Publications:

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Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing.

Orphanet Journal Of Rare Diseases

Zhang, Chuan C; 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: 2023-05-26

Variant appearance in text: PAH: 158G>A

PubMed Link: 37237386

Variant Present in the following documents:

• Main text
• 13023_2023_Article_2742.pdf

View BVdb publication page

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Applying amplification refractory mutation system technique to detecting cell-free fetal DNA for single-gene disorders purpose.

Frontiers In Genetics

Tan, Yu Y; Jian, Hui H; Zhang, Ranran R; Wang, Jing J; Zhou, Cong C; Xiao, Yuanyuan Y; Liang, Weibo W; Wang, Li L

Publication Date: 2023

Variant appearance in text: PAH: 158G>A

PubMed Link: 37113995

Variant Present in the following documents:

• Main text
• fgene-14-1071406.pdf

View BVdb publication page

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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: 158G>A

PubMed Link: 37098607

Variant Present in the following documents:

• 40246_2023_Article_475.pdf

View BVdb publication page

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A retrospective analysis of MS/MS screening for IEM in high-risk areas.

Bmc Medical Genomics

He, Xiao X; Kuang, Juan J; Lai, Jiahong J; Huang, Jingxiong J; Wang, Yijin Y; Lan, Guofeng G; Xie, Yingjun Y; Shi, Xuekai X

Publication Date: 2023-03-16

Variant appearance in text: PAH: 158G>A; Arg53His

PubMed Link: 36927542

Variant Present in the following documents:

• 12920_2023_Article_1483.pdf

View BVdb publication page

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A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China.

World Journal Of Pediatrics : Wjp

Yang, Ru-Lai RL; Qian, Gu-Ling GL; Wu, Ding-Wen DW; Miao, Jing-Kun JK; Yang, Xue X; Wu, Ben-Qing BQ; Yan, Ya-Qiong YQ; Li, Hai-Bo HB; Mao, Xin-Mei XM; He, Jun J; Shen, Huan H; Zou, Hui H; Xue, Shu-Yuan SY; Li, Xiao-Ze XZ; Niu, Ting-Ting TT; Xiao, Rui R; Zhao, Zheng-Yan ZY

Publication Date: 2023-02-27

Variant appearance in text: PAH: 158G>A

PubMed Link: 36847978

Variant Present in the following documents:

• 12519_2022_Article_670.pdf

View BVdb publication page

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Genetic influences on human blood metabolites in the Japanese population.

Iscience

Iwasaki, Takeshi T; Kamatani, Yoichiro Y; Sonomura, Kazuhiro K; Kawaguchi, Shuji S; Kawaguchi, Takahisa T; Takahashi, Meiko M; Ohmura, Koichiro K; Sato, Taka-Aki TA; Matsuda, Fumihiko F

Publication Date: 2023-01-20

Variant appearance in text: rs118092776

PubMed Link: 36582826

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases.

Annals Of Laboratory Medicine

Kim, Man Jin MJ; Kim, Soo Yeon SY; Lee, Jin Sook JS; Kang, Sanggoo S; Park, Lae-Jeong LJ; Choi, Wooyong W; Jung, Ju Yeol JY; Kim, Taehyung T; Park, Sung Sup SS; Ko, Jung Min JM; Seong, Moon-Woo MW; Chae, Jong Hee JH

Publication Date: 2023-05-01

Variant appearance in text: PAH: 158G>A

PubMed Link: 36544340

Variant Present in the following documents:

• alm-43-3-280.pdf

View BVdb publication page

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Mild hyperphenylalaninemia (hpa) presenting as orthostatic tremor: a case report.

Bmc Neurology

Li, Hua H; Yang, Hua H; Li, Min M; Liang, Li L; Zhu, Haojing H; Chen, Anan A; Qian, Hairong H

Publication Date: 2022-11-04

Variant appearance in text: PAH: 158G>A

PubMed Link: 36333673

Variant Present in the following documents:

• 12883_2022_Article_2946.pdf

View BVdb publication page

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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: 158G>A

PubMed Link: 36246604

Variant Present in the following documents:

• Main text
• fgene-13-801447.pdf

View BVdb publication page

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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: Arg53His

PubMed Link: 36104584

Variant Present in the following documents:

• Main text
• 11033_2022_Article_7579.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: Arg53His

PubMed Link: 35869558

Variant Present in the following documents:

• Main text
• 40246_2022_Article_397.pdf

View BVdb publication page

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Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation.

