Publications:

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: F273S; rs869312430

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

The Benefits of Family Screening in Rare Diseases: Genetic Testing Reveals 165 New Cases of Fabry Disease among At-Risk Family Members of 83 Index Patients.

Genes

Moiseev, Sergey S; Tao, Ekaterina E; Moiseev, Alexey A; Bulanov, Nikolay N; Filatova, Ekaterina E; Fomin, Victor V; Germain, Dominique P DP

Publication Date: 2022-09-09

Variant appearance in text: GLA: 818T>C; Phe273Ser

PubMed Link: 36140787

Variant Present in the following documents:

• genes-13-01619.pdf

View BVdb publication page

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: F273S

PubMed Link: 34679477

Variant Present in the following documents:

• Main text
• diagnostics-11-01779.pdf

View BVdb publication page

Oxidative stress biomarkers in Fabry disease: is there a room for them?

Journal Of Neurology

Simoncini, C C; Torri, S S; Montano, V V; Chico, L L; Gruosso, F F; Tuttolomondo, A A; Pinto, A A; Simonetta, I I; Cianci, V V; Salviati, A A; Vicenzi, V V; Marchi, G G; Girelli, D D; Concolino, D D; Sestito, S S; Zedde, M M; Siciliano, G G; Mancuso, Michelangelo M

Publication Date: 2020-12

Variant appearance in text: GLA: Phe273Ser

PubMed Link: 32719972

Variant Present in the following documents:

• Main text
• 415_2020_Article_10044.pdf

View BVdb publication page

The Prevalence and Clinical Features of Fabry Disease in Hemodialysis Patients: Russian Nationwide Fabry Dialysis Screening Program.

Nephron

Moiseev, Sergey S; Fomin, Victor V; Savostyanov, Kirill K; Pushkov, Alexander A; Moiseev, Alexey A; Svistunov, Andrey A; Namazova-Baranova, Leyla L

Publication Date: 2019

Variant appearance in text: GLA: 818T>C; F273S

PubMed Link: 30677769

Variant Present in the following documents:

• Main text

View BVdb publication page