Publications:

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The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China.

Human Genomics

Zhang, Chuan C; Zhang, Pei P; Yan, Yousheng Y; Zhou, Bingbo B; Wang, Yupei Y; Tian, Xinyuan X; Hao, Shengju S; Ma, Panpan P; Zheng, Lei L; Zhang, Qinghua Q; Hui, Ling L; Wang, Yan Y; Cao, Zongfu Z; Ma, Xu X

Publication Date: 2023-04-25

Variant appearance in text: PAH: 611A>G

PubMed Link: 37098607

Variant Present in the following documents:

• 40246_2023_Article_475.pdf

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Clinical application value of expanded carrier screening in the population of childbearing age.

European Journal Of Medical Research

Fang, Yuqin Y; Li, Jingran J; Zhang, Miaomiao M; Cheng, Yuan Y; Wang, Chaohong C; Zhu, Jiansheng J

Publication Date: 2023-04-08

Variant appearance in text: PAH: Y204C

PubMed Link: 37031186

Variant Present in the following documents:

• Main text
• 40001_2023_Article_1112.pdf

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Allelic phenotype prediction of phenylketonuria based on the machine learning method.

Human Genomics

Fang, Yang Y; Gao, Jinshuang J; Guo, Yaqing Y; Li, Xiaole X; Yuan, Enwu E; Yuan, Erfeng E; Song, Liying L; Shi, Qianqian Q; Yu, Haiyang H; Zhao, Dehua D; Zhang, Linlin L

Publication Date: 2023-03-31

Variant appearance in text: PAH: 611A>G

PubMed Link: 37004080

Variant Present in the following documents:

• Main text
• 40246_2023_Article_481.pdf

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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: PAH: Y204C

PubMed Link: 36787440

Variant Present in the following documents:

• Main text
• MGG3-11-e2152.pdf

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Expanded newborn screening for inherited metabolic disorders by tandem mass spectrometry in a northern Chinese population.

Frontiers In Genetics

Zhang, Hong H; Wang, Yanyun Y; Qiu, Yali Y; Zhang, Chao C

Publication Date: 2022

Variant appearance in text: PAH: 611A>G

PubMed Link: 36246604

Variant Present in the following documents:

• Main text
• fgene-13-801447.pdf

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Characterization of phenylalanine hydroxylase gene variants and analysis of genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China.

Molecular Biology Reports

Zhou, Jinfu J; Zeng, Yinglin Y; Qiu, Xiaolong X; Lin, Qingying Q; Chen, Weifeng W; Luo, Jinying J; Xu, Liangpu L

Publication Date: 2022-11

Variant appearance in text: PAH: 611A>G

PubMed Link: 36104584

Variant Present in the following documents:

• 11033_2022_Article_7579.pdf

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A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China.

Clinical And Translational Medicine

Jian, Min M; Wang, Xiaohong X; Sui, Yuanyuan Y; Fang, Mingyan M; Feng, Chenchen C; Huang, Yingping Y; Liu, Chunhua C; Guo, Ruidong R; Guan, Yuanning Y; Gao, Yuxiao Y; Wang, Zhiwei Z; Li, Shuli S; Cheng, Bochen B; Sun, Lina L; Cui, Fenghua F; Guo, Jia J; Zhan, Ying Y; Zhang, Guohong G; Zheng, Ling L; Su, Fengxia F; Xue, Wei W; Qian, Puyi P; Gao, Shaobo S; Chen, Jiayu J; Guan, Lingyao L; Lu, Haorong H; Kristiansen, Karsten K; Jin, Xin X; Chen, Fang F; Zhao, Yuhuan Y; Hammarström, Lennart L; Jiang, Xiaojing X; Liu, Junnian J; Gao, Ya Y

Publication Date: 2022-06

Variant appearance in text: PAH: Y204C

PubMed Link: 35665479

Variant Present in the following documents:

• Main text
• CTM2-12-e843-s002.xlsx, sheet 7
• CTM2-12-e843.pdf
• CTM2-12-e843-s002.xlsx, sheet 10
• CTM2-12-e843-s002.xlsx, sheet 6

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Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Nature Communications

Cong, Pei-Kuan PK; Bai, Wei-Yang WY; Li, Jin-Chen JC; Yang, Meng-Yuan MY; Khederzadeh, Saber S; Gai, Si-Rui SR; Li, Nan N; Liu, Yu-Heng YH; Yu, Shi-Hui SH; Zhao, Wei-Wei WW; Liu, Jun-Quan JQ; Sun, Yi Y; Zhu, Xiao-Wei XW; Zhao, Pian-Pian PP; Xia, Jiang-Wei JW; Guan, Peng-Lin PL; Qian, Yu Y; Tao, Jian-Guo JG; Xu, Lin L; Tian, Geng G; Wang, Ping-Yu PY; Xie, Shu-Yang SY; Qiu, Mo-Chang MC; Liu, Ke-Qi KQ; Tang, Bei-Sha BS; Zheng, Hou-Feng HF

Publication Date: 2022-05-26

Variant appearance in text: PAH: 611A>G; Y204C; rs62514927

PubMed Link: 35618720

Variant Present in the following documents:

• 41467_2022_30526_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of Germline Mutations in Upper Tract Urothelial Carcinoma With Suspected Lynch Syndrome.