Bmc Medical Genomics

Miao, Mingzhu M; Lu, Shoulian S; Sun, Xiao X; Zhao, Meng M; Wang, Jue J; Su, Xiaotan X; Jin, Bai B; Sun, Lizhou L

Publication Date: 2022-07-13

Variant appearance in text: PAH: 158G>A; R53H; rs118092776

PubMed Link: 35831859

Variant Present in the following documents:

• 12920_2022_1311_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.

Plos One

Ueda, Atsushi A; Osawa, Motoki M; Naito, Haruaki H; Ochiai, Eriko E; Kakimoto, Yu Y

Publication Date: 2022

Variant appearance in text: PAH: 158G>A; Arg53His; rs118092776

PubMed Link: 35486589

Variant Present in the following documents:

• pone.0267751.s001.xls, 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: 158G>A; Arg53His

PubMed Link: 35372080

Variant Present in the following documents:

• Table_6.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: Arg53His

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: 158G>A

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_Article_2231.pdf

View BVdb publication page

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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: 158G>A; Arg53His

PubMed Link: 35079019

Variant Present in the following documents:

• Main text
• 41525_2021_Article_280.pdf

View BVdb publication page

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Newborn Screening in Japan-2021.

International Journal Of Neonatal Screening

Tajima, Toshihiro T

Publication Date: 2022-01-04

Variant appearance in text: PAH: 158G>A; R53H

PubMed Link: 35076455

Variant Present in the following documents:

• Main text

View BVdb publication page

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Newborn Screening in Japan-2021.

International Journal Of Neonatal Screening

Tajima, Toshihiro T

Publication Date: 2022-01-04

Variant appearance in text: PAH: 158G>A; R53H

PubMed Link: 35076455

Variant Present in the following documents:

• Main text

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: 158G>A; R53H

PubMed Link: 34704413

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exome sequencing and analysis of 454,787 UK Biobank participants.

Nature

Backman, Joshua D JD; Li, Alexander H AH; Marcketta, Anthony A; Sun, Dylan D; Mbatchou, Joelle J; Kessler, Michael D MD; Benner, Christian C; Liu, Daren D; Locke, Adam E AE; Balasubramanian, Suganthi S; Yadav, Ashish A; Banerjee, Nilanjana N; Gillies, Christopher E CE; Damask, Amy A; Liu, Simon S; Bai, Xiaodong X; Hawes, Alicia A; Maxwell, Evan E; Gurski, Lauren L; Watanabe, Kyoko K; Kosmicki, Jack A JA; Rajagopal, Veera V; Mighty, Jason J; , ; , ; Jones, Marcus M; Mitnaul, Lyndon L; Stahl, Eli E; Coppola, Giovanni G; Jorgenson, Eric E; Habegger, Lukas L; Salerno, William J WJ; Shuldiner, Alan R AR; Lotta, Luca A LA; Overton, John D JD; Cantor, Michael N MN; Reid, Jeffrey G JG; Yancopoulos, George G; Kang, Hyun M HM; Marchini, Jonathan J; Baras, Aris A; Abecasis, Gonçalo R GR; Ferreira, Manuel A R MAR

Publication Date: 2021-11

Variant appearance in text: PAH: Arg53His

PubMed Link: 34662886

Variant Present in the following documents:

• 41586_2021_4103_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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A comprehensive and universal approach for embryo testing in patients with different genetic disorders.

