Publications:

Integrative multi-omics and drug-response characterization of patient-derived prostate cancer primary cells.

Signal Transduction And Targeted Therapy

Wang, Ziruoyu Z; Li, Yanan Y; Zhao, Wensi W; Jiang, Shuai S; Huang, Yuqi Y; Hou, Jun J; Zhang, Xuelu X; Zhai, Zhaoyu Z; Yang, Chen C; Wang, Jiaqi J; Zhu, Jiying J; Pan, Jianbo J; Jiang, Wei W; Li, Zengxia Z; Ye, Mingliang M; Tan, Minjia M; Jiang, Haowen H; Dang, Yongjun Y

Publication Date: 2023-05-01

Variant appearance in text: GAA: Trp613Cys

PubMed Link: 37121942

Variant Present in the following documents:

• 41392_2023_1393_MOESM2_ESM.xlsx, sheet 1

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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: 1839G>C

PubMed Link: 33560568

Variant Present in the following documents:

• Main text
• HUMU-42-119.pdf

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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: 1839G>C

PubMed Link: 33560568

Variant Present in the following documents:

• Main text
• HUMU-42-119.pdf

View BVdb publication page

Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures.

Orphanet Journal Of Rare Diseases

Vanherpe, P P; Fieuws, S S; D'Hondt, A A; Bleyenheuft, C C; Demaerel, P P; De Bleecker, J J; Van den Bergh, P P; Baets, J J; Remiche, G G; Verhoeven, K K; Delstanche, S S; Toussaint, M M; Buyse, B B; Van Damme, P P; Depuydt, C E CE; Claeys, K G KG

Publication Date: 2020-04-05

Variant appearance in text: GAA: 1839G>C

PubMed Link: 32248831

Variant Present in the following documents:

• 13023_2020_Article_1353.pdf

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GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.

Human Mutation

Reuser, Arnold J J AJJ; van der Ploeg, Ans T AT; Chien, Yin-Hsiu YH; Llerena, Juan J; Abbott, Mary-Alice MA; Clemens, Paula R PR; Kimonis, Virginia E VE; Leslie, Nancy N; Maruti, Sonia S SS; Sanson, Bernd-Jan BJ; Araujo, Roberto R; Periquet, Magali M; Toscano, Antonio A; Kishnani, Priya S PS; On Behalf Of The Pompe Registry Sites,

Publication Date: 2019-11

Variant appearance in text: GAA: Trp613Cys

PubMed Link: 31342611

Variant Present in the following documents:

• Main text
• HUMU-40-2146.pdf
• HUMU-40-2146-s001.pdf

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