Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: GAA: 1411_1414del; Glu471fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Case Report: Identification of Compound Heterozygous Mutations in a Patient With Late-Onset Glycogen Storage Disease Type II (Pompe Disease).

Frontiers In Neurology

Zhang, Huiting H; Chen, Jun J; Zhu, Yuchang Y; Ma, Xiaotang X; Zhong, Wangtao W

Publication Date: 2022

Variant appearance in text: GAA: 1411_1414del

PubMed Link: 35386406

Variant Present in the following documents:

• Main text
• fneur-13-839263.pdf

View BVdb publication page

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Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy.

Orphanet Journal Of Rare Diseases

Hsueh, Chien-Yu CY; Huang, Chii-Yuan CY; Yang, Chia-Feng CF; Chang, Chia-Chen CC; Lin, Wei-Sheng WS; Cheng, Hsiu-Lien HL; Wu, Shang-Liang SL; Cheng, Yen-Fu YF; Niu, Dau-Ming DM

Publication Date: 2021-08-05

Variant appearance in text: GAA: 1411_1414del

PubMed Link: 34353347

Variant Present in the following documents:

• Main text
• 13023_2021_Article_1817.pdf

View BVdb publication page

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Immune Tolerance-Adjusted Personalized Immunogenicity Prediction for Pompe Disease.

Frontiers In Immunology

De Groot, Anne S AS; Desai, Ankit K AK; Lelias, Sandra S; Miah, S M Shahjahan SMS; Terry, Frances E FE; Khan, Sundos S; Li, Cindy C; Yi, John S JS; Ardito, Matt M; Martin, William D WD; Kishnani, Priya S PS

Publication Date: 2021

Variant appearance in text: GAA: 1411_1414del

PubMed Link: 34220802

Variant Present in the following documents:

• DataSheet_1.pdf

View BVdb publication page

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: GAA: 1411_1414delGAGA

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.

Molecular Genetics And Metabolism Reports

Park, Kyung Sun KS

Publication Date: 2021-06

Variant appearance in text: GAA: 1411_1414del

PubMed Link: 33717985

Variant Present in the following documents:

• Main text
• main.pdf
• mmc1.xlsx, sheet 1

View BVdb publication page

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Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand.

Bmc Medical Genetics

Ngiwsara, Lukana L; Wattanasirichaigoon, Duangrurdee D; Tim-Aroon, Thipwimol T; Rojnueangnit, Kitiwan K; Noojaroen, Saisuda S; Khongkraparn, Arthaporn A; Sawangareetrakul, Phannee P; Ketudat-Cairns, James R JR; Charoenwattanasatien, Ratana R; Champattanachai, Voraratt V; Kuptanon, Chulaluck C; Pangkanon, Suthipong S; Svasti, Jisnuson J

Publication Date: 2019-09-11

Variant appearance in text: GAA: 1411_1414delGAGA

PubMed Link: 31510962

Variant Present in the following documents:

• Main text
• 12881_2019_Article_878.pdf

View BVdb publication page

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Newborn screening: Taiwanese experience.

Annals Of Translational Medicine

Chien, Yin-Hsiu YH; Hwu, Wuh-Liang WL; Lee, Ni-Chung NC

Publication Date: 2019-07

Variant appearance in text: GAA: 1411_1414del; E471Pfs*5

PubMed Link: 31392193

Variant Present in the following documents:

• Main text

View BVdb publication page

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GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.

Human Mutation

Reuser, Arnold J J AJJ; van der Ploeg, Ans T AT; Chien, Yin-Hsiu YH; Llerena, Juan J; Abbott, Mary-Alice MA; Clemens, Paula R PR; Kimonis, Virginia E VE; Leslie, Nancy N; Maruti, Sonia S SS; Sanson, Bernd-Jan BJ; Araujo, Roberto R; Periquet, Magali M; Toscano, Antonio A; Kishnani, Priya S PS; On Behalf Of The Pompe Registry Sites,

Publication Date: 2019-11

Variant appearance in text: GAA: 1411_1414del

PubMed Link: 31342611

Variant Present in the following documents:

• Main text
• HUMU-40-2146.pdf
• HUMU-40-2146-s001.pdf

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Extension of the Pompe mutation database by linking disease-associated variants to clinical severity.

Human Mutation

Niño, Monica Y MY; In 't Groen, Stijn L M SLM; Bergsma, Atze J AJ; van der Beek, Nadine A M E NAME; Kroos, Marian M; Hoogeveen-Westerveld, Marianne M; van der Ploeg, Ans T AT; Pijnappel, W W M Pim WWMP

Publication Date: 2019-11

Variant appearance in text: GAA: 1411_1414del

PubMed Link: 31254424

Variant Present in the following documents:

• Main text
• HUMU-40-1954.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: GAA: 1411_1414del

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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[Clinical characteristics and GAA gene mutation in children with glycogen storage disease type II: an analysis of 3 cases].

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal Of Contemporary Pediatrics

Yuan, Shan S; Jiang, Jie J; Zha, Lu-Ting LT; Yang, Zuo-Cheng ZC

Publication Date: 2017-10

Variant appearance in text: GAA: 1411_1414delGAGA; Glu471fs

PubMed Link: 29046207

Variant Present in the following documents:

• Main text

View BVdb publication page

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