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: E888*

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: 2662G>T; Glu888Ter

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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Genetic trajectory and clonal evolution of multiple primary lung cancer with lymph node metastasis.

Cancer Gene Therapy

Tian, He H; Wang, Yalong Y; Yang, Zhenlin Z; Chen, Ping P; Xu, Jiachen J; Tian, Yanhua Y; Fan, Tao T; Xiao, Chu C; Bai, Guangyu G; Li, Lin L; Zheng, Bo B; Li, Chunxiang C; He, Jie J

Publication Date: 2023-01-19

Variant appearance in text: GAA: E888*

PubMed Link: 36653483

Variant Present in the following documents:

• 41417_2022_572_MOESM2_ESM.xlsx, sheet 1
• 41417_2022_572_MOESM9_ESM.xlsx, sheet 6

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Induced pluripotent stem cell for modeling Pompe disease.

Frontiers In Cardiovascular Medicine

Huang, Wenjun W; Zhang, Yanmin Y; Zhou, Rui R

Publication Date: 2022

Variant appearance in text: GAA: 2662G>T; E888X

PubMed Link: 36620633

Variant Present in the following documents:

• Main text
• fcvm-09-1061384.pdf

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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: 2662G>T

PubMed Link: 36237614

Variant Present in the following documents:

• Main text
• fneur-13-965207.pdf

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Genotypic and phenotypic characteristics of 12 chinese children with glycogen storage diseases.

Frontiers In Genetics

Dong, Rui R; Wei, Xuxia X; Zhang, Kaihui K; Song, Fengling F; Lv, Yuqiang Y; Gao, Min M; Wang, Dong D; Ma, Jian J; Gai, Zhongtao Z; Liu, Yi Y

Publication Date: 2022

Variant appearance in text: GAA: 2662G>T; Glu888X

PubMed Link: 36105079

Variant Present in the following documents:

• Main text
• fgene-13-932760.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: 2662G>T; Glu888*

PubMed Link: 35833019

Variant Present in the following documents:

• Main text
• fphar-13-903488.pdf

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Clinical characteristics and survival of children with hypertrophic cardiomyopathy in China: A multicentre retrospective cohort study.

Eclinicalmedicine

Chan, Wenxiu W; Yang, Shiwei S; Wang, Jian J; Tong, Shilu S; Lin, Minyin M; Lu, Pengtao P; Yao, Ruen R; Wu, Lanping L; Chen, Lijun L; Guo, Ying Y; Shen, Jie J; Liu, Tingliang T; Li, Fen F; Chen, Huiwen H; Zhang, Hao H; Wang, Shushui S; Fu, Lijun L

Publication Date: 2022-07

Variant appearance in text: GAA: 2662G>T; Glu888*

PubMed Link: 35747179

Variant Present in the following documents:

• mmc1.pdf

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Real-world patient data on immunity and COVID-19 status of patients with MPS, Gaucher, and Pompe diseases from Turkey.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie

Kilavuz, S S; Kor, D D; Bulut, F D FD; Serbes, M M; Karagoz, D D; Altıntas, D U DU; Bisgin, A A; Seydaoğlu, G G; Mungan, H N O HNO

Publication Date: 2022-08

Variant appearance in text: GAA: E888*

PubMed Link: 35705384

Variant Present in the following documents:

• Main text
• main.pdf

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A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China.

Clinical And Translational Medicine

Jian, Min M; Wang, Xiaohong X; Sui, Yuanyuan Y; Fang, Mingyan M; Feng, Chenchen C; Huang, Yingping Y; Liu, Chunhua C; Guo, Ruidong R; Guan, Yuanning Y; Gao, Yuxiao Y; Wang, Zhiwei Z; Li, Shuli S; Cheng, Bochen B; Sun, Lina L; Cui, Fenghua F; Guo, Jia J; Zhan, Ying Y; Zhang, Guohong G; Zheng, Ling L; Su, Fengxia F; Xue, Wei W; Qian, Puyi P; Gao, Shaobo S; Chen, Jiayu J; Guan, Lingyao L; Lu, Haorong H; Kristiansen, Karsten K; Jin, Xin X; Chen, Fang F; Zhao, Yuhuan Y; Hammarström, Lennart L; Jiang, Xiaojing X; Liu, Junnian J; Gao, Ya Y

