Publications:

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Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening.

Genes

Avnat, Eden E; Shapira, Guy G; Shoval, Shelly S; Israel-Elgali, Ifat I; Alkelai, Anna A; Shuldiner, Alan R AR; Gonzaga-Jauregui, Claudia C; Zidan, Jamal J; Maray, Taiseer T; Shomron, Noam N; Friedman, Eitan E

Publication Date: 2023-04-18

Variant appearance in text: PAH: 320A>G; His107Arg; rs542645236

PubMed Link: 37107695

Variant Present in the following documents:

• genes-14-00937.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: 320A>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: H107R

PubMed Link: 36787440

Variant Present in the following documents:

• Main text
• MGG3-11-e2152.pdf

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Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases.

Journal Of Personalized Medicine

Sotnikova, Evgeniia A EA; Kiseleva, Anna V AV; Kutsenko, Vladimir A VA; Zharikova, Anastasia A AA; Ramensky, Vasily E VE; Divashuk, Mikhail G MG; Vyatkin, Yuri V YV; Klimushina, Marina V MV; Ershova, Alexandra I AI; Revazyan, Karina Z KZ; Skirko, Olga P OP; Zaicenoka, Marija M; Efimova, Irina A IA; Pokrovskaya, Maria S MS; Kopylova, Oksana V OV; Glechan, Anush M AM; Shalnova, Svetlana A SA; Meshkov, Alexey N AN; Drapkina, Oxana M OM

Publication Date: 2022-07-12

Variant appearance in text: rs542645236

PubMed Link: 35887629

Variant Present in the following documents:

• Main text
• jpm-12-01132.pdf

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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: 320A>G; H107R; rs542645236

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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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: 320A>G

PubMed Link: 35193651

Variant Present in the following documents:

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

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: 320A>G; His107Arg

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: 320A>G

PubMed Link: 34039861

Variant Present in the following documents:

• cm9-134-1626-s001.pdf

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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: 320A>G; His107Arg

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: PAH: 320A>G; His107Arg; rs542645236

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: PAH: H107R

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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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: 320A>G; H107R

PubMed Link: 30459323

Variant Present in the following documents:

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

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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: 320A>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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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: H107R

PubMed Link: 30050108

Variant Present in the following documents:

• Main text
• 41598_2018_Article_29640.pdf

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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: 320A>G; His107Arg

PubMed Link: 29316886

Variant Present in the following documents:

• 12881_2017_Article_516.pdf

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The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients.

Scientific Reports

Zhu, Tianwen T; Ye, Jun J; Han, Lianshu L; Qiu, Wenjuan W; Zhang, Huiwen H; Liang, Lili L; Gu, Xuefan X

Publication Date: 2017-07-28

Variant appearance in text: PAH: His107Arg

PubMed Link: 28754886

Variant Present in the following documents:

View BVdb publication page

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Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp

Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N

Publication Date: 2016-11

Variant appearance in text: PAH: 320A>G; His107Arg

PubMed Link: 27697855

Variant Present in the following documents:

• 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5

View BVdb publication page

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A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.

Annals Of Laboratory Medicine

Park, Kyoung Jin KJ; Park, Seungman S; Lee, Eunhee E; Park, Jong Ho JH; Park, June Hee JH; Park, Hyung Doo HD; Lee, Soo Youn SY; Kim, Jong Won JW

Publication Date: 2016-11

Variant appearance in text: PAH: 320A>G; H107R

PubMed Link: 27578510

Variant Present in the following documents:

• alm-36-561-s006.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: H107R

PubMed Link: 26503515

Variant Present in the following documents:

• Main text
• srep15769.pdf

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