

Publication Date: 2020-01-03

Variant appearance in text: PAH: 992T>C; F331S

PubMed Link: 31947737

Variant Present in the following documents:

• Main text
• ijms-21-00325.pdf

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The molecular landscape of ETMR at diagnosis and relapse.

Nature

Lambo, Sander S; Gröbner, Susanne N SN; Rausch, Tobias T; Waszak, Sebastian M SM; Schmidt, Christin C; Gorthi, Aparna A; Romero, July Carolina JC; Mauermann, Monika M; Brabetz, Sebastian S; Krausert, Sonja S; Buchhalter, Ivo I; Koster, Jan J; Zwijnenburg, Danny A DA; Sill, Martin M; Hübner, Jens-Martin JM; Mack, Norman N; Schwalm, Benjamin B; Ryzhova, Marina M; Hovestadt, Volker V; Papillon-Cavanagh, Simon S; Chan, Jennifer A JA; Landgraf, Pablo P; Ho, Ben B; Milde, Till T; Witt, Olaf O; Ecker, Jonas J; Sahm, Felix F; Sumerauer, David D; Ellison, David W DW; Orr, Brent A BA; Darabi, Anna A; Haberler, Christine C; Figarella-Branger, Dominique D; Wesseling, Pieter P; Schittenhelm, Jens J; Remke, Marc M; Taylor, Michael D MD; Gil-da-Costa, Maria J MJ; Łastowska, Maria M; Grajkowska, Wiesława W; Hasselblatt, Martin M; Hauser, Peter P; Pietsch, Torsten T; Uro-Coste, Emmanuelle E; Bourdeaut, Franck F; Masliah-Planchon, Julien J; Rigau, Valérie V; Alexandrescu, Sanda S; Wolf, Stephan S; Li, Xiao-Nan XN; Schüller, Ulrich U; Snuderl, Matija M; Karajannis, Matthias A MA; Giangaspero, Felice F; Jabado, Nada N; von Deimling, Andreas A; Jones, David T W DTW; Korbel, Jan O JO; von Hoff, Katja K; Lichter, Peter P; Huang, Annie A; Bishop, Alexander J R AJR; Pfister, Stefan M SM; Korshunov, Andrey A; Kool, Marcel M

Publication Date: 2019-12

Variant appearance in text: PAH: F331S

PubMed Link: 31802000

Variant Present in the following documents:

• NIHMS1541318-supplement-Supplementary_Table_6.xlsx, sheet 2

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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: PAH: 992T>C; Phe331Ser

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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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: 992T>C; F331S

PubMed Link: 30459323

Variant Present in the following documents:

• Main text
• 41598_2018_Article_35373.pdf
• 41598_2018_35373_MOESM1_ESM.pdf

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Molecular-genetic causes for the high frequency of phenylketonuria in the population from the North Caucasus.

Plos One

Gundorova, Polina P; Zinchenko, Rena A RA; Kuznetsova, Irina A IA; Bliznetz, Elena A EA; Stepanova, Anna A AA; Polyakov, Aleksander V AV

Publication Date: 2018

Variant appearance in text: PAH: 992T>C; Phe331Ser

PubMed Link: 30067850

Variant Present in the following documents:

• Main text

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Analysis of the genotype-phenotype correlation in patients with phenylketonuria in mainland China.

Scientific Reports

Li, Nana N; He, Chunhua C; Li, Jing J; Tao, Jing J; Liu, Zhen Z; Zhang, Chunyan C; Yuan, Yuan Y; Jiang, Hui H; Zhu, Jun J; Deng, Ying Y; Guo, Yixiong Y; Li, Qintong Q; Yu, Ping P; Wang, Yanping Y

Publication Date: 2018-07-26

Variant appearance in text: PAH: F331S

PubMed Link: 30050108

Variant Present in the following documents:

• Main text
• 41598_2018_Article_29640.pdf

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Haplotype-based Noninvasive Prenatal Diagnosis of Hyperphenylalaninemia through Targeted Sequencing of Maternal Plasma.

Scientific Reports

Ye, Jun J; Chen, Chao C; Yuan, Yuan Y; Han, Lianshu L; Wang, Yaoshen Y; Qiu, Wenjuan W; Zhang, Huiwen H; Asan, ; Gu, Xuefan X

Publication Date: 2018-01-09

Variant appearance in text: PAH: 992T>C

PubMed Link: 29317692

Variant Present in the following documents:

• Main text

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Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.

Bmc Medical Genetics

Liu, Ning N; Huang, Qiuying Q; Li, Qingge Q; Zhao, Dehua D; Li, Xiaole X; Cui, Lixia L; Bai, Ying Y; Feng, Yin Y; Kong, Xiangdong X

Publication Date: 2018-01-09

Variant appearance in text: PAH: 992T>C; Phe331Ser

PubMed Link: 29316886

Variant Present in the following documents:

• 12881_2017_Article_516.pdf

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Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.

Bmc Medical Genetics

Liu, Ning N; Huang, Qiuying Q; Li, Qingge Q; Zhao, Dehua D; Li, Xiaole X; Cui, Lixia L; Bai, Ying Y; Feng, Yin Y; Kong, Xiangdong X

Publication Date: 2017-10-05

Variant appearance in text: PAH: 992T>C

PubMed Link: 28982351

Variant Present in the following documents:

• 12881_2017_Article_467.pdf

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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: F331S

PubMed Link: 26503515

Variant Present in the following documents:

• Main text

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Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria.

Pediatric Research

Tao, Jing J; Li, Nana N; Jia, Haitao H; Liu, Zhen Z; Li, Xiaohong X; Song, Jiaping J; Deng, Ying Y; Jin, Xi X; Zhu, Jun J

Publication Date: 2015-12

Variant appearance in text: PAH: 992T>C; F331S

PubMed Link: 26322415

Variant Present in the following documents:

• Main text
• pr2015167a.pdf

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Influence of PAH Genotype on Sapropterin Response in PKU: Results of a Single-Center Cohort Study.

Jimd Reports

Leuders, Sarah S; Wolfgart, Eva E; Ott, Torsten T; du Moulin, Marcel M; van Teeffelen-Heithoff, Agnes A; Vogelpohl, Lydia L; Och, Ulrike U; Marquardt, Thorsten T; Weglage, Josef J; Feldmann, Reinhold R; Rutsch, Frank F

Publication Date: 2014

Variant appearance in text: PAH: F331S

PubMed Link: 24190797

Variant Present in the following documents:

• Main text

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