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: 655G>A

PubMed Link: 37087497

Variant Present in the following documents:

• 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1

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: 655G>A; Gly219Arg

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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Genomic evolution towards azole resistance in Candida glabrata clinical isolates unveils the importance of CgHxt4/6/7 in azole accumulation.

Communications Biology

Galocha, Mónica M; Viana, Romeu R; Pais, Pedro P; Silva-Dias, Ana A; Cavalheiro, Mafalda M; Miranda, Isabel M IM; Van Ende, Mieke M; Souza, Caio S CS; Costa, Catarina C; Branco, Joana J; Soares, Cláudio M CM; Van Dijck, Patrick P; Rodrigues, Acácio G AG; Teixeira, Miguel C MC

Publication Date: 2022-10-21

Variant appearance in text: GAA: 655G>A

PubMed Link: 36271293

Variant Present in the following documents:

• 42003_2022_4087_MOESM4_ESM.xlsx, sheet 5

View BVdb publication page

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Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening.

Frontiers In Genetics

Goomber, Shelly S; Huggins, Erin E; Rehder, Catherine W CW; Cohen, Jennifer L JL; Bali, Deeksha S DS; Kishnani, Priya S PS

Publication Date: 2022

Variant appearance in text: GAA: 655G>A; Gly219Arg

PubMed Link: 36246652

Variant Present in the following documents:

• Main text
• fgene-13-1001154.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: 655G>A; Gly219Arg

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

View BVdb publication page

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Comprehensive genomic and tumour immune profiling reveals potential therapeutic targets in malignant pleural mesothelioma.

Genome Medicine

Creaney, Jenette J; Patch, Ann-Marie AM; Addala, Venkateswar V; Sneddon, Sophie A SA; Nones, Katia K; Dick, Ian M IM; Lee, Y C Gary YCG; Newell, Felicity F; Rouse, Ebony J EJ; Naeini, Marjan M MM; Kondrashova, Olga O; Lakis, Vanessa V; Nakas, Apostolos A; Waller, David D; Sharkey, Annabel A; Mukhopadhyay, Pamela P; Kazakoff, Stephen H SH; Koufariotis, Lambros T LT; Davidson, Aimee L AL; Ramarao-Milne, Priya P; Holmes, Oliver O; Xu, Qinying Q; Leonard, Conrad C; Wood, Scott S; Grimmond, Sean M SM; Bueno, Raphael R; Fennell, Dean A DA; Pearson, John V JV; Robinson, Bruce W BW; Waddell, Nicola N

Publication Date: 2022-05-30

Variant appearance in text: GAA: 655G>A

PubMed Link: 35637530

Variant Present in the following documents:

• 13073_2022_1060_MOESM4_ESM.xlsx, sheet 1

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: 655G>A

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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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: N/A

PubMed Link: 35081118

Variant Present in the following documents:

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: N/A

PubMed Link: 35081118

Variant Present in the following documents:

View BVdb publication page

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Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.

European Journal Of Human Genetics : Ejhg

Schröter, Julian J; Popp, Bernt B; Brennenstuhl, Heiko H; Döring, Jan H JH; Donze, Stephany H SH; Bijlsma, Emilia K EK; van Haeringen, Arie A; Huhle, Dagmar D; Jestaedt, Leonie L; Merkenschlager, Andreas A; Arelin, Maria M; Gräfe, Daniel D; Neuser, Sonja S; Oates, Stephanie S; Pal, Deb K DK; Parker, Michael J MJ; Lemke, Johannes R JR; Hoffmann, Georg F GF; Kölker, Stefan S; Harting, Inga I; Syrbe, Steffen S

Publication Date: 2022-03

Variant appearance in text: GAA: 655G>A

PubMed Link: 35017693

Variant Present in the following documents:

• 41431_2021_1027_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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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: G219R

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

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Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots.

Journal Of Clinical Medicine

Thuriot, Fanny F; Gravel, Elaine E; Hodson, Katherine K; Ganopolsky, Jorge J; Rakic, Bojana B; Waters, Paula J PJ; Gravel, Serge S; Lévesque, Sébastien S

Publication Date: 2021-08-28

Variant appearance in text: GAA: 655G>A; Gly219Arg

PubMed Link: 34501319

Variant Present in the following documents:

• Main text
• jcm-10-03868.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: 655G>A; Gly219Arg

PubMed Link: 34356580

Variant Present in the following documents:

• Main text

View BVdb publication page

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Different Approaches to Analyze Muscle Fat Replacement With Dixon MRI in Pompe Disease.