Clinical And Translational Medicine

Zhang, Shuo S; Lei, Caixia C; Wu, Junping J; Xiao, Min M; Zhou, Jing J; Zhu, Saijuan S; Fu, Jing J; Lu, Daru D; Sun, Xiaoxi X; Xu, Congjian C

Publication Date: 2021-07

Variant appearance in text: PAH: 158G>A

PubMed Link: 34323405

Variant Present in the following documents:

• CTM2-11-e490.pdf

View BVdb publication page

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Clinical Implementation of Expanded Carrier Screening in Pregnant Women at Early Gestational Weeks: A Chinese Cohort Study.

Genes

Shi, Mengmeng M; Liauw, Angeline Linna AL; Tong, Steve S; Zheng, Yu Y; Leung, Tak Yeung TY; Chong, Shuk Ching SC; Cao, Ye Y; Lau, Tze Kin TK; Choy, Kwong Wai KW; Chung, Jacqueline P W JPW

Publication Date: 2021-03-29

Variant appearance in text: PAH: 158G>A; R53H

PubMed Link: 33805278

Variant Present in the following documents:

• Main text
• genes-12-00496.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: 158G>A; R53H

PubMed Link: 33803550

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: 158G>A; R53H

PubMed Link: 33564846

Variant Present in the following documents:

• Main text
• bsr-41-bsr20201660.pdf

View BVdb publication page

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Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.

Molecular Genetics & Genomic Medicine

Ferreira, Filipa F; Azevedo, Luísa L; Neiva, Raquel R; Sousa, Carmen C; Fonseca, Helena H; Marcão, Ana A; Rocha, Hugo H; Carmona, Célia C; Ramos, Sónia S; Bandeira, Anabela A; Martins, Esmeralda E; Campos, Teresa T; Rodrigues, Esmeralda E; Garcia, Paula P; Diogo, Luísa L; Ferreira, Ana Cristina AC; Sequeira, Silvia S; Silva, Francisco F; Rodrigues, Luísa L; Gaspar, Ana A; Janeiro, Patrícia P; Amorim, António A; Vilarinho, Laura L

Publication Date: 2021-03

Variant appearance in text: PAH: 158G>A; Arg53His

PubMed Link: 33465300

Variant Present in the following documents:

• Main text
• MGG3-9-e1559.pdf

View BVdb publication page

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Identification of critical genetic variants associated with metabolic phenotypes of the Japanese population.

Communications Biology

Koshiba, Seizo S; Motoike, Ikuko N IN; Saigusa, Daisuke D; Inoue, Jin J; Aoki, Yuichi Y; Tadaka, Shu S; Shirota, Matsuyuki M; Katsuoka, Fumiki F; Tamiya, Gen G; Minegishi, Naoko N; Fuse, Nobuo N; Kinoshita, Kengo K; Yamamoto, Masayuki M

Publication Date: 2020-11-11

Variant appearance in text: PAH: R53H; rs118092776

PubMed Link: 33177615

Variant Present in the following documents:

• Main text
• 42003_2020_Article_1383.pdf
• 42003_2020_1383_MOESM6_ESM.xlsx, sheet 1
• 42003_2020_1383_MOESM5_ESM.xlsx, sheet 1
• 42003_2020_1383_MOESM7_ESM.xlsx, sheet 1

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: 158G>A; Arg53His; rs118092776

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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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: 158G>A; R53H

PubMed Link: 31947737

Variant Present in the following documents:

• Main text
• ijms-21-00325.pdf

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: PAH: R53H

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 13

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: 158G>A; Arg53His

PubMed Link: 31783775

Variant Present in the following documents:

• 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: 158G>A

PubMed Link: 31737040

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension.

Genome Medicine

Zhu, Na N; Pauciulo, Michael W MW; Welch, Carrie L CL; Lutz, Katie A KA; Coleman, Anna W AW; Gonzaga-Jauregui, Claudia C; Wang, Jiayao J; Grimes, Joseph M JM; Martin, Lisa J LJ; He, Hua H; , ; Shen, Yufeng Y; Chung, Wendy K WK; Nichols, William C WC

Publication Date: 2019-11-14

Variant appearance in text: PAH: R53H

PubMed Link: 31727138

Variant Present in the following documents:

• Main text
• 13073_2019_Article_685.pdf

View BVdb publication page

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Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension.

