Publications:

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HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology

Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G

Publication Date: 2023-04-22

Variant appearance in text: GAA: P361L

PubMed Link: 37087497

Variant Present in the following documents:

• 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1

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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: 1082C>T; Pro361Leu

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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High-risk screening of late-onset Pompe disease: A different early portrait in China.

Frontiers In Neurology

Jiao, Kexin K; Dong, Jihong J; Luo, Sushan S; Yu, Liqiang L; Ke, Qing Q; Wang, Zhiqiang Z; Luan, Xinghua X; Zhang, Xiaojie X; Guo, Junhong J; Chen, Yan Y; Li, Xihua X; Tan, Song S; Qian, Fangyuan F; Jiang, Jianming J; Yu, Xuen X; Yue, Dongyue D; Liu, Changxia C; Luo, Lijun L; Li, Jianping J; Qu, Yanzhou Y; Chen, Lan L; Tu, Jianglong J; Sun, Chong C; Yan, Chong C; Song, Jie J; Xi, Jianying J; Lin, Jie J; Lu, Jiahong J; Zhao, Chongbo C; Zhu, Wenhua W; Fang, Qi Q

Publication Date: 2022

Variant appearance in text: GAA: 1082C>T; P361L

PubMed Link: 36237614

Variant Present in the following documents:

• Main text
• fneur-13-965207.pdf

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A Multi-Centre Prospective Study of the Efficacy and Safety of Alglucosidase Alfa in Chinese Patients With Infantile-Onset Pompe Disease.

Frontiers In Pharmacology

Zhu, Diqi D; Zhu, Jiacong J; Qiu, Wenjuan W; Wang, Benzhen B; Liu, Lin L; Yu, Xiaodan X; Ou, Zhenheng Z; Shan, Guangsong G; Wang, Jian J; Li, Bin B; Chen, Xiaokang X; Liu, Cong C; Li, Zipu Z; Fu, Lijun L

Publication Date: 2022

Variant appearance in text: GAA: 1082C>T; Pro361Leu

PubMed Link: 35833019

Variant Present in the following documents:

• Main text
• fphar-13-903488.pdf

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Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China.

Frontiers In Genetics

Liu, Yingchao Y; Hao, Chanjuan C; Li, Kechun K; Hu, Xuyun X; Gao, Hengmiao H; Zeng, Jiansheng J; Guo, Ruolan R; Liu, Jun J; Guo, Jun J; Li, Zheng Z; Qi, Zhan Z; Jia, Xinlei X; Li, Wei W; Qian, Suyun S

Publication Date: 2021

Variant appearance in text: GAA: 1082C>T; Pro361Leu

PubMed Link: 34539730

Variant Present in the following documents:

• Main text
• Table_1.xlsx, sheet 1
• fgene-12-677699.pdf

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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:

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: 1082C>T

PubMed Link: 34220802

Variant Present in the following documents:

• DataSheet_1.pdf

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Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.

Archives Of Disease In Childhood

Dai, Dan D; Mei, Mei M; Hu, Liyuan L; Cao, Yun Y; Wang, Xiaochuan X; Wang, Libo L; Lu, Yulan Y; Yang, Lin L; Dong, Xinran X; Wang, Huijun H; Wu, Bingbing B; Qian, Liling L

Publication Date: 2022-02

Variant appearance in text: GAA: P361L

PubMed Link: 34134972

Variant Present in the following documents:

• archdischild-2021-322058supp001.pdf

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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: 1082C>T; Pro361Leu; rs755253527

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: 1082C>T; Pro361Leu

PubMed Link: 33717985

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: GAA: P361L

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

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: GAA: 1082C>T; Pro361Leu; rs755253527

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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Novel Mutations Found in Individuals with Adult-Onset Pompe Disease.

Genes

Aung-Htut, May T MT; Ham, Kristin A KA; Tchan, Michel C MC; Fletcher, Sue S; Wilton, Steve D SD

Publication Date: 2020-01-28

Variant appearance in text: GAA: 1082C>T; Pro361Leu; rs755253527

PubMed Link: 32012848

Variant Present in the following documents:

• Main text
• genes-11-00135.pdf

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Cardiac Murmur in a Boy with Normal Paternal Prenatal Carrier Screening for Pompe Disease.

Case Reports In Pediatrics

Jay, Allison M AM; Anne, Premchand P; Stockton, David D

Publication Date: 2019

Variant appearance in text: GAA: 1082C>T; Pro361Leu

PubMed Link: 31915562

Variant Present in the following documents:

• Main text
• CRIPE2019-6274979.pdf

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Comprehensive approach to weaning in difficult-to-wean infantile and juvenile-onset glycogen-storage disease type II patients: a case series.

