Publications:

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: GAA: G576S

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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OpenCustomDB: Integration of Unannotated Open Reading Frames and Genetic Variants to Generate More Comprehensive Customized Protein Databases.

Journal Of Proteome Research

Guilloy, Noé N; Brunet, Marie A MA; Leblanc, Sébastien S; Jacques, Jean-François JF; Hardy, Marie-Pierre MP; Ehx, Grégory G; Lanoix, Joël J; Thibault, Pierre P; Perreault, Claude C; Roucou, Xavier X

Publication Date: 2023-03-24

Variant appearance in text: GAA: Gly576Ser

PubMed Link: 36961377

Variant Present in the following documents:

• pr3c00054_si_002.xlsx, sheet 2

View BVdb publication page

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Newborn screening for Pompe disease in Italy: Long-term results and future challenges.

Molecular Genetics And Metabolism Reports

Gragnaniello, Vincenza V; Pijnappel, Pim W W M PWWM; Burlina, Alessandro P AP; In 't Groen, Stijn L M SLM; Gueraldi, Daniela D; Cazzorla, Chiara C; Maines, Evelina E; Polo, Giulia G; Salviati, Leonardo L; Di Salvo, Giovanni G; Burlina, Alberto B AB

Publication Date: 2022-12

Variant appearance in text: GAA: 1726G>A; Gly576Ser

PubMed Link: 36310651

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Investigating Late-Onset Pompe Prevalence in Neuromuscular Medicine Academic Practices: The IPaNeMA Study.

Neurology. Genetics

Wencel, Marie M; Shaibani, Aziz A; Goyal, Namita A NA; Dimachkie, Mazen M MM; Trivedi, Jaya J; Johnson, Nicholas E NE; Gutmann, Laurie L; Wicklund, Matthew P MP; Bandyopadhay, Sankar S; Genge, Angela L AL; Freimer, Miriam L ML; Goyal, Neelam N; Pestronk, Alan A; Florence, Julaine J; Karam, Chafic C; Ralph, Jeffrey W JW; Rasheed, Zinah Z; Hays, Melissa M; Hopkins, Steve S; Mozaffar, Tahseen T

Publication Date: 2021-12

Variant appearance in text: GAA: 1726G>A

PubMed Link: 36299500

Variant Present in the following documents:

• Main text
• NG2021016977.pdf

View BVdb publication page

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Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death.

Frontiers In Cardiovascular Medicine

Liu, Yu-Xing YX; Yu, Rong R; Sheng, Yue Y; Fan, Liang-Liang LL; Deng, Yao Y

Publication Date: 2022

Variant appearance in text: GAA: G576S

PubMed Link: 36277747

Variant Present in the following documents:

• Data_Sheet_1.xls, sheet 1

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: GAA: G576S

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2

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: G576S

PubMed Link: 36237614

Variant Present in the following documents:

• Main text
• fneur-13-965207.pdf

View BVdb publication page

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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: Gly576Ser

PubMed Link: 36105079

Variant Present in the following documents:

• Main text
• fgene-13-932760.pdf

View BVdb publication page

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Muscle Biopsy: A Requirement for Precision Medicine in Adult-Onset Myopathy.

Journal Of Clinical Medicine

Wu, Meng-Ju MJ; Liao, Wei-An WA; Lin, Po-Yu PY; Sun, Yuan-Ting YT

Publication Date: 2022-03-13

Variant appearance in text: GAA: 1726G>A; Gly576Ser

PubMed Link: 35329906

Variant Present in the following documents:

• Main text
• jcm-11-01580.pdf

View BVdb publication page

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Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.