Frontiers In Oncology

Guan, Bao B; Wang, Jie J; Li, Xuesong X; Lin, Lin L; Fang, Dong D; Kong, Wenwen W; Tian, Chuangyu C; Li, Juan J; Yang, Kunlin K; Han, Guanpeng G; Wu, Yucai Y; He, Yuhui Y; Peng, Yiji Y; Yu, Yanfei Y; He, Qun Q; He, Shiming S; Gong, Yanqing Y; Zhou, Liqun L; Tang, Qi Q

Publication Date: 2022

Variant appearance in text: PAH: 611A>G

PubMed Link: 35372080

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

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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: 611A>G

PubMed Link: 35193651

Variant Present in the following documents:

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

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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: 611A>G

PubMed Link: 35079019

Variant Present in the following documents:

• 41525_2021_280_MOESM1_ESM.pdf

View BVdb publication page

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Clinical application of non-invasive prenatal diagnosis of phenylketonuria based on haplotypes via paired-end molecular tags and weighting algorithm.

Bmc Medical Genomics

Peng, Dai D; Ganye, Zhao Z; Gege, Sun S; Yanjie, Xia X; Ning, Liu L; Xiangdong, Kong K

Publication Date: 2021-12-17

Variant appearance in text: PAH: 611A>G; Tyr204Cys

PubMed Link: 34920737

Variant Present in the following documents:

• Main text
• 12920_2021_Article_1141.pdf

View BVdb publication page

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Clinical application of non-invasive prenatal diagnosis of phenylketonuria based on haplotypes via paired-end molecular tags and weighting algorithm.

Bmc Medical Genomics

Peng, Dai D; Ganye, Zhao Z; Gege, Sun S; Yanjie, Xia X; Ning, Liu L; Xiangdong, Kong K

Publication Date: 2021-12-17

Variant appearance in text: PAH: 611A>G; Tyr204Cys

PubMed Link: 34920737

Variant Present in the following documents:

• Main text
• 12920_2021_Article_1141.pdf

View BVdb publication page

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Follow-up of two newborns with c.158G>A (p.Arg53His) mutation in gene and assessment of the site function.

Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal Of Zhejiang University. Medical Sciences

Wang, Jie J; Zhu, Bo B; Zhang, Lichun L; Zhao, Yitong Y; Wang, Xiaohua X; Jia, Yueqi Y

Publication Date: 2021-08-25

Variant appearance in text: PAH: 611A>G; Tyr204Cys

PubMed Link: 34704413

Variant Present in the following documents:

• Main text

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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: 611A>G

PubMed Link: 34627256

Variant Present in the following documents:

• Main text
• 12920_2021_Article_1091.pdf

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Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population.

Frontiers In Genetics

Tan, Jianqiang J; Chen, Dayu D; Chang, Rongni R; Pan, Lizhen L; Yang, Jinling J; Yuan, Dejian D; Huang, Lihua L; Yan, Tizhen T; Ning, Haiping H; Wei, Jiangyan J; Cai, Ren R

Publication Date: 2021

Variant appearance in text: PAH: 611A>G; Tyr204Cys

PubMed Link: 34394177

Variant Present in the following documents:

• Main text
• fgene-12-631688.pdf

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Molecular diagnosis of phenylketonuria in 157 Chinese families and the results of prenatal diagnosis in these families.

Chinese Medical Journal

Xiao, Yang Y; Gu, Qiang Q; Wu, Hai-Rong HR; Wang, Song-Tao ST; Pei, Pei P; Zheng, Xue-Fei XF; Pan, Hong H; Ma, Yi-Nan YN

Publication Date: 2021-05-19

Variant appearance in text: PAH: 611A>G

PubMed Link: 34039861

Variant Present in the following documents:

• Main text
• cm9-134-1626-s001.pdf
• cm9-134-1626.pdf

View BVdb publication page

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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: 611A>G

PubMed Link: 33803550

Variant Present in the following documents:

• Main text
• IJNS-07-00017.pdf

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Development of a mutation hotspot detection kit for the phenylalanine hydroxylase gene by ARMS-PCR combined with fluorescent probe technology.