Italian Journal Of Pediatrics

Xu, Lingling L; Ba, Hongjun H; Pei, Yuxin Y; Huang, Xueqiong X; Liang, Yujian Y; Zhang, Lidan L; Huang, Huimin H; Zhang, Cheng C; Tang, Wen W

Publication Date: 2019-08-22

Variant appearance in text: GAA: 1082C>T

PubMed Link: 31439017

Variant Present in the following documents:

• Main text
• 13052_2019_Article_692.pdf

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: 1082C>T; Pro361Leu

PubMed Link: 31342611

Variant Present in the following documents:

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

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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: GAA: P361L

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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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: 1082C>T

PubMed Link: 31254424

Variant Present in the following documents:

• Main text
• HUMU-40-1954.pdf

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Activated mTOR signaling pathway in myofibers with inherited metabolic defect might be an evidence for mTOR inhibition therapies.

Chinese Medical Journal

Lyu, Jing-Wei JW; Xu, Xue-Bi XB; Ji, Kun-Qian KQ; Zhang, Na N; Sun, Yuan Y; Zhao, Dan-Dan DD; Zhao, Yu-Ying YY; Yan, Chuan-Zhu CZ

Publication Date: 2019-04-05

Variant appearance in text: GAA: 1082C>T

PubMed Link: 30897595

Variant Present in the following documents:

• cm9-132-805.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: GAA: 1082C>T

PubMed Link: 30275481

Variant Present in the following documents:

• 41431_2018_253_MOESM10_ESM.xlsx, sheet 1
• 41431_2018_253_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients.

Molecular Genetics And Metabolism Reports

Al-Hassnan, Zuhair N ZN; Khalifa, Ola A OA; Bubshait, Dalal K DK; Tulbah, Sahar S; Alkorashy, Maarab M; Alzaidan, Hamad H; Alowain, Mohammed M; Rahbeeni, Zuhair Z; Al-Sayed, Moeen M

Publication Date: 2018-06

Variant appearance in text: GAA: 1082C>T; Pro361Leu

PubMed Link: 30023291

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.

Nature Communications

Roig-Zamboni, Véronique V; Cobucci-Ponzano, Beatrice B; Iacono, Roberta R; Ferrara, Maria Carmina MC; Germany, Stanley S; Bourne, Yves Y; Parenti, Giancarlo G; Moracci, Marco M; Sulzenbacher, Gerlind G

Publication Date: 2017-10-24

Variant appearance in text: GAA: P361L

PubMed Link: 29061980

Variant Present in the following documents:

• 41467_2017_1263_MOESM1_ESM.pdf

View BVdb publication page

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Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease.

Jimd Reports

Swift, Gyani G; Cleary, Maureen M; Grunewald, Stephanie S; Lozano, Sonia S; Ryan, Martina M; Davison, James J

Publication Date: 2017

Variant appearance in text: GAA: 1082C>T

PubMed Link: 27344650

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: GAA: P361L

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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Infantile Pompe disease: A case report and review of the Chinese literature.

Experimental And Therapeutic Medicine

Liu, Yun Y; Yang, Yang Y; Wang, Beibei B; Wu, Lizhi L; Liang, Honglu H; Kan, Qing Q; Cao, Zhaolan Z; Zhao, Youyan Y; Zhou, Xiaoyu X

Publication Date: 2016-01

Variant appearance in text: GAA: P361L

PubMed Link: 26889246

Variant Present in the following documents:

• Main text

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: GAA: P361L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.

Bmc Medical Genetics

Liu, Xiao X; Wang, Zhaoxia Z; Jin, Weina W; Lv, He H; Zhang, Wei W; Que, Chengli C; Huang, Yu Y; Yuan, Yun Y

Publication Date: 2014-12-20

Variant appearance in text: GAA: 1082C>T

PubMed Link: 25526786

Variant Present in the following documents:

• Main text
• 12881_2014_Article_141.pdf

View BVdb publication page

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: GAA: P361L

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1

View BVdb publication page

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Hypertrophic cardiomyopathy in pompe disease is not limited to the classic infantile-onset phenotype.

Jimd Reports

Lee, Dong-Hwan DH; Qiu, Wen-Juan WJ; Lee, Jeongho J; Chien, Yin-Hsiu YH; Hwu, Wuh-Liang WL

Publication Date: 2014

Variant appearance in text: GAA: 1082C>T; Pro361Leu

PubMed Link: 25213570

Variant Present in the following documents:

• Main text

View BVdb publication page

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Ocular and histologic findings in a series of children with infantile pompe disease treated with enzyme replacement therapy.

Journal Of Pediatric Ophthalmology And Strabismus

Prakalapakorn, S Grace SG; Proia, Alan D AD; Yanovitch, Tammy L TL; DeArmey, Stephanie S; Mendelsohn, Nancy J NJ; Aleck, Kyrieckos A KA; Kishnani, Priya S PS

Publication Date: 2014

Variant appearance in text: GAA: 1082C>T; Pro361Leu

PubMed Link: 25139343

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular genetics of late onset glycogen storage disease II in Italy.

Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology

Pittis, M G MG; Filocamo, M M

Publication Date: 2007-07

Variant appearance in text: GAA: 1082C>T; P361L

PubMed Link: 17915575

Variant Present in the following documents:

• Main text

View BVdb publication page

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