Publications:

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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: 573C>A; Tyr191Ter

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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Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience.

Children (Basel, Switzerland)

de Las Heras, Javier J; Cano, Ainara A; Vinuesa, Ana A; Montes, Marta M; Unceta Suarez, María M; Arza, Arantza A; Jiménez, Saioa S; Vera, Elena E; Del Hoyo, Marta M; Gendive, Miriam M; Aguirre, Lizar L; Muñoz, Gisela G; Fernández, Javier J; Ruiz-Espinoza, Cynthia C; Fernández, María Ángeles MÁ; Galdeano, José Miguel JM; Rodríguez, Irene I; Román, Lourdes L; Rodríguez-Serna, Amaya A; Loureiro, Begoña B; Astigarraga, Itziar I

Publication Date: 2021-11-09

Variant appearance in text: GAA: 573C>A; Tyr191*

PubMed Link: 34828739

Variant Present in the following documents:

• Main text
• children-08-01026.pdf

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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: 573C>A

PubMed Link: 34305788

Variant Present in the following documents:

• Main text
• fneur-12-675781.pdf

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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: 573C>A; Tyr191Ter; rs376229714

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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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: 573C>A; Tyr191Ter

PubMed Link: 33717985

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Elucidating aromatic acid tolerance at low pH in Saccharomyces cerevisiae using adaptive laboratory evolution.

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

Pereira, Rui R; Mohamed, Elsayed T ET; Radi, Mohammad S MS; Herrgård, Markus J MJ; Feist, Adam M AM; Nielsen, Jens J; Chen, Yun Y

Publication Date: 2020-11-10

Variant appearance in text: GAA: Y191*

PubMed Link: 33106428

Variant Present in the following documents:

• pnas.2013044117.sapp.pdf

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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: 573C>A

PubMed Link: 33073007

Variant Present in the following documents:

• Main text
• IJNS-06-00009.pdf

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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: 573C>A; Tyr191*; rs376229714

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: 573C>A; Tyr191Ter

PubMed Link: 31342611

Variant Present in the following documents:

• HUMU-40-2146-s001.pdf

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Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study.

Scientific Reports

Figueroa-Bonaparte, Sebastian S; Llauger, Jaume J; Segovia, Sonia S; Belmonte, Izaskun I; Pedrosa, Irene I; Montiel, Elena E; Montesinos, Paula P; Sánchez-González, Javier J; Alonso-Jiménez, Alicia A; Gallardo, Eduard E; Illa, Isabel I; , ; Díaz-Manera, Jordi J

Publication Date: 2018-07-18

Variant appearance in text: GAA: 573C>A

PubMed Link: 30022036

Variant Present in the following documents:

• Main text
• 41598_2018_Article_29170.pdf

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: 573C>A

PubMed Link: 27711114

Variant Present in the following documents:

• Main text
• pone.0163493.pdf

View BVdb publication page

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