Publications:

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Rickettsia felis DNA recovered from a child who lived in southern Africa 2000 years ago.

Communications Biology

Rifkin, Riaan F RF; Vikram, Surendra S; Alcorta, Jaime J; Ramond, Jean-Baptiste JB; Cowan, Don A DA; Jakobsson, Mattias M; Schlebusch, Carina M CM; Lombard, Marlize M

Publication Date: 2023-03-03

Variant appearance in text: GAA: 307T>G

PubMed Link: 36869137

Variant Present in the following documents:

• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 8

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: 307T>G; Cys103Gly

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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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: 307T>G

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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Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic Laboratory.

Metabolites

Saville, Jennifer T JT; Fuller, Maria M

Publication Date: 2021-07-08

Variant appearance in text: GAA: 307T>G

PubMed Link: 34357340

Variant Present in the following documents:

• Main text
• metabolites-11-00446.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: 307T>G

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: 307T>G; Cys103Gly; rs398123174

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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Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease.

Life (Basel, Switzerland)

Gal, Aniko A; Grosz, Zoltán Z; Borsos, Beata B; Szatmari, Ildikó I; Sebők, Agnes A; Jávor, Laszló L; Harmath, Veronika V; Szakszon, Katalin K; Dezsi, Livia L; Balku, Eniko E; Jobbagy, Zita Z; Herczegfalvi, Agnes A; Almássy, Zsuzsanna Z; Kerényi, Levente L; Molnar, Maria Judit MJ

Publication Date: 2021-05-31

Variant appearance in text: GAA: 307T>G; Cys103Gly; rs398123174

PubMed Link: 34072668

Variant Present in the following documents:

• Main text

View BVdb publication page

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Function, structure and quality of striated muscles in the lower extremities in patients with late onset Pompe Disease-an MRI study.

Peerj

Vaeggemose, Michael M; Mencagli, Rosa Andersen RA; Hansen, Julie Schjødtz JS; Dräger, Bianca B; Ringgaard, Steffen S; Vissing, John J; Andersen, Henning H

Publication Date: 2021

Variant appearance in text: GAA: 307T>G

PubMed Link: 33996274

Variant Present in the following documents:

• Main text
• peerj-09-10928.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: 307T>G; Cys103Gly

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: 307T>G; Cys103Gly

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: 307T>G; Cys103Gly

PubMed Link: 33560568

Variant Present in the following documents:

• Main text
• HUMU-42-119.pdf

View BVdb publication page

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Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry

Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ

Publication Date: 2021-09

Variant appearance in text: GAA: C103G

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

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: 307T>G; C103G

PubMed Link: 33073027

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: 307T>G

PubMed Link: 33073003

Variant Present in the following documents:

• Main text
• IJNS-06-00004.pdf

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: Cys103Gly

PubMed Link: 32382504

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications

Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B

Publication Date: 2020-04-09

Variant appearance in text: GAA: C103G

PubMed Link: 32273506

Variant Present in the following documents:

• 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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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: 307T>G

PubMed Link: 31392197

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: 307T>G; Cys103Gly

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: C103G

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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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: 307T>G; C103G

PubMed Link: 31086307

Variant Present in the following documents:

• Main text
• 41436_2019_Article_527.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: 307T>G; Cys103Gly

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Decreased outlet angle of the superior cerebellar artery as indicator for dolichoectasia in late onset Pompe disease.

Orphanet Journal Of Rare Diseases

Hensel, Ole O; Schneider, Ilka I; Wieprecht, Mathias M; Kraya, Torsten T; Zierz, Stephan S

Publication Date: 2018-04-13

Variant appearance in text: GAA: C103G

PubMed Link: 29653542

Variant Present in the following documents:

• 13023_2018_Article_794.pdf

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: C103G

PubMed Link: 29061980

Variant Present in the following documents:

• 41467_2017_1263_MOESM1_ESM.pdf

View BVdb publication page

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Skeletal muscle metabolism during prolonged exercise in Pompe disease.

