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: 782G>T; Gly261Val

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: 782G>T; Gly261Val

PubMed Link: 36140787

Variant Present in the following documents:

• genes-13-01619.pdf

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Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Bmc Medicine

Haverfield, Eden V EV; Esplin, Edward D ED; Aguilar, Sienna J SJ; Hatchell, Kathryn E KE; Ormond, Kelly E KE; Hanson-Kahn, Andrea A; Atwal, Paldeep S PS; Macklin-Mantia, Sarah S; Hines, Stephanie S; Sak, Caron W-M CW; Tucker, Steven S; Bleyl, Steven B SB; Hulick, Peter J PJ; Gordon, Ora K OK; Velsher, Lea L; Gu, Jessica Y J JYJ; Weissman, Scott M SM; Kruisselbrink, Teresa T; Abel, Christopher C; Kettles, Michele M; Slavotinek, Anne A; Mendelsohn, Bryce A BA; Green, Robert C RC; Aradhya, Swaroop S; Nussbaum, Robert L RL

Publication Date: 2021-08-18

Variant appearance in text: GLA: 782G>T

PubMed Link: 34404389

Variant Present in the following documents:

• 12916_2021_1999_MOESM2_ESM.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: 782G>T; G261V

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: G261V

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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Identification of a Missense Mutation in the α-galactosidase A Gene in a Chinese Family with Fabry Disease.

Current Genomics

Wu, Yuan Y; Xia, Hong H; Yuan, Jinzhong J; Xu, Hongbo H; Deng, Xiong X; Liu, Jun J; Zhang, Hao H; Deng, Hao H

Publication Date: 2018-01

Variant appearance in text: GLA: 782G>T; G261V

PubMed Link: 29491734

Variant Present in the following documents:

• Main text
• CG-19-70.pdf

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Fabry disease due to D313Y and novel GLA mutations.

Bmj Open

Koulousios, Konstantinos K; Stylianou, Konstantinos K; Pateinakis, Panagiotis P; Zamanakou, Maria M; Loules, Gedeon G; Manou, Eleni E; Kyriklidou, Parthena P; Katsinas, Christos C; Ouzouni, Alexandra A; Kyriazis, John J; Speletas, Matthaios M; Germenis, Anastasios E AE

Publication Date: 2017-10-06

Variant appearance in text: GLA: 782G>T; Gly261Val

PubMed Link: 28988177

Variant Present in the following documents:

• Main text
• bmjopen-2017-017098.pdf
• bmjopen-2017-017098.draft_revisions.pdf

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Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.

Orphanet Journal Of Rare Diseases

Alfadhel, Majid M; Benmeakel, Mohammed M; Hossain, Mohammad Arif MA; Al Mutairi, Fuad F; Al Othaim, Ali A; Alfares, Ahmed A AA; Al Balwi, Mohammed M; Alzaben, Abdullah A; Eyaid, Wafaa W

Publication Date: 2016-09-15

Variant appearance in text: GLA: Gly261Val

PubMed Link: 27629047

Variant Present in the following documents:

• Main text
• 13023_2016_Article_510.pdf

View BVdb publication page

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