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: 790G>T; Asp264Tyr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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In Vitro and In Vivo Amenability to Migalastat in Fabry Disease.

Molecular Therapy. Methods & Clinical Development

Lenders, Malte M; Stappers, Franciska F; Brand, Eva E

Publication Date: 2020-12-11

Variant appearance in text: GLA: D264Y

PubMed Link: 32995357

Variant Present in the following documents:

• Main text
• main.pdf

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Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.

International Journal Of Molecular Sciences

Lukas, Jan J; Cimmaruta, Chiara C; Liguori, Ludovica L; Pantoom, Supansa S; Iwanov, Katharina K; Petters, Janine J; Hund, Christina C; Bunschkowski, Maik M; Hermann, Andreas A; Cubellis, Maria Vittoria MV; Rolfs, Arndt A

Publication Date: 2020-01-31

Variant appearance in text: GLA: 790G>T; D264Y

PubMed Link: 32023956

Variant Present in the following documents:

• Main text
• ijms-21-00956.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: D264Y

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders.

Genetics And Molecular Biology

Málaga, Diana Rojas DR; Brusius-Facchin, Ana Carolina AC; Siebert, Marina M; Pasqualim, Gabriela G; Saraiva-Pereira, Maria Luiza ML; Souza, Carolina F M de CFM; Schwartz, Ida V D IVD; Matte, Ursula U; Giugliani, Roberto R

Publication Date: 2019

Variant appearance in text: GLA: Asp264Tyr; rs190347120

PubMed Link: 30985853

Variant Present in the following documents:

• Main text
• 1415-4757-GMB-1678-4685-GMB-2018-0092.pdf

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Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study.

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

Germain, Dominique P DP; Nicholls, Kathy K; Giugliani, Roberto R; Bichet, Daniel G DG; Hughes, Derralynn A DA; Barisoni, Laura M LM; Colvin, Robert B RB; Jennette, J Charles JC; Skuban, Nina N; Castelli, Jeffrey P JP; Benjamin, Elfrida E; Barth, Jay A JA; Viereck, Christopher C

Publication Date: 2019-09

Variant appearance in text: GLA: 790G>T; Asp264Tyr

PubMed Link: 30723321

Variant Present in the following documents:

• Main text
• 41436_2019_Article_451.pdf

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Parkinson's disease prevalence in Fabry disease: A survey study.

Molecular Genetics And Metabolism Reports

Wise, Adina H AH; Yang, Amy A; Naik, Hetanshi H; Stauffer, Chanan C; Zeid, Natasha N; Liong, Christopher C; Balwani, Manisha M; Desnick, Robert J RJ; Alcalay, Roy N RN

Publication Date: 2018-03

Variant appearance in text: GLA: D264Y

PubMed Link: 29159076

Variant Present in the following documents:

• Main text
• main.pdf

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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: D264Y

PubMed Link: 28523190

Variant Present in the following documents:

• Main text
• IJN2017-1287289.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: D264Y

PubMed Link: 27733175

Variant Present in the following documents:

• Main text
• 12967_2016_Article_1049.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: GLA: D264Y

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Rapid Immunochromatographic Detection of Serum Anti-α-Galactosidase A Antibodies in Fabry Patients after Enzyme Replacement Therapy.

Plos One

Nakano, Sachie S; Tsukimura, Takahiro T; Togawa, Tadayasu T; Ohashi, Toya T; Kobayashi, Masahisa M; Takayama, Katsuyoshi K; Kobayashi, Yukuharu Y; Abiko, Hiroshi H; Satou, Masatsugu M; Nakahata, Tohru T; Warnock, David G DG; Sakuraba, Hitoshi H; Shibasaki, Futoshi F

Publication Date: 2015

Variant appearance in text: GLA: D264Y

PubMed Link: 26083343

Variant Present in the following documents:

• Main text
• pone.0128351.pdf

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Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.

Plos One

Saito, Seiji S; Ohno, Kazuki K; Sakuraba, Hitoshi H

Publication Date: 2013

Variant appearance in text: GLA: D264Y

PubMed Link: 24386359

Variant Present in the following documents:

• Main text
• pone.0084267.pdf

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