Endocrine Connections

Preisler, Nicolai N; Laforêt, Pascal P; Madsen, Karen Lindhardt KL; Husu, Edith E; Vissing, Christoffer Rasmus CR; Hedermann, Gitte G; Galbo, Henrik H; Lindberg, Christopher C; Vissing, John J

Publication Date: 2017-08

Variant appearance in text: GAA: C103G

PubMed Link: 28490439

Variant Present in the following documents:

• Main text
• ec-6-384.pdf

View BVdb publication page

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

Clinical Chemistry

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

Publication Date: 2017-04

Variant appearance in text: GAA: C103G

PubMed Link: 28196920

Variant Present in the following documents:

• Main text

View BVdb publication page

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Enzyme replacement therapy and antibodies in late-onset Pompe disease.

Molecular Genetics And Metabolism Reports

Schneider, I I; Deschauer, M M; Hanisch, F F

Publication Date: 2014

Variant appearance in text: GAA: C103G

PubMed Link: 27896092

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Childhood Pompe disease: clinical spectrum and genotype in 31 patients.

Orphanet Journal Of Rare Diseases

van Capelle, C I CI; van der Meijden, J C JC; van den Hout, J M P JM; Jaeken, J J; Baethmann, M M; Voit, T T; Kroos, M A MA; Derks, T G J TG; Rubio-Gozalbo, M E ME; Willemsen, M A MA; Lachmann, R H RH; Mengel, E E; Michelakakis, H H; de Jongste, J C JC; Reuser, A J J AJ; van der Ploeg, A T AT

Publication Date: 2016-05-18

Variant appearance in text: GAA: 307T>G

PubMed Link: 27189384

Variant Present in the following documents:

• 13023_2016_Article_442.pdf

View BVdb publication page

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Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report.

Jimd Reports

Mori, Mari M; Bailey, Lauren A LA; Estrada, Januario J; Rehder, Catherine W CW; Li, Jennifer S JS; Rogers, Joseph G JG; Bali, Deeksha S DS; Buckley, Anne F AF; Kishnani, Priya S PS

Publication Date: 2017

Variant appearance in text: GAA: Cys103Gly

PubMed Link: 27142047

Variant Present in the following documents:

• Main text

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: C103G

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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Autophagy in Natural History and After ERT in Glycogenosis Type II.

Jimd Reports

Angelini, Corrado C; Nascimbeni, Anna C AC; Fanin, Marina M

Publication Date: 2015

Variant appearance in text: GAA: C103G

PubMed Link: 25712382

Variant Present in the following documents:

• Main text

View BVdb publication page

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Morphology and function of cerebral arteries in adults with pompe disease.

Jimd Reports

Hensel, Ole O; Hanisch, F F; Stock, K K; Stoevesandt, D D; Deschauer, M M; Müller, T T

Publication Date: 2015

Variant appearance in text: GAA: Cys103Gly

PubMed Link: 25614309

Variant Present in the following documents:

• Main text

View BVdb publication page

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Newborn screening for lysosomal storage disorders in hungary.

Jimd Reports

Wittmann, Judit J; Karg, Eszter E; Turi, Sàndor S; Legnini, Elisa E; Wittmann, Gyula G; Giese, Anne-Katrin AK; Lukas, Jan J; Gölnitz, Uta U; Klingenhäger, Michael M; Bodamer, Olaf O; Mühl, Adolf A; Rolfs, Arndt A

Publication Date: 2012

Variant appearance in text: GAA: 307T>G; C103G

PubMed Link: 23430949

Variant Present in the following documents:

• Main text

View BVdb publication page

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A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.

Orphanet Journal Of Rare Diseases

Herzog, Andreas A; Hartung, Ralf R; Reuser, Arnold J J AJ; Hermanns, Pia P; Runz, Heiko H; Karabul, Nesrin N; Gökce, Seyfullah S; Pohlenz, Joachim J; Kampmann, Christoph C; Lampe, Christina C; Beck, Michael M; Mengel, Eugen E

Publication Date: 2012-06-07

Variant appearance in text: GAA: 307T>G; Cys103Gly

PubMed Link: 22676651

Variant Present in the following documents:

• Main text
• 1750-1172-7-35.pdf

View BVdb publication page

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