Bioscience Reports

Qiang, Rong R; Wang, Lin L; He, JinHua J; Xu, Wei Jie WJ; Li, Wei W; Cai, Na N; Wang, Xiao Bin XB; Zhang, RuiXue R; Zhang, Li Ping LP; Ma, Xiao Ping XP; Wei, Chen C; Song, ChengRong C; Yu, WenWen W; Wang, Xiang X; Li, Xu X

Publication Date: 2021-02-26

Variant appearance in text: PAH: 611A>G; Y204C

PubMed Link: 33564846

Variant Present in the following documents:

• Main text
• bsr-41-bsr20201660.pdf

View BVdb publication page

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Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population.

Scientific Reports

Zhang, Ruixue R; Qiang, Rong R; Song, Chengrong C; Ma, Xiaoping X; Zhang, Yan Y; Li, Fengxia F; Wang, Rui R; Yu, Wenwen W; Feng, Mei M; Yang, Lihui L; Wang, Xiaobin X; Cai, Na N

Publication Date: 2021-01-29

Variant appearance in text: PAH: 611A>G; Tyr204Cys

PubMed Link: 33514801

Variant Present in the following documents:

• Main text
• 41598_2021_Article_81897.pdf

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: PAH: 611A>G; Tyr204Cys

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

View BVdb publication page

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The Genetic Landscape and Epidemiology of Phenylketonuria.

American Journal Of Human Genetics

Hillert, Alicia A; Anikster, Yair Y; Belanger-Quintana, Amaya A; Burlina, Alberto A; Burton, Barbara K BK; Carducci, Carla C; Chiesa, Ana E AE; Christodoulou, John J; Đorđević, Maja M; Desviat, Lourdes R LR; Eliyahu, Aviva A; Evers, Roeland A F RAF; Fajkusova, Lena L; Feillet, François F; Bonfim-Freitas, Pedro E PE; Giżewska, Maria M; Gundorova, Polina P; Karall, Daniela D; Kneller, Katya K; Kutsev, Sergey I SI; Leuzzi, Vincenzo V; Levy, Harvey L HL; Lichter-Konecki, Uta U; Muntau, Ania C AC; Namour, Fares F; Oltarzewski, Mariusz M; Paras, Andrea A; Perez, Belen B; Polak, Emil E; Polyakov, Alexander V AV; Porta, Francesco F; Rohrbach, Marianne M; Scholl-Bürgi, Sabine S; Spécola, Norma N; Stojiljković, Maja M; Shen, Nan N; Santana-da Silva, Luiz C LC; Skouma, Anastasia A; van Spronsen, Francjan F; Stoppioni, Vera V; Thöny, Beat B; Trefz, Friedrich K FK; Vockley, Jerry J; Yu, Youngguo Y; Zschocke, Johannes J; Hoffmann, Georg F GF; Garbade, Sven F SF; Blau, Nenad N

Publication Date: 2020-08-06

Variant appearance in text: PAH: 611A>G; Tyr204Cys

PubMed Link: 32668217

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 611A>G; rs62514927

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Screening of PAH Common Mutations in Chinese Phenylketonuria Patients Using iPLEX MALDI-TOF MS.

Acs Omega

Yan, Yousheng Y; Jin, Xiaohua X; Wang, Xing X; Zhang, Chuan C; Zhang, Qinhua Q; Zheng, Lei L; Feng, Xuan X; Hao, Shengju S; Gao, Huafang H; Ma, Xu X

Publication Date: 2020-02-04

Variant appearance in text: PAH: 611A>G

PubMed Link: 32039316

Variant Present in the following documents:

• Main text

View BVdb publication page

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A 7-Year Report of Spectrum of Inborn Errors of Metabolism on Full-Term and Premature Infants in a Chinese Neonatal Intensive Care Unit.

Frontiers In Genetics

Zhang, Wanqiao W; Yang, Yao Y; Peng, Wei W; Chang, Juan J; Mei, Yabo Y; Yan, Lei L; Chen, Yuhan Y; Wei, Xiujuan X; Liu, Yabin Y; Wang, Yan Y; Feng, Zhichun Z

Publication Date: 2019

Variant appearance in text: PAH: 611A>G; Y204C

PubMed Link: 31998365

Variant Present in the following documents:

• Main text
• fgene-10-01302.pdf

View BVdb publication page

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Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT

Publication Date: 2020-02-11

Variant appearance in text: PAH: 611A>G; Tyr204Cys

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

View BVdb publication page

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Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.