Nature Communications

Arnadottir, Gudny A GA; Oddsson, Asmundur A; Jensson, Brynjar O BO; Gisladottir, Svanborg S; Simon, Mariella T MT; Arnthorsson, Asgeir O AO; Katrinardottir, Hildigunnur H; Fridriksdottir, Run R; Ivarsdottir, Erna V EV; Jonasdottir, Adalbjorg A; Jonasdottir, Aslaug A; Barrick, Rebekah R; Saemundsdottir, Jona J; le Roux, Louise L; Oskarsson, Gudjon R GR; Asmundsson, Jurate J; Steffensen, Thora T; Gudmundsson, Kjartan R KR; Ludvigsson, Petur P; Jonsson, Jon J JJ; Masson, Gisli G; Jonsdottir, Ingileif I; Holm, Hilma H; Jonasson, Jon G JG; Magnusson, Olafur Th OT; Thorarensen, Olafur O; Abdenur, Jose J; Norddahl, Gudmundur L GL; Gudbjartsson, Daniel F DF; Bjornsson, Hans T HT; Thorsteinsdottir, Unnur U; Sulem, Patrick P; Stefansson, Kari K

Publication Date: 2022-02-04

Variant appearance in text: GAA: Gly576Ser

PubMed Link: 35121750

Variant Present in the following documents:

• 41467_2022_28330_MOESM1_ESM.pdf

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: GAA: G576S; rs1800307

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Clinical manifestations and acid alpha-glucosidase mutation characterisation of a cohort of patients with late-onset Pompe disease in eastern China.

Annals Of Translational Medicine

Zhao, Hui-Hui HH; Ma, Zhi Z; Ying, Zi-Xuan ZX; Niu, Feng-Nan FN; Luo, Mao-Tao MT; Wang, Zheng Z; Cheng, Xi X; Zhang, Qian-Qian QQ; Niu, Qi Q

Publication Date: 2021-12

Variant appearance in text: GAA: 1726G>A

PubMed Link: 35071497

Variant Present in the following documents:

• atm-09-24-1803-prf.pdf

View BVdb publication page

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Case Report: Anesthetic Management and Electrical Cardiometry as Intensive Hemodynamic Monitoring During Cheiloplasty in an Infant With Enzyme-Replaced Pompe Disease and Preserved Preoperative Cardiac Function.

Frontiers In Pediatrics

Liu, Meng-Chen MC; Wang, Ming-Tse MT; Chen, Philip Kuo-Ting PK; Niu, Dau-Ming DM; Fan Chiang, Yu-Hsuan YH; Hsieh, Ming-Hui MH; Tsai, Hsiao-Chien HC

Publication Date: 2021

Variant appearance in text: GAA: Gly576Ser

PubMed Link: 34966699

Variant Present in the following documents:

• Main text

View BVdb publication page

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Current status of newborn screening for Pompe disease in Japan.

Orphanet Journal Of Rare Diseases

Sawada, Takaaki T; Kido, Jun J; Sugawara, Keishin K; Momosaki, Ken K; Yoshida, Shinichiro S; Kojima-Ishii, Kanako K; Inoue, Takahito T; Matsumoto, Shirou S; Endo, Fumio F; Ohga, Shouichi S; Hirose, Shinichi S; Nakamura, Kimitoshi K

Publication Date: 2021-12-18

Variant appearance in text: GAA: G576S; rs1800307

PubMed Link: 34922579

Variant Present in the following documents:

• Main text
• 13023_2021_Article_2146.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:

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: 1726G>A

PubMed Link: 34220802

Variant Present in the following documents:

• DataSheet_1.pdf

View BVdb publication page

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Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants.

Jimd Reports

Limgala, Renuka Pudi RP; Furtak, Vyacheslav V; Ivanova, Margarita M MM; Changsila, Erk E; Wilks, Floyd F; Fidelia-Lambert, Marie N MN; Goker-Alpan, Ozlem O; Gondré-Lewis, Marjorie C MC

Publication Date: 2021-05

Variant appearance in text: GAA: G576S

PubMed Link: 33977031

Variant Present in the following documents:

• Main text

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: GAA: G576S; rs1800307

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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A synergetic effect of BARD1 mutations on tumorigenesis.

Nature Communications

Li, Wenjing W; Gu, Xiaoyang X; Liu, Chunhong C; Shi, Yanyan Y; Wang, Pan P; Zhang, Na N; Wu, Rui R; Leng, Liang L; Xie, Bingteng B; Song, Chen C; Li, Mo M

Publication Date: 2021-02-23

Variant appearance in text: GAA: G576S; rs1800307

PubMed Link: 33623049

Variant Present in the following documents:

• 41467_2021_21519_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.