Genome Medicine

Zhu, Na N; Pauciulo, Michael W MW; Welch, Carrie L CL; Lutz, Katie A KA; Coleman, Anna W AW; Gonzaga-Jauregui, Claudia C; Wang, Jiayao J; Grimes, Joseph M JM; Martin, Lisa J LJ; He, Hua H; , ; Shen, Yufeng Y; Chung, Wendy K WK; Nichols, William C WC

Publication Date: 2019-11-14

Variant appearance in text: PAH: R53H

PubMed Link: 31727138

Variant Present in the following documents:

• Main text
• 13073_2019_Article_685.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: 158G>A; R53H

PubMed Link: 31355225

Variant Present in the following documents:

• Main text

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: 158G>A; Arg53His

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: R53H

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: 158G>A

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: R53H

PubMed Link: 30050108

Variant Present in the following documents:

• Main text
• 41598_2018_Article_29640.pdf

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: PAH: 158G>A; R53H; rs118092776

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 6
• MGG3-6-739-s002.xlsx, sheet 5

View BVdb publication page

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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: 158G>A; Arg53His

PubMed Link: 29316886

Variant Present in the following documents:

• 12881_2017_Article_516.pdf

View BVdb publication page

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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: 158G>A; Arg53His

PubMed Link: 28982351

Variant Present in the following documents:

• Main text
• 12881_2017_Article_467.pdf

View BVdb publication page

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Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.

Plos One

Bakhchane, Amina A; Charif, Majida M; Bousfiha, Amale A; Boulouiz, Redouane R; Nahili, Halima H; Rouba, Hassan H; Charoute, Hicham H; Lenaers, Guy G; Barakat, Abdelhamid A

Publication Date: 2017

Variant appearance in text: PAH: 158G>A; Arg53His

PubMed Link: 28472130

Variant Present in the following documents:

• pone.0176516.s002.xlsx, sheet 1

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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: 158G>A; R53H

PubMed Link: 27578510

Variant Present in the following documents:

• alm-36-561-s006.pdf

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The structural origin of metabolic quantitative diversity.

Scientific Reports

Koshiba, Seizo S; Motoike, Ikuko I; Kojima, Kaname K; Hasegawa, Takanori T; Shirota, Matsuyuki M; Saito, Tomo T; Saigusa, Daisuke D; Danjoh, Inaho I; Katsuoka, Fumiki F; Ogishima, Soichi S; Kawai, Yosuke Y; Yamaguchi-Kabata, Yumi Y; Sakurai, Miyuki M; Hirano, Sachiko S; Nakata, Junichi J; Motohashi, Hozumi H; Hozawa, Atsushi A; Kuriyama, Shinichi S; Minegishi, Naoko N; Nagasaki, Masao M; Takai-Igarashi, Takako T; Fuse, Nobuo N; Kiyomoto, Hideyasu H; Sugawara, Junichi J; Suzuki, Yoichi Y; Kure, Shigeo S; Yaegashi, Nobuo N; Tanabe, Osamu O; Kinoshita, Kengo K; Yasuda, Jun J; Yamamoto, Masayuki M

Publication Date: 2016-08-16

Variant appearance in text: PAH: R53H; rs118092776

PubMed Link: 27528366

Variant Present in the following documents:

• Main text

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An exome array study of the plasma metabolome.

Nature Communications

Rhee, Eugene P EP; Yang, Qiong Q; Yu, Bing B; Liu, Xuan X; Cheng, Susan S; Deik, Amy A; Pierce, Kerry A KA; Bullock, Kevin K; Ho, Jennifer E JE; Levy, Daniel D; Florez, Jose C JC; Kathiresan, Sek S; Larson, Martin G MG; Vasan, Ramachandran S RS; Clish, Clary B CB; Wang, Thomas J TJ; Boerwinkle, Eric E; O'Donnell, Christopher J CJ; Gerszten, Robert E RE

Publication Date: 2016-07-25

Variant appearance in text: PAH: Arg53His; rs118092776

PubMed Link: 27453504

Variant Present in the following documents:

• Main text
• ncomms12360.pdf

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