GAA c.2560C>T ;(p.R854*)

Variant ID: 17-78092070-C-T

NM_000152.3(GAA):c.2560C>T;(p.R854*)

This variant was identified in 99 publications

View GRCh38 version.




Publications:


Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).

Current Issues In Molecular Biology
De Filippi, Paola P; Errichiello, Edoardo E; Toscano, Antonio A; Mongini, Tiziana T; Moggio, Maurizio M; Ravaglia, Sabrina S; Filosto, Massimiliano M; Servidei, Serenella S; Musumeci, Olimpia O; Giannini, Fabio F; Piperno, Alberto A; Siciliano, Gabriele G; Ricci, Giulia G; Di Muzio, Antonio A; Rigoldi, Miriam M; Tonin, Paola P; Croce, Michele Giovanni MG; Pegoraro, Elena E; Politano, Luisa L; Maggi, Lorenzo L; Telese, Roberta R; Lerario, Alberto A; Sancricca, Cristina C; Vercelli, Liliana L; Semplicini, Claudio C; Pasanisi, Barbara B; Bembi, Bruno B; Dardis, Andrea A; Palmieri, Ilaria I; Cereda, Cristina C; Valente, Enza Maria EM; Danesino, Cesare C
Publication Date: 2023-04-01

Variant appearance in text: GAA: Arg854X
PubMed Link: 37185710
Variant Present in the following documents:
  • Main text
  • cimb-45-00186.pdf
View BVdb publication page



Unusual Evolution of Hypertrophic Cardiomyopathy in Non-Compaction Myocardium in a Pompe Disease Patient.

Journal Of Clinical Medicine
Gragnaniello, Vincenza V; Rizzardi, Caterina C; Commone, Anna A; Gueraldi, Daniela D; Maines, Evelina E; Salviati, Leonardo L; Di Salvo, Giovanni G; Burlina, Alberto B AB
Publication Date: 2023-03-19

Variant appearance in text: GAA: 2560C>T; Arg854*
PubMed Link: 36983365
Variant Present in the following documents:
  • Main text
  • jcm-12-02365.pdf
View BVdb publication page



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: 2560C>T; Arg854Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



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: 2560C>T
PubMed Link: 36620633
Variant Present in the following documents:
  • Main text
  • fcvm-09-1061384.pdf
View BVdb publication page



Infantile Pompe disease with intrauterine onset: a case report and literature review.

Italian Journal Of Pediatrics
Xi, Hongmin H; Li, Xianghong X; Ma, Lili L; Yin, Xiangyun X; Yang, Ping P; Zhang, Lulu L
Publication Date: 2022-11-21

Variant appearance in text: GAA: Arg854X
PubMed Link: 36411466
Variant Present in the following documents:
  • Main text
  • 13052_2022_Article_1379.pdf
View BVdb publication page



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: Arg854*
PubMed Link: 36310651
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



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: 2560C>T
PubMed Link: 36299500
Variant Present in the following documents:
  • NG2021016977.pdf
View BVdb publication page



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: 2560C>T; Arg854*
PubMed Link: 35947370
Variant Present in the following documents:
  • jamacardiol-e222455-s002.xlsx, sheet 1
View BVdb publication page



A favorable outcome in an infantile-onset Pompe patient with cross reactive immunological material (CRIM) negative disease with high dose enzyme replacement therapy and adjusted immunomodulation.

Molecular Genetics And Metabolism Reports
Curelaru, Shiri S; Desai, Ankit K AK; Fink, Daniel D; Zehavi, Yoav Y; Kishnani, Priya S PS; Spiegel, Ronen R
Publication Date: 2022-09

Variant appearance in text: GAA: 2560C>T; Arg854Ter
PubMed Link: 35813979
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



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: R854X
PubMed Link: 35386406
Variant Present in the following documents:
  • Main text
  • fneur-13-839263.pdf
View BVdb publication page



Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.

Npj Genomic Medicine
Sakaguchi, Narumi N; Suyama, Mikita M
Publication Date: 2022-03-18

Variant appearance in text: GAA: ARG854TER; rs121907943
PubMed Link: 35304488
Variant Present in the following documents:
  • 41525_2022_294_MOESM1_ESM.pdf
View BVdb publication page



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: 2560C>T
PubMed Link: 35193651
Variant Present in the following documents:
  • 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: R854*; rs121907943
PubMed Link: 34922579
Variant Present in the following documents:
  • Main text
  • 13023_2021_Article_2146.pdf
View BVdb publication page



Individualized Assessment of Exercise Capacity in Response to Acute and Long-Term Enzyme Replacement Therapy in Pediatric Pompe Disease.