Human Mutation

de Faria, Douglas O S DOS; 't Groen, Stijn L M In SLMI; Hoogeveen-Westerveld, Marianne M; Nino, Monica Y MY; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP

Publication Date: 2021-02

Variant appearance in text: GAA: 1726G>A; Gly576Ser; rs1800307

PubMed Link: 33560568

Variant Present in the following documents:

• Main text
• HUMU-42-119.pdf

View BVdb publication page

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Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.

Human Mutation

de Faria, Douglas O S DOS; 't Groen, Stijn L M In SLMI; Hoogeveen-Westerveld, Marianne M; Nino, Monica Y MY; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP

Publication Date: 2021-02

Variant appearance in text: GAA: 1726G>A; Gly576Ser; rs1800307

PubMed Link: 33560568

Variant Present in the following documents:

• Main text
• HUMU-42-119.pdf

View BVdb publication page

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Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.

Peerj

Guelly, Christian C; Abilova, Zhannur Z; Nuralinov, Omirbek O; Panzitt, Katrin K; Akhmetova, Ainur A; Rakhimova, Saule S; Kozhamkulov, Ulan U; Kairov, Ulykbek U; Molkenov, Askhat A; Seisenova, Ainur A; Trajanoski, Slave S; Abildinova Rashbayeva, Gulzhaina G; Kaussova, Galina G; Windpassinger, Christian C; Lee, Joseph H JH; Zhumadilov, Zhaxybay Z; Bekbossynova, Makhabbat M; Akilzhanova, Ainur A

Publication Date: 2021

Variant appearance in text: GAA: G576S

PubMed Link: 33552729

Variant Present in the following documents:

• peerj-09-10711-s004.xlsx, sheet 1
• peerj-09-10711-s004.xlsx, sheet 2

View BVdb publication page

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Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience.

European Journal Of Human Genetics : Ejhg

Niño, Monica Y MY; Wijgerde, Mark M; de Faria, Douglas Oliveira Soares DOS; Hoogeveen-Westerveld, Marianne M; Bergsma, Atze J AJ; Broeders, Mike M; van der Beek, Nadine A M E NAME; van den Hout, Hannerieke J M HJM; van der Ploeg, Ans T AT; Verheijen, Frans W FW; Pijnappel, W W M Pim WWMP

Publication Date: 2021-03

Variant appearance in text: GAA: 1726G>A; Gly576Ser

PubMed Link: 33162552

Variant Present in the following documents:

• Main text

View BVdb publication page

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Development of Strategies to Decrease False Positive Results in Newborn Screening.

International Journal Of Neonatal Screening

Malvagia, Sabrina S; Forni, Giulia G; Ombrone, Daniela D; la Marca, Giancarlo G

Publication Date: 2020-11-02

Variant appearance in text: GAA: G576S

PubMed Link: 33147868

Variant Present in the following documents:

• Main text

View BVdb publication page

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Establishing Pompe Disease Newborn Screening: The Role of Industry.

International Journal Of Neonatal Screening

Keutzer, Joan M JM

Publication Date: 2020-09

Variant appearance in text: GAA: G576S

PubMed Link: 33123636

Variant Present in the following documents:

• Main text
• IJNS-06-00055.pdf

View BVdb publication page

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Newborn Screening for Pompe Disease.

International Journal Of Neonatal Screening

Sawada, Takaaki T; Kido, Jun J; Nakamura, Kimitoshi K

Publication Date: 2020-06

Variant appearance in text: GAA: 1726G>A; G576S

PubMed Link: 33073027

Variant Present in the following documents:

• Main text

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: 1726G>A

PubMed Link: 33073009

Variant Present in the following documents:

• Main text

View BVdb publication page

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Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy.

International Journal Of Neonatal Screening

Burlina, Alberto B AB; Polo, Giulia G; Rubert, Laura L; Gueraldi, Daniela D; Cazzorla, Chiara C; Duro, Giovanni G; Salviati, Leonardo L; Burlina, Alessandro P AP

Publication Date: 2019-06

Variant appearance in text: GAA: G576S

PubMed Link: 33072983

Variant Present in the following documents:

• Main text
• IJNS-05-00024.pdf

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: G576S

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Pompe disease: pathogenesis, molecular genetics and diagnosis.

