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: 721C>T

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: R241C

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: 721C>T

PubMed Link: 37004080

Variant Present in the following documents:

• Main text
• 40246_2023_Article_481.pdf

View BVdb publication page

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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: R241C

PubMed Link: 36787440

Variant Present in the following documents:

• Main text
• MGG3-11-e2152.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: Arg241Cys

PubMed Link: 36104584

Variant Present in the following documents:

• Main text
• 11033_2022_Article_7579.pdf

View BVdb publication page

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Deubiquitinase USP19 extends the residual enzymatic activity of phenylalanine hydroxylase variants.

Scientific Reports

Sarodaya, Neha N; Tyagi, Apoorvi A; Kim, Hyun-Jin HJ; Kang, Ju-Seop JS; Singh, Vijai V; Hong, Seok-Ho SH; Kim, Woo Jin WJ; Kim, Kye-Seong KS; Ramakrishna, Suresh S

Publication Date: 2022-08-20

Variant appearance in text: PAH: 721C>T; R241C

PubMed Link: 35987969

Variant Present in the following documents:

• Main text
• 41598_2022_Article_18656.pdf

View BVdb publication page

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Identification of phenylketonuria patient genotypes using single-gene full-length sequencing.

Human Genomics

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

Publication Date: 2022-07-22

Variant appearance in text: PAH: 721C>T; Arg241Cys

PubMed Link: 35869558

Variant Present in the following documents:

• Main text
• 40246_2022_Article_397.pdf

View BVdb publication page

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Application of the Artificial Intelligence Algorithm Model for Screening of Inborn Errors of Metabolism.

Frontiers In Pediatrics

Zhou, Muping M; Deng, Liyuan L; Huang, Yan Y; Xiao, Ying Y; Wen, Jun J; Liu, Na N; Zeng, Yingchao Y; Zhang, Hua H

Publication Date: 2022

Variant appearance in text: PAH: 721C>T

PubMed Link: 35664874

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 721C>T; R241C; rs76687508

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: 721C>T

PubMed Link: 35372080

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

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Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.

Npj Genomic Medicine

Chau, Jeffrey Fong Ting JFT; Yu, Mullin Ho Chung MHC; Chui, Martin Man Chun MMC; Yeung, Cyrus Chun Wing CCW; Kwok, Aaron Wing Cheung AWC; Zhuang, Xuehan X; Lee, Ryan R; Fung, Jasmine Lee Fong JLF; Lee, Mianne M; Mak, Christopher Chun Yu CCY; Ng, Nicole Ying Ting NYT; Chung, Claudia Ching Yan CCY; Chan, Marcus Chun Yin MCY; Tsang, Mandy Ho Yin MHY; Chan, Joshua Chun Ki JCK; Chan, Kelvin Yuen Kwong KYK; Kan, Anita Sik Yau ASY; Chung, Patrick Ho Yu PHY; Yang, Wanling W; Lee, So Lun SL; Chan, Godfrey Chi Fung GCF; Tam, Paul Kwong Hang PKH; Lau, Yu Lung YL; Yeung, Kit San KS; Chung, Brian Hon Yin BHY; Tang, Clara Sze Man CSM

Publication Date: 2022-03-21

Variant appearance in text: PAH: 721C>T; Arg241Cys; rs76687508

PubMed Link: 35314707

Variant Present in the following documents:

• 41525_2022_287_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.

Jimd Reports

Martín-Rivada, Álvaro Á; Palomino Pérez, Laura L; Ruiz-Sala, Pedro P; Navarrete, Rosa R; Cambra Conejero, Ana A; Quijada Fraile, Pilar P; Moráis López, Ana A; Belanger-Quintana, Amaya A; Martín-Hernández, Elena E; Bellusci, Marcello M; Cañedo Villaroya, Elvira E; Chumillas Calzada, Silvia S; García Silva, María Teresa MT; Bergua Martínez, Ana A; Stanescu, Sinziana S; Martínez-Pardo Casanova, Mercedes M; Ruano, Miguel L F MLF; Ugarte, Magdalena M; Pérez, Belén B; Pedrón-Giner, Consuelo C

Publication Date: 2022-03

Variant appearance in text: PAH: Arg241Cys

PubMed Link: 35281663

Variant Present in the following documents:

• Main text
• JMD2-63-146.pdf

View BVdb publication page

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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: 721C>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

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: PAH: R241C; rs76687508

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

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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: 721C>T

PubMed Link: 35079019

Variant Present in the following documents:

• Main text
• 41525_2021_Article_280.pdf
• 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: 721C>T; Arg241Cys

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: 721C>T; Arg241Cys

PubMed Link: 34920737

Variant Present in the following documents:

• Main text
• 12920_2021_Article_1141.pdf

View BVdb publication page

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An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations.

Genes

Vela-Amieva, Marcela M; Alcántara-Ortigoza, Miguel Angel MA; Ibarra-González, Isabel I; González-Del Angel, Ariadna A; Fernández-Hernández, Liliana L; Guillén-López, Sara S; López-Mejía, Lizbeth L; Carrillo-Nieto, Rosa Itzel RI; Belmont-Martínez, Leticia L; Fernández-Lainez, Cynthia C

Publication Date: 2021-10-23

Variant appearance in text: PAH: Arg241Cys

PubMed Link: 34828281

Variant Present in the following documents:

• Main text
• genes-12-01676.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: R241C

PubMed Link: 34704413

Variant Present in the following documents:

• Main text

View BVdb publication page

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Replacing the SpCas9 HNH domain by deaminases generates compact base editors with an alternative targeting scope.