Journal Of Personalized Medicine
Bar-Yoseph, Ronen R; Tal, Galit G; Dumin, Elena E; Hanna, Moneera M; Mainzer, Gur G; Zucker-Toledano, Merav M; Shallufi, George G; Jahshan, Mira M; Mandel, Hanna H; Bentur, Lea L
Publication Date: 2021-10-28

Variant appearance in text: GAA: R854X
PubMed Link: 34834457
Variant Present in the following documents:
  • Main text
  • jpm-11-01105.pdf
View BVdb publication page



Design and Validation of a Custom NGS Panel Targeting a Set of Lysosomal Storage Diseases Candidate for NBS Applications.

International Journal Of Molecular Sciences
La Cognata, Valentina V; Guarnaccia, Maria M; Morello, Giovanna G; Ruggieri, Martino M; Polizzi, Agata A; Cavallaro, Sebastiano S
Publication Date: 2021-09-17

Variant appearance in text: GAA: 2560C>T; Arg854Ter
PubMed Link: 34576242
Variant Present in the following documents:
  • Main text
  • ijms-22-10064.pdf
View BVdb publication page



Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine
Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL
Publication Date: 2021-09-09

Variant appearance in text: GAA: R854*
PubMed Link: 34503567
Variant Present in the following documents:
  • 13073_2021_964_MOESM6_ESM.xlsx, sheet 1
  • 13073_2021_964_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



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: 2560C>T
PubMed Link: 34405923
Variant Present in the following documents:
  • Main text
  • HUMU-42-1461.pdf
  • HUMU-42-1461-s001.pdf
View BVdb publication page



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: 2560C>T
PubMed Link: 34220802
Variant Present in the following documents:
  • DataSheet_1.pdf
View BVdb publication page



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: 2560C>T; Arg854Ter; rs121907943
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: 2560C>T
PubMed Link: 34020684
Variant Present in the following documents:
  • Main text
  • 13023_2021_Article_1864.pdf
View BVdb publication page



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: 2560C>T; Arg854Ter
PubMed Link: 33717985
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Advances in diagnosis and management of Pompe disease.

Journal Of Mother And Child
Davison, James E JE
Publication Date: 2020-10-02

Variant appearance in text: GAA: Arg854X
PubMed Link: 33554498
Variant Present in the following documents:
  • Main text
  • jmotherandchild-24-003.pdf
View BVdb publication page



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: 2560C>T
PubMed Link: 33495531
Variant Present in the following documents:
  • Main text
  • nihms-1680101.pdf
View BVdb publication page



Modeling CNS Involvement in Pompe Disease Using Neural Stem Cells Generated from Patient-Derived Induced Pluripotent Stem Cells.

Cells
Cheng, Yu-Shan YS; Yang, Shu S; Hong, Junjie J; Li, Rong R; Beers, Jeanette J; Zou, Jizhong J; Huang, Wenwei W; Zheng, Wei W
Publication Date: 2020-12-22

Variant appearance in text: GAA: R854X
PubMed Link: 33375166
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 2560C>T
PubMed Link: 33293555
Variant Present in the following documents:
  • 41467_2020_20065_MOESM1_ESM.pdf
View BVdb publication page



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: 2560C>T
PubMed Link: 33202836
Variant Present in the following documents:
  • Main text
  • IJNS-06-00089.pdf
View BVdb publication page



High-depth African genomes inform human migration and health.

Nature
Choudhury, Ananyo A; Aron, Shaun S; Botigué, Laura R LR; Sengupta, Dhriti D; Botha, Gerrit G; Bensellak, Taoufik T; Wells, Gordon G; Kumuthini, Judit J; Shriner, Daniel D; Fakim, Yasmina J YJ; Ghoorah, Anisah W AW; Dareng, Eileen E; Odia, Trust T; Falola, Oluwadamilare O; Adebiyi, Ezekiel E; Hazelhurst, Scott S; Mazandu, Gaston G; Nyangiri, Oscar A OA; Mbiyavanga, Mamana M; Benkahla, Alia A; Kassim, Samar K SK; Mulder, Nicola N; Adebamowo, Sally N SN; Chimusa, Emile R ER; Muzny, Donna D; Metcalf, Ginger G; Gibbs, Richard A RA; , ; Rotimi, Charles C; Ramsay, Michèle M; , ; Adeyemo, Adebowale A AA; Lombard, Zané Z; Hanchard, Neil A NA
Publication Date: 2020-10

Variant appearance in text: GAA: 2560C>T; Arg854*
PubMed Link: 33116287
Variant Present in the following documents:
  • 41586_2020_2859_MOESM3_ESM.xlsx, sheet 21
View BVdb publication page



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: 2560C>T; R854*
PubMed Link: 33073027
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 2560C>T
PubMed Link: 33073009
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 2560C>T
PubMed Link: 33073007
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 2560C>T
PubMed Link: 33073003
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: R854X
PubMed Link: 33072983
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Race Against Time-Changing the Natural History of CRIM Negative Infantile Pompe Disease.

