Publications:

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: GLA: D83N; rs782722577

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.

Diagnostics (Basel, Switzerland)

Sawada, Takaaki T; Kido, Jun J; Sugawara, Keishin K; Nakamura, Kimitoshi K

Publication Date: 2021-09-27

Variant appearance in text: GLA: D83N

PubMed Link: 34679477

Variant Present in the following documents:

• Main text
• diagnostics-11-01779.pdf

View BVdb publication page

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Plasma Globotriaosylsphingosine and α-Galactosidase A Activity as a Combined Screening Biomarker for Fabry Disease in a Large Japanese Cohort.

Current Issues In Molecular Biology

Maruyama, Hiroki H; Taguchi, Atsumi A; Mikame, Mariko M; Izawa, Atsushi A; Morito, Naoki N; Izaki, Kazufumi K; Seto, Toshiyuki T; Onishi, Akifumi A; Sugiyama, Hitoshi H; Sakai, Norio N; Yamabe, Kenji K; Yokoyama, Yukio Y; Yamashita, Satoshi S; Satoh, Hiroshi H; Toyoda, Shigeru S; Hosojima, Michihiro M; Ito, Yumi Y; Tazawa, Ryushi R; Ishii, Satoshi S

Publication Date: 2021-06-19

Variant appearance in text: GLA: Asp83Asn

PubMed Link: 34205365

Variant Present in the following documents:

• Main text
• cimb-43-00032.pdf

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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: D83N

PubMed Link: 32995357

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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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: 247G>A; D83N

PubMed Link: 32023956

Variant Present in the following documents:

• Main text
• ijms-21-00956.pdf

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Exploratory screening for Fabry's disease in young adults with cerebrovascular disorders in northern Sardinia.

Bmc Neurology

Fancellu, Laura L; Borsini, Walter W; Romani, Ilaria I; Pirisi, Angelo A; Deiana, Giovanni Andrea GA; Sechi, Elia E; Doneddu, Pietro Emiliano PE; Rassu, Anna Laura AL; Demurtas, Rita R; Scarabotto, Anna A; Cassini, Pamela P; Arbustini, Eloisa E; Sechi, GianPietro G

Publication Date: 2015-12-12

Variant appearance in text: GLA: D83N

PubMed Link: 26652600

Variant Present in the following documents:

• Main text
• 12883_2015_Article_513.pdf

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Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma.

Clinica Chimica Acta; International Journal Of Clinical Chemistry

Ferreira, Susana S; Auray-Blais, Christiane C; Boutin, Michel M; Lavoie, Pamela P; Nunes, José Pedro JP; Martins, Elisabete E; Garman, Scott S; Oliveira, João Paulo JP

Publication Date: 2015-07-20

Variant appearance in text: GLA: Asp83Asn

PubMed Link: 26070511

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.

Plos Genetics

Lukas, Jan J; Giese, Anne-Katrin AK; Markoff, Arseni A; Grittner, Ulrike U; Kolodny, Ed E; Mascher, Hermann H; Lackner, Karl J KJ; Meyer, Wolfgang W; Wree, Phillip P; Saviouk, Viatcheslav V; Rolfs, Arndt A

Publication Date: 2013

Variant appearance in text: GLA: D83N

PubMed Link: 23935525

Variant Present in the following documents:

• Main text
• pgen.1003632.pdf

View BVdb publication page

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