Publications:

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LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation.

Frontiers In Genetics

Cesar, Sergi S; Coll, Monica M; Fiol, Victoria V; Fernandez-Falgueras, Anna A; Cruzalegui, Jose J; Iglesias, Anna A; Moll, Isaac I; Perez-Serra, Alexandra A; Martínez-Barrios, Estefanía E; Ferrer-Costa, Carles C; Del Olmo, Bernat B; Puigmulè, Marta M; Alcalde, Mireia M; Lopez, Laura L; Pico, Ferran F; Berrueco, Rubén R; Brugada, Josep J; Zschaeck, Irene I; Natera-de Benito, Daniel D; Carrera-García, Laura L; Exposito-Escudero, Jessica J; Ortez, Carlos C; Nascimento, Andrés A; Brugada, Ramon R; Sarquella-Brugada, Georgia G; Campuzano, Oscar O

Publication Date: 2023

Variant appearance in text: GAA: 2238G>C

PubMed Link: 37035729

Variant Present in the following documents:

• fgene-14-1135438.pdf

View BVdb publication page

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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: 2238G>C; Trp746Cys

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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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: 2238G>C; Trp746Cys

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: 2238G>C

PubMed Link: 36299500

Variant Present in the following documents:

• NG2021016977.pdf

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: 2238G>C; W746C

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: Trp746Cys

PubMed Link: 36105079

Variant Present in the following documents:

• Main text
• fgene-13-932760.pdf

View BVdb publication page

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Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology

Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM

Publication Date: 2022-09-01

Variant appearance in text: GAA: 2238G>C; Trp746Cys

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

View BVdb publication page

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Late-onset Pompe disease with a novel mutation and a rare phenotype: A case report.

Cns Neuroscience & Therapeutics

Si, Xiaoli X; Zhang, Ruoxia R; Yan, Shengqiang S; Zhao, Guohua G; Yin, Xinzhen X; Zhang, Baorong B

Publication Date: 2022-10

Variant appearance in text: GAA: 2238G>C; W746C

PubMed Link: 35795986

Variant Present in the following documents:

• Main text
• CNS-28-1651.pdf

View BVdb publication page

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Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Nature Communications

Cong, Pei-Kuan PK; Bai, Wei-Yang WY; Li, Jin-Chen JC; Yang, Meng-Yuan MY; Khederzadeh, Saber S; Gai, Si-Rui SR; Li, Nan N; Liu, Yu-Heng YH; Yu, Shi-Hui SH; Zhao, Wei-Wei WW; Liu, Jun-Quan JQ; Sun, Yi Y; Zhu, Xiao-Wei XW; Zhao, Pian-Pian PP; Xia, Jiang-Wei JW; Guan, Peng-Lin PL; Qian, Yu Y; Tao, Jian-Guo JG; Xu, Lin L; Tian, Geng G; Wang, Ping-Yu PY; Xie, Shu-Yang SY; Qiu, Mo-Chang MC; Liu, Ke-Qi KQ; Tang, Bei-Sha BS; Zheng, Hou-Feng HF

Publication Date: 2022-05-26

Variant appearance in text: GAA: 2238G>C; W746C; rs1800312

PubMed Link: 35618720

Variant Present in the following documents:

• 41467_2022_30526_MOESM5_ESM.xlsx, sheet 1

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: 2238G>C; Trp746Cys

PubMed Link: 35386406

Variant Present in the following documents:

• Main text
• fneur-13-839263.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: GAA: 2238G>C

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Waks, Adrienne G AG; Kim, Dewey D; Jain, Esha E; Snow, Craig C; Kirkner, Gregory J GJ; Rosenberg, Shoshana M SM; Oh, Coyin C; Poorvu, Philip D PD; Ruddy, Kathryn J KJ; Tamimi, Rulla M RM; Peppercorn, Jeffrey J; Schapira, Lidia L; Borges, Virginia F VF; Come, Steven E SE; Brachtel, Elena F EF; Warner, Ellen E; Collins, Laura C LC; Partridge, Ann H AH; Wagle, Nikhil N