Frontiers In Immunology
Gupta, Punita P; Shayota, Brian J BJ; Desai, Ankit K AK; Kiblawi, Fuad F; Myridakis, Dorothy D; Messina, John J; Tah, Peter P; Tambini-King, Lorien L; Kishnani, Priya S PS
Publication Date: 2020

Variant appearance in text: GAA: 2560C>T; R854X
PubMed Link: 33013846
Variant Present in the following documents:
  • Main text
  • fimmu-11-01929.pdf
View BVdb publication page



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: 2560C>T
PubMed Link: 32849613
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 2560C>T
PubMed Link: 32745073
Variant Present in the following documents:
  • Main text
  • aging-12-103794.pdf
View BVdb publication page



A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia.

Heliyon
Puentes-Tellez, María Alejandra MA; Lerma-Barbosa, Paula Andrea PA; Garzón-Jaramillo, Rafael Guillermo RG; Suarez, Diego A DA; Espejo-Mojica, Angela J AJ; Guevara, Johana M JM; Echeverri, Olga Yaneth OY; Solano-Galarza, Daniela D; Uribe-Ardila, Alfredo A; Alméciga-Díaz, Carlos J CJ
Publication Date: 2020-03

Variant appearance in text: GAA: R854X
PubMed Link: 32258481
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



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: 2560C>T; Arg854*
PubMed Link: 31980526
Variant Present in the following documents:
  • pnas.1909378117.sd01.xlsx, sheet 3
View BVdb publication page



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: 2560C>T; Arg854*
PubMed Link: 31931849
Variant Present in the following documents:
  • Main text
  • 13023_2019_Article_1291.pdf
View BVdb publication page



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: 2560C>T
PubMed Link: 31899940
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.

Molecular Genetics & Genomic Medicine
Akler, Gidon G; Birch, Ashley H AH; Schreiber-Agus, Nicole N; Cai, Xiaoqiang X; Cai, Guiqing G; Shi, Lisong L; Yu, Chunli C; Larmore, Anastasia M AM; Mendiratta-Vij, Geetu G; Elkhoury, Lama L; Dillon, Mitchell W MW; Zhu, Jun J; Mclellan, Andrew S AS; Suer, Funda E FE; Webb, Bryn D BD; Schadt, Eric E EE; Kornreich, Ruth R; Edelmann, Lisa L
Publication Date: 2020-02

Variant appearance in text: GAA: 2560C>T; R854X
PubMed Link: 31880409
Variant Present in the following documents:
  • MGG3-8-e1053-s001.xlsx, sheet 1
  • MGG3-8-e1053-s002.xlsx, sheet 1
View BVdb publication page



iPSC-Derived Hepatocytes as a Platform for Disease Modeling and Drug Discovery.

Frontiers In Medicine
Corbett, James L JL; Duncan, Stephen A SA
Publication Date: 2019

Variant appearance in text: GAA: R854X
PubMed Link: 31803747
Variant Present in the following documents:
  • Main text
  • fmed-06-00265.pdf
View BVdb publication page



The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature
,
Publication Date: 2019-12

Variant appearance in text: GAA: 2560C>T; Arg854Ter; rs121907943
PubMed Link: 31802016
Variant Present in the following documents:
  • 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15
  • 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
View BVdb publication page



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: 2560C>T; Arg854*; rs121907943
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



Immunological challenges and approaches to immunomodulation in Pompe disease: a literature review.

Annals Of Translational Medicine
Desai, Ankit K AK; Li, Cindy C; Rosenberg, Amy S AS; Kishnani, Priya S PS
Publication Date: 2019-07

Variant appearance in text: GAA: 2560C>T
PubMed Link: 31392197
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 2560C>T; R854*
PubMed Link: 31392190
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 2560C>T; Arg854Ter
PubMed Link: 31342611
Variant Present in the following documents:
  • HUMU-40-2146-s001.pdf
  • HUMU-40-2146.pdf
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