Frontiers In Neurology

Alonso-Jiménez, Alicia A; Nuñez-Peralta, Claudia C; Montesinos, Paula P; Alonso-Pérez, Jorge J; García, Carme C; Montiel, Elena E; Belmonte, Izaskun I; Pedrosa, Irene I; Segovia, Sonia S; Llauger, Jaume J; Díaz-Manera, Jordi J

Publication Date: 2021

Variant appearance in text: GAA: 655G>A

PubMed Link: 34305788

Variant Present in the following documents:

• Main text
• fneur-12-675781.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: 655G>A

PubMed Link: 34220802

Variant Present in the following documents:

• DataSheet_1.pdf

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: 655G>A; Gly219Arg; rs370950728

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: 655G>A; Gly219Arg

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: 655G>A; Gly219Arg

PubMed Link: 33717985

Variant Present in the following documents:

• mmc1.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: 655G>A; Gly219Arg

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: 655G>A; Gly219Arg

PubMed Link: 33560568

Variant Present in the following documents:

• Main text
• HUMU-42-119.pdf

View BVdb publication page

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K-Ras-Activated Cells Can Develop into Lung Tumors When Runx3-Mediated Tumor Suppressor Pathways Are Abrogated.

Molecules And Cells

Lee, You-Soub YS; Lee, Ja-Yeol JY; Song, Soo-Hyun SH; Kim, Da-Mi DM; Lee, Jung-Won JW; Chi, Xin-Zi XZ; Ito, Yoshiaki Y; Bae, Suk-Chul SC

Publication Date: 2020-10-31

Variant appearance in text: GAA: 655G>A

PubMed Link: 33115981

Variant Present in the following documents:

• molce-43-889_Supple.xlsx, sheet 1

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: 655G>A

PubMed Link: 33073003

Variant Present in the following documents:

• Main text
• IJNS-06-00004.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: G219R

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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Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort.

Molecular Genetics And Metabolism Reports

Piraud, Monique M; Pettazzoni, Magali M; de Antonio, Marie M; Vianey-Saban, Christine C; Froissart, Roseline R; Chabrol, Brigitte B; Young, Sarah S; Laforêt, Pascal P; ,

Publication Date: 2020-06

Variant appearance in text: GAA: Gly219Arg

PubMed Link: 32382504

Variant Present in the following documents:

• Main text
• main.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: 655G>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: 655G>A

PubMed Link: 31899940

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: 655G>A

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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Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.

Scientific Reports

Marín, Òscar Ò; Aguirre, Josu J; de la Cruz, Xavier X

Publication Date: 2019-07-02

Variant appearance in text: GAA: G219R

PubMed Link: 31267011

Variant Present in the following documents:

• 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy.

Molecular Genetics And Metabolism Reports

Desai, Ankit K AK; Kazi, Zoheb B ZB; Bali, Deeksha S DS; Kishnani, Priya S PS

Publication Date: 2019-09

Variant appearance in text: GAA: 655G>A; Gly219Arg

PubMed Link: 31193175

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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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: 655G>A; Gly219Arg

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.

Annals Of Clinical And Translational Neurology

Nallamilli, Babi Ramesh Reddy BRR; Chakravorty, Samya S; Kesari, Akanchha A; Tanner, Alice A; Ankala, Arunkanth A; Schneider, Thomas T; da Silva, Cristina C; Beadling, Randall R; Alexander, John J JJ; Askree, Syed Hussain SH; Whitt, Zachary Z; Bean, Lora L; Collins, Christin C; Khadilkar, Satish S; Gaitonde, Pradnya P; Dastur, Rashna R; Wicklund, Matthew M; Mozaffar, Tahseen T; Harms, Matthew M; Rufibach, Laura L; Mittal, Plavi P; Hegde, Madhuri M

Publication Date: 2018-12

Variant appearance in text: GAA: 655G>A; G219R

PubMed Link: 30564623

Variant Present in the following documents:

• Main text
• ACN3-5-1574.pdf

View BVdb publication page

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

Molecular Genetics And Metabolism Reports

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

Publication Date: 2018-06

Variant appearance in text: GAA: 655G>A; Gly219Arg

PubMed Link: 30023291

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection.

Genes

Mustafa, Abeer E AE; Faquih, Tariq T; Baz, Batoul B; Kattan, Rana R; Al-Issa, Abdulelah A; Tahir, Asma I AI; Imtiaz, Faiqa F; Ramzan, Khushnooda K; Al-Sayed, Moeenaldeen M; Alowain, Mohammed M; Al-Hassnan, Zuhair Z; Al-Zaidan, Hamad H; Abouelhoda, Mohamed M; Al-Mubarak, Bashayer R BR; Al Tassan, Nada A NA

Publication Date: 2018-05-22

Variant appearance in text: GAA: 655G>A; G219R

PubMed Link: 29789446

Variant Present in the following documents:

• Main text
• genes-09-00267.pdf

View BVdb publication page

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Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation.

