Publications:

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: GLA: 427G>C

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

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Expanding Approved Patient Populations for Rare Disease Treatment Using In Vitro Data.

Clinical Pharmacology And Therapeutics

Weaver, James L JL; Wu, Wendy W; Hyland, Paula L PL; Lim, Robert R; Smpokou, Patroula P; Pacanowski, Michael M

Publication Date: 2022-07

Variant appearance in text: GLA: A143P

PubMed Link: 34496049

Variant Present in the following documents:

• Main text
• CPT-112-58.pdf

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Lentivirus-mediated gene therapy for Fabry disease.

Nature Communications

Khan, Aneal A; Barber, Dwayne L DL; Huang, Ju J; Rupar, C Anthony CA; Rip, Jack W JW; Auray-Blais, Christiane C; Boutin, Michel M; O'Hoski, Pamela P; Gargulak, Kristy K; McKillop, William M WM; Fraser, Graeme G; Wasim, Syed S; LeMoine, Kaye K; Jelinski, Shelly S; Chaudhry, Ahsan A; Prokopishyn, Nicole N; Morel, Chantal F CF; Couban, Stephen S; Duggan, Peter R PR; Fowler, Daniel H DH; Keating, Armand A; West, Michael L ML; Foley, Ronan R; Medin, Jeffrey A JA

Publication Date: 2021-02-25

Variant appearance in text: GLA: Ala143Pro

PubMed Link: 33633114

Variant Present in the following documents:

• Main text
• 41467_2021_Article_21371.pdf

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Variable clinical features of patients with Fabry disease and outcome of enzyme replacement therapy.

Molecular Genetics And Metabolism Reports

Dutra-Clarke, Marina M; Tapia, Daisy D; Curtin, Emily E; Rünger, Dennis D; Lee, Grace K GK; Lakatos, Anita A; Alandy-Dy, Zyza Z; Freedkin, Linda L; Hall, Kathy K; Ercelen, Nesrin N; Alandy-Dy, Jousef J; Knight, Margaret M; Pahl, Madeleine M; Lombardo, Dawn D; Kimonis, Virginia V

Publication Date: 2021-03

Variant appearance in text: GLA: 427G>C; A143P

PubMed Link: 33437642

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: A143P

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: A143P

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: GLA: 427G>C; Ala143Pro

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

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Elevated Inflammatory Plasma Biomarkers in Patients With Fabry Disease: A Critical Link to Heart Failure With Preserved Ejection Fraction.

Journal Of The American Heart Association

Yogasundaram, Haran H; Nikhanj, Anish A; Putko, Brendan N BN; Boutin, Michel M; Jain-Ghai, Shailly S; Khan, Aneal A; Auray-Blais, Christiane C; West, Michael L ML; Oudit, Gavin Y GY

Publication Date: 2018-11-06

Variant appearance in text: GLA: A143P

PubMed Link: 30571380

Variant Present in the following documents:

• Main text
• JAH3-7-e009098.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: A143P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Mosaicism of podocyte involvement is related to podocyte injury in females with Fabry disease.

Plos One

Mauer, Michael M; Glynn, Emily E; Svarstad, Einar E; Tøndel, Camilla C; Gubler, Marie-Claire MC; West, Michael M; Sokolovskiy, Alexey A; Whitley, Chester C; Najafian, Behzad B

Publication Date: 2014

Variant appearance in text: GLA: Ala143Pro

PubMed Link: 25386848

Variant Present in the following documents:

• Main text
• pone.0112188.pdf

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A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.

Human Mutation

Wu, Xiaoyang X; Katz, Evan E; Della Valle, Maria Cecilia MC; Mascioli, Kirsten K; Flanagan, John J JJ; Castelli, Jeffrey P JP; Schiffmann, Raphael R; Boudes, Pol P; Lockhart, David J DJ; Valenzano, Kenneth J KJ; Benjamin, Elfrida R ER

Publication Date: 2011-08

Variant appearance in text: GLA: 427G>C; A143P

PubMed Link: 21598360

Variant Present in the following documents:

• Main text
• humu0032-0965.pdf

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Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl.

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

Lu, Jie J; Chiang, Jeffrey J; Iyer, Rajiv R RR; Thompson, Eli E; Kaneski, Christine R CR; Xu, David S DS; Yang, Chunzhang C; Chen, Masako M; Hodes, Richard J RJ; Lonser, Russell R RR; Brady, Roscoe O RO; Zhuang, Zhengping Z

Publication Date: 2010-12-14

Variant appearance in text: GLA: A143P

PubMed Link: 21098288

Variant Present in the following documents:

• Main text

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Screening for pharmacological chaperones in Fabry disease.

Biochemical And Biophysical Research Communications

Shin, Sang-Hoon SH; Murray, Gary J GJ; Kluepfel-Stahl, Stefanie S; Cooney, Adele M AM; Quirk, Jane M JM; Schiffmann, Raphael R; Brady, Roscoe O RO; Kaneski, Christine R CR

Publication Date: 2007-07-20

Variant appearance in text: GLA: 427G>C; A143P

PubMed Link: 17532296

Variant Present in the following documents:

• Main text

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