Publications:

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: 2188G>T; Glu730Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Haplotype-resolved de novo assembly of the Vero cell line genome.

Npj Vaccines

Sène, Marie-Angélique MA; Kiesslich, Sascha S; Djambazian, Haig H; Ragoussis, Jiannis J; Xia, Yu Y; Kamen, Amine A AA

Publication Date: 2021-08-20

Variant appearance in text: GAA: 2188G>T; Glu730*

PubMed Link: 34417462

Variant Present in the following documents:

• 41541_2021_358_MOESM3_ESM.xlsx, sheet 1

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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: 2188G>T

PubMed Link: 34220802

Variant Present in the following documents:

• DataSheet_1.pdf

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Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant.

Molecular Genetics And Metabolism

Rairikar, Mugdha V MV; Case, Laura E LE; Bailey, Lauren A LA; Kazi, Zoheb B ZB; Desai, Ankit K AK; Berrier, Kathryn L KL; Coats, Julie J; Gandy, Rachel R; Quinones, Rebecca R; Kishnani, Priya S PS

Publication Date: 2017-11

Variant appearance in text: GAA: 2188G>T

PubMed Link: 28951071

Variant Present in the following documents:

• Main text

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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: E730X

PubMed Link: 28196920

Variant Present in the following documents:

• Main text

View BVdb publication page