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: GLA: 540G>T; Leu180Phe

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Abnormal Pre-mRNA Splicing in Exonic Fabry Disease-Causing GLA Mutations.

International Journal Of Molecular Sciences

Alfen, Franziska F; Putscher, Elena E; Hecker, Michael M; Zettl, Uwe Klaus UK; Hermann, Andreas A; Lukas, Jan J

Publication Date: 2022-12-03

Variant appearance in text: GLA: 540G>T; Leu180Phe

PubMed Link: 36499585

Variant Present in the following documents:

• Main text
• ijms-23-15261.pdf

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Depression, sleep disturbances, pain, disability and quality of LIFE in Brazilian Fabry disease patients.

Molecular Genetics And Metabolism Reports

Rosa Neto, Nilton Salles NS; Bento, Judith Campos de Barros JCB; Pereira, Rosa Maria Rodrigues RMR

Publication Date: 2020-03

Variant appearance in text: GLA: L180F

PubMed Link: 31871893

Variant Present in the following documents:

• Main text
• main.pdf

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: GLA: L180F

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Expression of uPAR in Urinary Podocytes of Patients with Fabry Disease.

International Journal Of Nephrology

Trimarchi, Hernán H; Canzonieri, Romina R; Schiel, Amalia A; Politei, Juan J; Costales-Collaguazo, Cristian C; Stern, Aníbal A; Paulero, Matías M; Rengel, Tatiana T; Valiño-Rivas, Lara L; Forrester, Mariano M; Lombi, Fernando F; Pomeranz, Vanesa V; Iriarte, Romina R; Muryan, Alexis A; Ortiz, Alberto A; Sanchez-Niño, María Dolores MD; Zotta, Elsa E

Publication Date: 2017

Variant appearance in text: GLA: L180F

PubMed Link: 28523190

Variant Present in the following documents:

• Main text
• IJN2017-1287289.pdf

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The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations.

International Journal Of Molecular Sciences

Citro, Valentina V; Cammisa, Marco M; Liguori, Ludovica L; Cimmaruta, Chiara C; Lukas, Jan J; Cubellis, Maria Vittoria MV; Andreotti, Giuseppina G

Publication Date: 2016-12-01

Variant appearance in text: GLA: L180F

PubMed Link: 27916943

Variant Present in the following documents:

• Main text
• ijms-17-02010.pdf

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Increased urinary CD80 excretion and podocyturia in Fabry disease.

Journal Of Translational Medicine

Trimarchi, H H; Canzonieri, R R; Schiel, A A; Costales-Collaguazo, C C; Politei, J J; Stern, A A; Paulero, M M; Rengel, T T; Andrews, J J; Forrester, M M; Lombi, M M; Pomeranz, V V; Iriarte, R R; Muryan, A A; Zotta, E E; Sanchez-Niño, M D MD; Ortiz, A A

Publication Date: 2016-10-13

Variant appearance in text: GLA: L180F

PubMed Link: 27733175

Variant Present in the following documents:

• Main text
• 12967_2016_Article_1049.pdf

View BVdb publication page

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