Molecular Therapy. Nucleic Acids

Villiger, Lukas L; Schmidheini, Lukas L; Mathis, Nicolas N; Rothgangl, Tanja T; Marquart, Kim K; Schwank, Gerald G

Publication Date: 2021-12-03

Variant appearance in text: PAH: 721C>T; Arg241Cys

PubMed Link: 34631280

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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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: 721C>T

PubMed Link: 34627256

Variant Present in the following documents:

• Main text
• 12920_2021_Article_1091.pdf

View BVdb publication page

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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: 721C>T; Arg241Cys

PubMed Link: 34394177

Variant Present in the following documents:

• Main text
• fgene-12-631688.pdf

View BVdb publication page

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Sapropterin for phenylketonuria: A Japanese post-marketing surveillance study.

Pediatrics International : Official Journal Of The Japan Pediatric Society

Tamura, Mina M; Seki, Shizuka S; Kakurai, Yasuyuki Y; Chikada, Shuichi S; Wada, Kento K

Publication Date: 2022-01

Variant appearance in text: PAH: R241C

PubMed Link: 34331785

Variant Present in the following documents:

• Main text
• PED-64-0.pdf

View BVdb publication page

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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: 721C>T; R241C

PubMed Link: 34039861

Variant Present in the following documents:

• cm9-134-1626-s001.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: 721C>T; R241C

PubMed Link: 33803550

Variant Present in the following documents:

• Main text
• IJNS-07-00017.pdf

View BVdb publication page

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Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese.

Npj Genomic Medicine

Wei, Chun-Yu CY; Yang, Jenn-Hwai JH; Yeh, Erh-Chan EC; Tsai, Ming-Fang MF; Kao, Hsiao-Jung HJ; Lo, Chen-Zen CZ; Chang, Lung-Pao LP; Lin, Wan-Jia WJ; Hsieh, Feng-Jen FJ; Belsare, Saurabh S; Bhaskar, Anand A; Su, Ming-Wei MW; Lee, Te-Chang TC; Lin, Yi-Ling YL; Liu, Fu-Tong FT; Shen, Chen-Yang CY; Li, Ling-Hui LH; Chen, Chien-Hsiun CH; Wall, Jeffrey D JD; Wu, Jer-Yuarn JY; Kwok, Pui-Yan PY

Publication Date: 2021-02-11

Variant appearance in text: rs76687508

PubMed Link: 33574314

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 721C>T; R241C

PubMed Link: 33564846

Variant Present in the following documents:

• Main text
• BSR-2020-1660_supp.pdf
• 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: 721C>T; Arg241Cys

PubMed Link: 33514801

Variant Present in the following documents:

• Main text
• 41598_2021_Article_81897.pdf

View BVdb publication page

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Dietary intake and nutritional status of patients with phenylketonuria in Taiwan.

Scientific Reports

Weng, Hui-Ling HL; Yang, Feng-Jung FJ; Chen, Pey-Rong PR; Hwu, Wuh-Liang WL; Lee, Ni-Chung NC; Chien, Yin-Hsiu YH

Publication Date: 2020-09-03

Variant appearance in text: PAH: R241C

PubMed Link: 32883979

Variant Present in the following documents:

• 41598_2020_Article_71361.pdf

View BVdb publication page

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Protein Degradation and the Pathologic Basis of Phenylketonuria and Hereditary Tyrosinemia.

International Journal Of Molecular Sciences

Sarodaya, Neha N; Suresh, Bharathi B; Kim, Kye-Seong KS; Ramakrishna, Suresh S

Publication Date: 2020-07-15

Variant appearance in text: PAH: Arg241Cys

PubMed Link: 32679806

Variant Present in the following documents:

• Main text
• ijms-21-04996.pdf

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: 721C>T; Arg241Cys

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: 721C>T; rs76687508

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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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: PAH: R241C

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 2

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: 721C>T

PubMed Link: 32039316

Variant Present in the following documents:

• Main text
• ao9b02955_si_001.pdf
• ao9b02955.pdf

View BVdb publication page

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Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Genome Medicine

Kanavy, Dona M DM; McNulty, Shannon M SM; Jairath, Meera K MK; Brnich, Sarah E SE; Bizon, Chris C; Powell, Bradford C BC; Berg, Jonathan S JS

Publication Date: 2019-11-29

Variant appearance in text: PAH: 721C>T; Arg241Cys

PubMed Link: 31783775

Variant Present in the following documents:

• Main text
• 13073_2019_683_MOESM2_ESM.xlsx, sheet 9
• 13073_2019_683_MOESM2_ESM.xlsx, sheet 8

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: 721C>T; R241C

PubMed Link: 31737040

Variant Present in the following documents:

• Main text

View BVdb publication page

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First Japanese case of maternal phenylketonuria treated with sapropterin dihydrochloride and the normal growth and development of the child.

Molecular Genetics And Metabolism Reports

Nyuzuki, Hiromi H; Yamazaki, Taro T; Saito, Megumi M; Ohtake, Akira A

Publication Date: 2019-12

Variant appearance in text: PAH: R241C

PubMed Link: 31720228

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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