Publication Date: 2022-06

Variant appearance in text: GAA: E888*

PubMed Link: 35665479

Variant Present in the following documents:

• Main text
• CTM2-12-e843.pdf
• CTM2-12-e843-s002.xlsx, sheet 6
• CTM2-12-e843-s002.xlsx, sheet 10

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Classic infantile-onset Pompe disease with histopathological neurologic findings linked to a novel GAA gene 4 bp deletion: A case study.

Molecular Genetics & Genomic Medicine

Cerón-Rodríguez, Magdalena M; Castillo-García, Daniela D; Acosta-Rodríguez-Bueno, Carlos-Patricio CP; Aguirre-Hernández, Jesús J; Murillo-Eliosa, Juan-Rafael JR; Valencia-Mayoral, Pedro P; Escobar-Sánchez, Argelia A; Salgado-Loza, Juan-Luis JL

Publication Date: 2022-07

Variant appearance in text: GAA: Glu888Ter

PubMed Link: 35532199

Variant Present in the following documents:

• Main text
• MGG3-10-e1957.pdf

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Inborn errors of metabolism: Lessons from iPSC models.

Reviews In Endocrine & Metabolic Disorders

Escribá, Rubén R; Ferrer-Lorente, Raquel R; Raya, Ángel Á

Publication Date: 2021-12

Variant appearance in text: GAA: E888X

PubMed Link: 34241766

Variant Present in the following documents:

• 11154_2021_Article_9671.pdf
• 11154_2021_9671_MOESM1_ESM.pdf

View BVdb publication page

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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: E888X

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: 2662G>T; Glu888Ter; rs765718882

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: 2662G>T; Glu888Ter

PubMed Link: 33717985

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Li, Cindy C; Desai, Ankit K AK; Gupta, Punita P; Dempsey, Katherine K; Bhambhani, Vikas V; Hopkin, Robert J RJ; Ficicioglu, Can C; Tanpaiboon, Pranoot P; Craigen, William J WJ; Rosenberg, Amy S AS; Kishnani, Priya S PS

Publication Date: 2021-05

Variant appearance in text: GAA: 2662G>T

PubMed Link: 33495531

Variant Present in the following documents:

• Main text
• nihms-1680101.pdf

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Design of efficacious somatic cell genome editing strategies for recessive and polygenic diseases.

Nature Communications

Carlson-Stevermer, Jared J; Das, Amritava A; Abdeen, Amr A AA; Fiflis, David D; Grindel, Benjamin I BI; Saxena, Shivani S; Akcan, Tugce T; Alam, Tausif T; Kletzien, Heidi H; Kohlenberg, Lucille L; Goedland, Madelyn M; Dombroe, Micah J MJ; Saha, Krishanu K

Publication Date: 2020-12-08

Variant appearance in text: GAA: 2662G>T

PubMed Link: 33293555

Variant Present in the following documents:

• 41467_2020_20065_MOESM1_ESM.pdf

View BVdb publication page

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Lessons Learned from Pompe Disease Newborn Screening and Follow-up.

International Journal Of Neonatal Screening

Klug, Tracy L TL; Swartz, Lori B LB; Washburn, Jon J; Brannen, Candice C; Kiesling, Jami L JL

Publication Date: 2020-03

Variant appearance in text: GAA: 2662G>T

PubMed Link: 33073009

Variant Present in the following documents:

• Main text
• IJNS-06-00011.pdf

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Benefits of Prophylactic Short-Course Immune Tolerance Induction in Patients With Infantile Pompe Disease: Demonstration of Long-Term Safety and Efficacy in an Expanded Cohort.