Aging

Taverna, Simona S; Cammarata, Giuseppe G; Colomba, Paolo P; Sciarrino, Serafina S; Zizzo, Carmela C; Francofonte, Daniele D; Zora, Marco M; Scalia, Simone S; Brando, Chiara C; Curto, Alessia Lo AL; Marsana, Emanuela Maria EM; Olivieri, Roberta R; Vitale, Silvia S; Duro, Giovanni G

Publication Date: 2020-08-03

Variant appearance in text: GAA: 1726G>A

PubMed Link: 32745073

Variant Present in the following documents:

• Main text
• aging-12-103794.pdf

View BVdb publication page

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Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences.

Molecular Genetics And Metabolism Reports

Chien, Yin-Hsiu YH; Tsai, Wen-Hui WH; Chang, Chaw-Liang CL; Chiu, Pao-Chin PC; Chou, Yen-Yin YY; Tsai, Fuu-Jen FJ; Wong, Siew-Lee SL; Lee, Ni-Chung NC; Hwu, Wuh-Liang WL

Publication Date: 2020-06

Variant appearance in text: GAA: G576S

PubMed Link: 32373469

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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GAA compound heterozygous mutations associated with autophagic impairment cause cerebral infarction in Pompe disease.

Aging

Jia, Xiaodong X; Shao, Libin L; Liu, Chengcheng C; Chen, Tuanzhi T; Peng, Ling L; Cao, Yinguang Y; Zhang, Chuanchen C; Yang, Xiafeng X; Zhang, Guifeng G; Gao, Jianlu J; Fan, Guangyi G; Gu, Mingliang M; Du, Hongli H; Xia, Zhangyong Z

Publication Date: 2020-03-03

Variant appearance in text: GAA: 1726G>A

PubMed Link: 32126021

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction.

International Journal Of Neonatal Screening

Hall, Patricia L PL; Sanchez, Rossana R; Hagar, Arthur F AF; Jerris, S Caleb SC; Wittenauer, Angela A; Wilcox, William R WR

Publication Date: 2020-03

Variant appearance in text: GAA: 1726G>A; Gly576Ser

PubMed Link: 32064362

Variant Present in the following documents:

• Main text

View BVdb publication page

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Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns.

Orphanet Journal Of Rare Diseases

Chien, Yin-Hsiu YH; Lee, Ni-Chung NC; Chen, Pin-Wen PW; Yeh, Hui-Ying HY; Gelb, Michael H MH; Chiu, Pao-Chin PC; Chu, Shao-Yin SY; Lee, Chen-Hao CH; Lee, An-Ru AR; Hwu, Wuh-Liang WL

Publication Date: 2020-02-03

Variant appearance in text: GAA: G576S

PubMed Link: 32014045

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1322.pdf

View BVdb publication page

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Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature.

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

Khan, Aleena A AA; Case, Laura E LE; Herbert, Mrudu M; DeArmey, Stephanie S; Jones, Harrison H; Crisp, Kelly K; Zimmerman, Kanecia K; ElMallah, Mai K MK; Young, Sarah P SP; Kishnani, Priya S PS

Publication Date: 2020-05

Variant appearance in text: GAA: 1726G>A

PubMed Link: 31904026

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pulmonary outcome measures in long-term survivors of infantile Pompe disease on enzyme replacement therapy: A case series.

Pediatric Pulmonology

ElMallah, Mai K MK; Desai, Ankit K AK; Nading, Erica B EB; DeArmey, Stephanie S; Kravitz, Richard M RM; Kishnani, Priya S PS

Publication Date: 2020-03

Variant appearance in text: GAA: 1726G>A

PubMed Link: 31899940

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: GAA: G576S

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 13

View BVdb publication page

---

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: 1726G>A; G576S

PubMed Link: 31510962

Variant Present in the following documents:

• Main text
• 12881_2019_Article_878.pdf

View BVdb publication page

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Diagnostic tools in late onset Pompe disease (LOPD).