Frontiers In Genetics

Wang, Ting T; Ma, Jun J; Zhang, Qin Q; Gao, Ang A; Wang, Qi Q; Li, Hong H; Xiang, Jingjing J; Wang, Benjing B

Publication Date: 2019

Variant appearance in text: PAH: 611A>G; Y204C

PubMed Link: 31737040

Variant Present in the following documents:

• Main text
• fgene-10-01052.pdf

View BVdb publication page

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Rapid detection of PAH gene mutations in Chinese people.

Bmc Medical Genetics

Zhang, Xin X; Chen, Huan-Xin HX; Li, Chuan C; Zhang, Gui G; Liao, Sheng-Yun SY; Peng, Zhuo-Chun ZC; Lai, Xiao-Ping XP; Wang, Ling-Li LL

Publication Date: 2019-08-05

Variant appearance in text:

PubMed Link: 31382905

Variant Present in the following documents:

• Main text
• 12881_2019_Article_860.pdf

View BVdb publication page

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The molecular epidemiology of hyperphenylalaninemia in Uygur population: incidence from newborn screening and mutational spectra.

Annals Of Translational Medicine

Su, Yajie Y; Wang, Huijun H; Rejiafu, Nuerya N; Wu, Bingbing B; Jiang, Haili H; Chen, Hongbo H; A, Xian X; Qian, Yanyan Y; Li, Mingzhu M; Lu, Yulan Y; Ren, Yan Y; Li, Long L; Zhou, Wenhao W

Publication Date: 2019-06

Variant appearance in text: PAH: 611A>G

PubMed Link: 31355225

Variant Present in the following documents:

• Main text

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Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.

Scientific Reports

Marín, Òscar Ò; Aguirre, Josu J; de la Cruz, Xavier X

Publication Date: 2019-07-02

Variant appearance in text: PAH: Y204C

PubMed Link: 31267011

Variant Present in the following documents:

• 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: 611A>G; Tyr204Cys

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: PAH: 611A>G; Tyr204Cys

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Pilot study of a novel multi-functional noninvasive prenatal test on fetus aneuploidy, copy number variation, and single-gene disorder screening.

Molecular Genetics & Genomic Medicine

Luo, Yuqin Y; Jia, Bei B; Yan, Kai K; Liu, Siping S; Song, Xiaojie X; Chen, Mingfa M; Jin, Fan F; Du, Yang Y; Wang, Juan J; Hong, Yan Y; Cao, Sha S; Li, Dawei D; Dong, Minyue M

Publication Date: 2019-04

Variant appearance in text: PAH: Y204C

PubMed Link: 30767419

Variant Present in the following documents:

• Main text
• MGG3-7-na.pdf

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A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.

Bmc Medical Genetics

Wang, Wenjie W; Yang, Jianping J; Xue, Jinjie J; Mu, Wenjuan W; Zhang, Xiaogang X; Wu, Wang W; Xu, Mengnan M; Gong, Yuyan Y; Liu, Yiqian Y; Zhang, Yu Y; Xie, Xiaobing X; Gu, Weiyue W; Bai, Jigeng J; Cram, David S DS

Publication Date: 2019-01-06

Variant appearance in text: PAH: 611A>G; Y204C

PubMed Link: 30612563

Variant Present in the following documents:

• Main text

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: Y204C

PubMed Link: 30459323

Variant Present in the following documents:

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

View BVdb publication page

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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: PAH: 611A>G

PubMed Link: 30275481

Variant Present in the following documents:

• 41431_2018_253_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population.

Frontiers In Genetics

Guo, Kejian K; Zhou, Xuan X; Chen, Xigui X; Wu, Yili Y; Liu, Chuanxin C; Kong, Qingsheng Q

Publication Date: 2018

Variant appearance in text: PAH: Y204C

PubMed Link: 29731766

Variant Present in the following documents:

• Main text
• fgene-09-00122.pdf

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Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site.

Plos Genetics

Martínez-Pizarro, Ainhoa A; Dembic, Maja M; Pérez, Belén B; Andresen, Brage S BS; Desviat, Lourdes R LR

Publication Date: 2018-04

Variant appearance in text: PAH: Y204C

PubMed Link: 29684050

Variant Present in the following documents:

• pgen.1007360.pdf

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Subacute onset leukodystrophy and visual-spatial disorders revealing phenylketonuria combined with homocysteinmia in adulthood: A case report.

Medicine

Wang, Chunchen C; Li, Jieying J

Publication Date: 2018-02

Variant appearance in text: PAH: 611A>G; Y204C

PubMed Link: 29465562

Variant Present in the following documents:

• Main text
• medi-97-e9801.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: 611A>G

PubMed Link: 29317692

Variant Present in the following documents:

• Main text

View BVdb publication page

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