Publications:

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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: 854C>G; Pro285Arg; rs764622267

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: 854C>G; Pro285Arg

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: 854C>G; Pro285Arg

PubMed Link: 33717985

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

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: P285R

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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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: 854C>G; Pro285Arg; rs764622267

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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: 854C>G

PubMed Link: 31342611

Variant Present in the following documents:

• Main text
• HUMU-40-2146.pdf
• HUMU-40-2146-s001.pdf

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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: P285R

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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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: P285R

PubMed Link: 29061980

Variant Present in the following documents:

• 41467_2017_1263_MOESM1_ESM.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: P285R

PubMed Link: 28196920

Variant Present in the following documents:

• Main text

View BVdb publication page

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Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients.

Scientific Reports

Masat, Elisa E; Laforêt, Pascal P; De Antonio, Marie M; Corre, Guillaume G; Perniconi, Barbara B; Taouagh, Nadjib N; Mariampillai, Kuberaka K; Amelin, Damien D; Mauhin, Wladimir W; Hogrel, Jean-Yves JY; Caillaud, Catherine C; Ronzitti, Giuseppe G; Puzzo, Francesco F; Kuranda, Klaudia K; Colella, Pasqualina P; Mallone, Roberto R; Benveniste, Olivier O; Mingozzi, Federico F; ,

Publication Date: 2016-11-04

Variant appearance in text: GAA: 854C>G

PubMed Link: 27812025

Variant Present in the following documents:

• srep36182-s1.pdf

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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: P285R

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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