Publication Date: 2022-06-01

Variant appearance in text: GAA: W746C

PubMed Link: 35101884

Variant Present in the following documents:

• ccr-21-2572_supplementary_table_s6_supps6.xls, sheet 1

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: 2238G>C; W746C

PubMed Link: 35071497

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: W746C; rs1800312

PubMed Link: 34922579

Variant Present in the following documents:

• Main text
• 13023_2021_Article_2146.pdf

View BVdb publication page

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Integrative analysis reveals clinically relevant molecular fingerprints in pancreatic cancer.

Molecular Therapy. Nucleic Acids

Song, Libin L; Qi, Simin S; Hu, Wei W; Fang, Zhixiao Z; Yu, Dehua D; Liu, Teng T; Wu, Jingni J; Wu, Yangjun Y; Wu, Aiwei A; Feng, Lanyun L; Xie, Jing J; Zhang, Bo B; He, Wenguang W; Ning, Zhouyu Z; Liu, Luming L; Qin, Jiang-Jiang JJ; Li, Shengli S

Publication Date: 2021-12-03

Variant appearance in text: GAA: W746C; rs1800312

PubMed Link: 34513290

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Broad variation in phenotypes for common GAA genotypes in Pompe disease.

Human Mutation

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

Publication Date: 2021-11

Variant appearance in text: GAA: 2238G>C

PubMed Link: 34405923

Variant Present in the following documents:

• Main text
• HUMU-42-1461.pdf
• HUMU-42-1461-s001.pdf

View BVdb publication page

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Two Approaches for a Genetic Analysis of Pompe Disease: A Literature Review of Patients with Pompe Disease and Analysis Based on Genomic Data from the General Population.

Children (Basel, Switzerland)

Park, Kyung-Sun KS

Publication Date: 2021-07-16

Variant appearance in text: GAA: 2238G>C; Trp746Cys

PubMed Link: 34356580

Variant Present in the following documents:

• Main text

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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CXCL10 potentiates immune checkpoint blockade therapy in homologous recombination-deficient tumors.

Theranostics

Shi, Zhiwen Z; Shen, Jianfeng J; Qiu, Junjun J; Zhao, Qingguo Q; Hua, Keqin K; Wang, Hongyan H

Publication Date: 2021

Variant appearance in text: GAA: 2238G>C; W746C

PubMed Link: 34158843

Variant Present in the following documents:

• thnov11p7175s3.xlsx, sheet 1

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: 2238G>C; Trp746Cys; rs1800312

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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Genotype-phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants.

Orphanet Journal Of Rare Diseases

Hernández-Arévalo, Paula P; Santotoribio, José D JD; Delarosa-Rodríguez, Rocío R; González-Meneses, Antonio A; García-Morillo, Salvador S; Jiménez-Arriscado, Pilar P; Guerrero, Juan M JM; Macher, Hada C HC

Publication Date: 2021-05-21

Variant appearance in text: GAA: 2238G>C

PubMed Link: 34020684

Variant Present in the following documents:

• Main text
• 13023_2021_Article_1864.pdf

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: 2238G>C; Trp746Cys

PubMed Link: 33717985

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel.

Diagnostics (Basel, Switzerland)

Sudrié-Arnaud, Bénédicte B; Snanoudj, Sarah S; Dabaj, Ivana I; Dranguet, Hélène H; Abily-Donval, Lenaig L; Lebas, Axel A; Vezain, Myriam M; Héron, Bénédicte B; Marie, Isabelle I; Duval-Arnould, Marc M; Marret, Stéphane S; Tebani, Abdellah A; Bekri, Soumeya S

Publication Date: 2021-02-12

Variant appearance in text: GAA: 2238G>C; Trp746Cys

PubMed Link: 33673364

Variant Present in the following documents:

• Main text

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: W746C

PubMed Link: 33552729

Variant Present in the following documents:

• Main text
• peerj-09-10711-s004.xlsx, sheet 1
• peerj-09-10711-s013.pdf
• peerj-09-10711.pdf

View BVdb publication page

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Newborn Screening for Pompe Disease: Pennsylvania Experience.

