Publications:

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: GAA: 876C>G; Tyr292Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.

Human Mutation

de Faria, Douglas O S DOS; 't Groen, Stijn L M In SLMI; Hoogeveen-Westerveld, Marianne M; Nino, Monica Y MY; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP

Publication Date: 2021-02

Variant appearance in text: GAA: 876C>G

PubMed Link: 33560568

Variant Present in the following documents:

• Main text
• HUMU-42-119.pdf

View BVdb publication page

Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.

Human Mutation

de Faria, Douglas O S DOS; 't Groen, Stijn L M In SLMI; Hoogeveen-Westerveld, Marianne M; Nino, Monica Y MY; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP

Publication Date: 2021-02

Variant appearance in text: GAA: 876C>G

PubMed Link: 33560568

Variant Present in the following documents:

• Main text
• HUMU-42-119.pdf

View BVdb publication page

Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand.

Bmc Medical Genetics

Ngiwsara, Lukana L; Wattanasirichaigoon, Duangrurdee D; Tim-Aroon, Thipwimol T; Rojnueangnit, Kitiwan K; Noojaroen, Saisuda S; Khongkraparn, Arthaporn A; Sawangareetrakul, Phannee P; Ketudat-Cairns, James R JR; Charoenwattanasatien, Ratana R; Champattanachai, Voraratt V; Kuptanon, Chulaluck C; Pangkanon, Suthipong S; Svasti, Jisnuson J

Publication Date: 2019-09-11

Variant appearance in text: GAA: 876C>G; Tyr292X

PubMed Link: 31510962

Variant Present in the following documents:

• Main text
• 12881_2019_Article_878.pdf

View BVdb publication page