Molecular Genetics And Metabolism

Desai, Ankit K AK; Walters, Crista K CK; Cope, Heidi L HL; Kazi, Zoheb B ZB; DeArmey, Stephanie M SM; Kishnani, Priya S PS

Publication Date: 2018-02

Variant appearance in text: GAA: 655G>A

PubMed Link: 29289479

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs370950728

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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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: 655G>A; G219R

PubMed Link: 29124014

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.

Molecular Genetics And Metabolism

Mori, Mari M; Haskell, Gloria G; Kazi, Zoheb Z; Zhu, Xiaolin X; DeArmey, Stephanie M SM; Goldstein, Jennifer L JL; Bali, Deeksha D; Rehder, Catherine C; Cirulli, Elizabeth T ET; Kishnani, Priya S PS

Publication Date: 2017-12

Variant appearance in text: GAA: 655G>A; Gly219Arg

PubMed Link: 29122469

Variant Present in the following documents:

• Main text

View BVdb publication page

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

Nature Communications

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

Publication Date: 2017-10-24

Variant appearance in text: GAA: G219R

PubMed Link: 29061980

Variant Present in the following documents:

• 41467_2017_1263_MOESM1_ESM.pdf

View BVdb publication page

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The population genetics of human disease: The case of recessive, lethal mutations.

Plos Genetics

Amorim, Carlos Eduardo G CEG; Gao, Ziyue Z; Baker, Zachary Z; Diesel, José Francisco JF; Simons, Yuval B YB; Haque, Imran S IS; Pickrell, Joseph J; Przeworski, Molly M

Publication Date: 2017-09

Variant appearance in text: GAA: 655G>A; Gly219Arg; rs370950728

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

View BVdb publication page

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: GAA: G219R

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function.

Plos One

Figueroa-Bonaparte, Sebastián S; Segovia, Sonia S; Llauger, Jaume J; Belmonte, Izaskun I; Pedrosa, Irene I; Alejaldre, Aída A; Mayos, Mercè M; Suárez-Cuartín, Guillermo G; Gallardo, Eduard E; Illa, Isabel I; Díaz-Manera, Jordi J; ,

Publication Date: 2016

Variant appearance in text: GAA: 655G>A

PubMed Link: 27711114

Variant Present in the following documents:

• Main text
• pone.0163493.pdf

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

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

Publication Date: 2015-07-25

Variant appearance in text: GAA: G219R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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

Journal Of Pediatric Ophthalmology And Strabismus

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

Publication Date: 2014

Variant appearance in text: GAA: 655G>A; Gly219Arg

PubMed Link: 25139343

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pompe disease: literature review and case series.

Neurologic Clinics

Dasouki, Majed M; Jawdat, Omar O; Almadhoun, Osama O; Pasnoor, Mamatha M; McVey, April L AL; Abuzinadah, Ahmad A; Herbelin, Laura L; Barohn, Richard J RJ; Dimachkie, Mazen M MM

Publication Date: 2014-08

Variant appearance in text: GAA: 655G>A; G219R

PubMed Link: 25037089

Variant Present in the following documents:

• Main text

View BVdb publication page

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Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy.

Orphanet Journal Of Rare Diseases

Prater, Sean N SN; Patel, Trusha T TT; Buckley, Anne F AF; Mandel, Hanna H; Vlodavski, Eugene E; Banugaria, Suhrad G SG; Feeney, Erin J EJ; Raben, Nina N; Kishnani, Priya S PS

Publication Date: 2013-06-20

Variant appearance in text: GAA: 655G>A; Gly219Arg

PubMed Link: 23787031

Variant Present in the following documents:

• Main text
• 1750-1172-8-90.pdf

View BVdb publication page

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B-Cell depletion and immunomodulation before initiation of enzyme replacement therapy blocks the immune response to acid alpha-glucosidase in infantile-onset Pompe disease.

The Journal Of Pediatrics

Elder, Melissa E ME; Nayak, Sushrusha S; Collins, Shelley W SW; Lawson, Lee Ann LA; Kelley, Jeffry S JS; Herzog, Roland W RW; Modica, Renee F RF; Lew, Judy J; Lawrence, Robert M RM; Byrne, Barry J BJ

Publication Date: 2013-09

Variant appearance in text: GAA: 655G>A; Gly219Arg

PubMed Link: 23601496

Variant Present in the following documents:

• Main text

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