International Journal Of Neonatal Screening

Ficicioglu, Can C; Ahrens-Nicklas, Rebecca C RC; Barch, Joshua J; Cuddapah, Sanmati R SR; DiBoscio, Brenda S BS; DiPerna, James C JC; Gordon, Patricia L PL; Henderson, Nadene N; Menello, Caitlin C; Luongo, Nicole N; Ortiz, Damara D; Xiao, Rui R

Publication Date: 2020-11-13

Variant appearance in text: GAA: 2238G>C

PubMed Link: 33202836

Variant Present in the following documents:

• Main text
• IJNS-06-00089.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: 2238G>C

PubMed Link: 33073027

Variant Present in the following documents:

• Main text

View BVdb publication page

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The First Year Experience of Newborn Screening for Pompe Disease in California.

International Journal Of Neonatal Screening

Tang, Hao H; Feuchtbaum, Lisa L; Sciortino, Stanley S; Matteson, Jamie J; Mathur, Deepika D; Bishop, Tracey T; Olney, Richard S RS

Publication Date: 2020-03

Variant appearance in text: GAA: 2238G>C

PubMed Link: 33073007

Variant Present in the following documents:

• Main text

View BVdb publication page

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Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants.

International Journal Of Neonatal Screening

Burton, Barbara K BK; Charrow, Joel J; Hoganson, George E GE; Fleischer, Julie J; Grange, Dorothy K DK; Braddock, Stephen R SR; Hitchins, Lauren L; Hickey, Rachel R; Christensen, Katherine M KM; Groepper, Daniel D; Shryock, Heather H; Smith, Pamela P; Shao, Rong R; Basheeruddin, Khaja K

Publication Date: 2020-03

Variant appearance in text: GAA: 2238G>C

PubMed Link: 33073003

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: W746C

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: W746C

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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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: GAA: 2238G>C; W746C

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9
• 41467_2020_16067_MOESM23_ESM.xlsx, sheet 1

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: 2238G>C; Trp746Cys

PubMed Link: 32126021

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 2238G>C; Trp746Cys

PubMed Link: 32064362

Variant Present in the following documents:

• Main text

View BVdb publication page

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Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT

Publication Date: 2020-02-11

Variant appearance in text: GAA: 2238G>C; Trp746Cys

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

View BVdb publication page

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A novel compound heterozygous GAA mutation in a Chinese family with juvenile onset form of Pompe disease with cardiomyopathy.

International Journal Of Clinical And Experimental Pathology

Xu, Lingling L; Zhang, Lidan L; Zhong, Liangying L; Huang, Xueqiong X; Li, Suping S; Cheng, Yucai Y; Liang, Yujian Y; Pei, Yuxin Y; Huang, Huimin H; Tang, Wen W; Zhang, Cheng C

Publication Date: 2017

Variant appearance in text: GAA: 2238G>C; W746C

PubMed Link: 31966564

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.

Orphanet Journal Of Rare Diseases

Bevilacqua, Jorge A JA; Guecaimburu Ehuletche, Maria Del Rosario MDR; Perna, Abayuba A; Dubrovsky, Alberto A; Franca, Marcondes C MC; Vargas, Steven S; Hegde, Madhuri M; Claeys, Kristl G KG; Straub, Volker V; Daba, Nadia N; Faria, Roberta R; Periquet, Magali M; Sparks, Susan S; Thibault, Nathan N; Araujo, Roberto R

Publication Date: 2020-01-13

Variant appearance in text: GAA: 2238G>C; Trp746Cys

PubMed Link: 31931849

Variant Present in the following documents:

• Main text
• 13023_2019_Article_1291.pdf

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: GAA: 2238G>C; Trp746Cys; rs1800312

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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: 2238G>C; W746C

PubMed Link: 31392190

Variant Present in the following documents:

• Main text

View BVdb publication page

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Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease.

