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: 236_246del; Pro79fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Newborn screening for Pompe disease in Italy: Long-term results and future challenges.

Molecular Genetics And Metabolism Reports

Gragnaniello, Vincenza V; Pijnappel, Pim W W M PWWM; Burlina, Alessandro P AP; In 't Groen, Stijn L M SLM; Gueraldi, Daniela D; Cazzorla, Chiara C; Maines, Evelina E; Polo, Giulia G; Salviati, Leonardo L; Di Salvo, Giovanni G; Burlina, Alberto B AB

Publication Date: 2022-12

Variant appearance in text: GAA: 236_246del; Pro79Argfs*13

PubMed Link: 36310651

Variant Present in the following documents:

• main.pdf

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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: 236_246delCCACACAGTGC; Pro79fs

PubMed Link: 34020684

Variant Present in the following documents:

• Main text
• 13023_2021_Article_1864.pdf

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Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Li, Cindy C; Desai, Ankit K AK; Gupta, Punita P; Dempsey, Katherine K; Bhambhani, Vikas V; Hopkin, Robert J RJ; Ficicioglu, Can C; Tanpaiboon, Pranoot P; Craigen, William J WJ; Rosenberg, Amy S AS; Kishnani, Priya S PS

Publication Date: 2021-05

Variant appearance in text: GAA: 236_246del

PubMed Link: 33495531

Variant Present in the following documents:

• Main text
• nihms-1680101.pdf

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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: 236_246del

PubMed Link: 33073027

Variant Present in the following documents:

• Main text
• IJNS-06-00031.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: 236_246delCCACACAGTGC; Pro79fs

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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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: 236_246del

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: 236_246del

PubMed Link: 31342611

Variant Present in the following documents:

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

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Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report.

Journal Of Medical Case Reports

Adadi, Najlae N; Sahli, Maryem M; Egéa, Grégory G; Ratbi, Ilham I; Taoudi, Mohamed M; Zniber, Layla L; Jdioui, Wafaa W; El Mouatassim, Said S; Sefiani, Abdelaziz A

Publication Date: 2018-10-29

Variant appearance in text: GAA: 236_246delCCACACAGTGC; Pro79ArgfsX13

PubMed Link: 30371346

Variant Present in the following documents:

• Main text
• 13256_2018_Article_1855.pdf

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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: 236_246del

PubMed Link: 27711114

Variant Present in the following documents:

• pone.0163493.pdf

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Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERT.

Plos One

Banugaria, Suhrad G SG; Prater, Sean N SN; Patel, Trusha T TT; Dearmey, Stephanie M SM; Milleson, Christie C; Sheets, Kathryn B KB; Bali, Deeksha S DS; Rehder, Catherine W CW; Raiman, Julian A J JA; Wang, Raymond A RA; Labarthe, Francois F; Charrow, Joel J; Harmatz, Paul P; Chakraborty, Pranesh P; Rosenberg, Amy S AS; Kishnani, Priya S PS

Publication Date: 2013

Variant appearance in text: GAA: 236_246del; Pro79ArgfsX13

PubMed Link: 23825616

Variant Present in the following documents:

• Main text
• pone.0067052.pdf

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Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.

Plos One

Gallardo, Eduard E; de Luna, Noemi N; Diaz-Manera, Jordi J; Rojas-García, Ricardo R; Gonzalez-Quereda, Lidia L; Flix, Bàrbara B; de Morrée, Antoine A; van der Maarel, Silvère S; Illa, Isabel I

Publication Date: 2011

Variant appearance in text: GAA: 236_246delCCACACAGTGC; Pro79ArgfsX13

PubMed Link: 22194990

Variant Present in the following documents:

• Main text
• pone.0029061.pdf

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