Frontiers In Immunology

Desai, Ankit K AK; Baloh, Carolyn H CH; Sleasman, John W JW; Rosenberg, Amy S AS; Kishnani, Priya S PS

Publication Date: 2020

Variant appearance in text: GAA: 2662G>T

PubMed Link: 32849613

Variant Present in the following documents:

• Main text
• fimmu-11-01727.pdf

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Molecular genetics of Pompe disease: a comprehensive overview.

Annals Of Translational Medicine

Peruzzo, Paolo P; Pavan, Eleonora E; Dardis, Andrea A

Publication Date: 2019-07

Variant appearance in text: GAA: 2662G>T; Glu888*

PubMed Link: 31392190

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: 2662G>T; Glu888Ter

PubMed Link: 31342611

Variant Present in the following documents:

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

View BVdb publication page

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Characteristics of Pompe disease in China: a report from the Pompe registry.

Orphanet Journal Of Rare Diseases

Zhao, Yuying Y; Wang, Zhaoxia Z; Lu, Jiahong J; Gu, Xuefan X; Huang, Yonglan Y; Qiu, Zhengqing Z; Wei, Yanping Y; Yan, Chuanzhu C

Publication Date: 2019-04-03

Variant appearance in text: GAA: 2662G>T

PubMed Link: 30943998

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 2662G>T

PubMed Link: 30897595

Variant Present in the following documents:

• cm9-132-805.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: 2662G>T

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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Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.

Clinical Chemistry

Lin, Na N; Huang, Jingyu J; Violante, Sara S; Orsini, Joseph J JJ; Caggana, Michele M; Hughes, Erin E EE; Stevens, Colleen C; DiAntonio, Lisa L; Chieh Liao, Hsuan H; Hong, Xinying X; Ghomashchi, Farideh F; Babu Kumar, Arun A; Zhou, Hui H; Kornreich, Ruth R; Wasserstein, Melissa M; Gelb, Michael H MH; Yu, Chunli C

Publication Date: 2017-04

Variant appearance in text: GAA: E888X

PubMed Link: 28196920

Variant Present in the following documents:

• Main text

View BVdb publication page

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Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study.

Orphanet Journal Of Rare Diseases

Peng, Steven Shinn-Forng SS; Hwu, Wuh-Liang WL; Lee, Ni-Chung NC; Tsai, Fuu-Jen FJ; Tsai, Wen-Hui WH; Chien, Yin-Hsiu YH

Publication Date: 2016-05-17

Variant appearance in text: GAA: 2662G>T

PubMed Link: 27183828

Variant Present in the following documents:

• Main text
• 13023_2016_Article_446.pdf

View BVdb publication page

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Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany.

Jimd Reports

Hahn, Andreas A; Praetorius, Susanne S; Karabul, Nesrin N; Dießel, Johanna J; Schmidt, Dorle D; Motz, Reinald R; Haase, Claudia C; Baethmann, Martina M; Hennermann, Julia B JB; Smitka, Martin M; Santer, René R; Muschol, Nicole N; Meyer, Ann A; Marquardt, Thorsten T; Huemer, Martina M; Thiels, Charlotte C; Rohrbach, Marianne M; Seyfullah, Gökce G; Mengel, Eugen E

Publication Date: 2015

Variant appearance in text: GAA: 2662G>T

PubMed Link: 25626711

Variant Present in the following documents:

• Main text

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: 2662G>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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The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients.

Acta Neuropathologica Communications

Feeney, Erin J EJ; Austin, Stephanie S; Chien, Yin-Hsiu YH; Mandel, Hanna H; Schoser, Benedikt B; Prater, Sean S; Hwu, Wuh-Liang WL; Ralston, Evelyn E; Kishnani, Priya S PS; Raben, Nina N

Publication Date: 2014-01-02

Variant appearance in text: GAA: 2662G>T; Glu888X

PubMed Link: 24383498

Variant Present in the following documents:

View BVdb publication page

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