Annals Of Translational Medicine

Alandy-Dy, Jousef J; Wencel, Marie M; Hall, Kathy K; Simon, Julie J; Chen, Yanjun Y; Valenti, Erik E; Yang, Jade J; Bali, Deeksha D; Lakatos, Anita A; Goyal, Namita N; Mozaffar, Tahseen T; Kimonis, Virginia V

Publication Date: 2019-07

Variant appearance in text: GAA: 2238G>C

PubMed Link: 31392188

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: 2238G>C; Trp746Cys

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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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: 2238G>C

PubMed Link: 31254424

Variant Present in the following documents:

• Main text

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: GAA: W746C

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 24

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Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.

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

Kishnani, Priya S PS; Gibson, James B JB; Gambello, Michael J MJ; Hillman, Richard R; Stockton, David W DW; Kronn, David D; Leslie, Nancy D ND; Pena, Loren D M LDM; Tanpaiboon, Pranoot P; Day, John W JW; Wang, Raymond Y RY; Goldstein, Jennifer L JL; An Haack, Kristina K; Sparks, Susan E SE; Zhao, Yang Y; Hahn, Si Houn SH; ,

Publication Date: 2019-11

Variant appearance in text: GAA: 2238G>C; W746C

PubMed Link: 31086307

Variant Present in the following documents:

• Main text
• 41436_2019_Article_527.pdf

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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: 2238G>C; W746C

PubMed Link: 30943998

Variant Present in the following documents:

• Main text

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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: 2238G>C; Trp746Cys

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

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The Korean undiagnosed diseases program: lessons from a one-year pilot project.

Orphanet Journal Of Rare Diseases

Kim, Soo Yeon SY; Lim, Byung Chan BC; Lee, Jin Sook JS; Kim, Woo Joong WJ; Kim, Hyuna H; Ko, Jung Min JM; Kim, Ki Joong KJ; Choi, Sun Ah SA; Kim, Hunmin H; Hwang, Hee H; Choi, Ji Eun JE; Cho, Anna A; Moon, Jangsup J; Seong, Moon Woo MW; Park, Sung Sup SS; Lee, Yun Jeong YJ; Kim, Young Ok YO; Kim, Jon Soo JS; Kim, Won Seop WS; Kwon, Young Se YS; Park, June Dong JD; Ahn, Younjhin Y; Hwang, Joo-Yeon JY; Park, Hyun-Young HY; Lee, Youngha Y; Choi, Murim M; Chae, Jong-Hee JH

Publication Date: 2019-03-20

Variant appearance in text: GAA: 2238G>C

PubMed Link: 30894207

Variant Present in the following documents:

• Main text
• 13023_2019_Article_1041.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: 2238G>C; Trp746Cys

PubMed Link: 30360039

Variant Present in the following documents:

• Main text
• kjp-2018-06968.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: 2238G>C

PubMed Link: 30275481

Variant Present in the following documents:

• 41431_2018_253_MOESM10_ESM.xlsx, sheet 1

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The prognostic effects of somatic mutations in ER-positive breast cancer.

Nature Communications

Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ

Publication Date: 2018-09-04

Variant appearance in text: GAA: W746C

PubMed Link: 30181556

Variant Present in the following documents:

• 41467_2018_5914_MOESM4_ESM.xlsx, sheet 1

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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: 2238G>C; W746C

PubMed Link: 30022764

Variant Present in the following documents:

• Main text

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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: 2238G>C; W746C

PubMed Link: 29451150

Variant Present in the following documents:

• CMJ-131-448.pdf

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