Annals Of Translational Medicine

Musumeci, Olimpia O; Toscano, Antonio A

Publication Date: 2019-07

Variant appearance in text: GAA: 1726G>A; G576S

PubMed Link: 31392198

Variant Present in the following documents:

• Main text

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: G576S

PubMed Link: 31392193

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 1726G>A; Gly576Ser

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: 1726G>A; Gly576Ser

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: 1726G>A

PubMed Link: 31254424

Variant Present in the following documents:

• Main text
• HUMU-40-1954.pdf

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: GAA: 1726G>A; Gly576Ser

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

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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: 1726G>A

PubMed Link: 30897595

Variant Present in the following documents:

• cm9-132-805.pdf

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Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center.

Korean Journal Of Pediatrics

Kim, Min-Sun MS; Song, Ari A; Im, Minji M; Huh, June J; Kang, I-Seok IS; Song, Jinyoung J; Yang, Aram A; Kim, Jinsup J; Kwon, Eun-Kyung EK; Choi, Eu-Jin EJ; Han, Sun-Ju SJ; Park, Hyung-Doo HD; Cho, Sung Yoon SY; Jin, Dong-Kyu DK

Publication Date: 2019-06

Variant appearance in text: GAA: 1726G>A; Gly576Ser

PubMed Link: 30360039

Variant Present in the following documents:

• Main text

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Quantification of 11 enzyme activities of lysosomal storage disorders using liquid chromatography-tandem mass spectrometry.

Molecular Genetics And Metabolism Reports

Ohira, Mari M; Okuyama, Torayuki T; Mashima, Ryuichi R

Publication Date: 2018-12

Variant appearance in text: GAA: G576S

PubMed Link: 30211004

Variant Present in the following documents:

• Main text
• main.pdf

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Pompe Disease: From Basic Science to Therapy.

Neurotherapeutics : The Journal Of The American Society For Experimental Neurotherapeutics

Kohler, Lara L; Puertollano, Rosa R; Raben, Nina N

Publication Date: 2018-10

Variant appearance in text: GAA: 1726G>A; G576S

PubMed Link: 30117059

Variant Present in the following documents:

• Main text

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[Research advances in the diagnosis and treatment of Pompe disease].

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

Zhang, Xin-Tong XT; Ren, Wei-Dong WD

Publication Date: 2018-07

Variant appearance in text: GAA: 1726G>A; G576S

PubMed Link: 30022764

Variant Present in the following documents:

• Main text

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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: GAA: 1726G>A; G576S; rs1800307

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 4

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Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease.

Chinese Medical Journal

Liu, Hua-Xu HX; Pu, Chuan-Qiang CQ; Shi, Qiang Q; Zhang, Yu-Tong YT; Ban, Rui R

Publication Date: 2018-02-20

Variant appearance in text: GAA: 1726G>A

PubMed Link: 29451150

Variant Present in the following documents:

• CMJ-131-448.pdf

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Quantification of the enzyme activities of iduronate-2-sulfatase, N-acetylgalactosamine-6-sulfatase and N-acetylgalactosamine-4-sulfatase using liquid chromatography-tandem mass spectrometry.

Molecular Genetics And Metabolism Reports

Mashima, Ryuichi R; Ohira, Mari M; Okuyama, Torayuki T; Tatsumi, Akiya A

Publication Date: 2018-03

Variant appearance in text: GAA: G576S

PubMed Link: 29326871

Variant Present in the following documents:

• Main text

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs1800307

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan.

Molecular Genetics And Metabolism Reports

Fukuhara, Yasuyuki Y; Fuji, Naoko N; Yamazaki, Narutoshi N; Hirakiyama, Asami A; Kamioka, Tetsuharu T; Seo, Joo-Hyun JH; Mashima, Ryuichi R; Kosuga, Motomichi M; Okuyama, Torayuki T

Publication Date: 2018-03

Variant appearance in text: GAA: G576S

PubMed Link: 29124014

Variant Present in the following documents:

• Main text

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