Publications:

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: rs12452616

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: rs12452616

PubMed Link: 33560568

Variant Present in the following documents:

• Main text
• HUMU-42-119.pdf

View BVdb publication page

Primary graft dysfunction: pathophysiology to guide new preventive therapies.

Expert Review Of Respiratory Medicine

Shaver, Ciara M CM; Ware, Lorraine B LB

Publication Date: 2017-02

Variant appearance in text: rs12452616

PubMed Link: 28074663

Variant Present in the following documents:

• Main text

View BVdb publication page

Genetic variation in the prostaglandin E2 pathway is associated with primary graft dysfunction.

American Journal Of Respiratory And Critical Care Medicine

Diamond, Joshua M JM; Akimova, Tatiana T; Kazi, Altaf A; Shah, Rupal J RJ; Cantu, Edward E; Feng, Rui R; Levine, Matthew H MH; Kawut, Steven M SM; Meyer, Nuala J NJ; Lee, James C JC; Hancock, Wayne W WW; Aplenc, Richard R; Ware, Lorraine B LB; Palmer, Scott M SM; Bhorade, Sangeeta S; Lama, Vibha N VN; Weinacker, Ann A; Orens, Jonathan J; Wille, Keith K; Crespo, Maria M; Lederer, David J DJ; Arcasoy, Selim S; Demissie, Ejigayehu E; Christie, Jason D JD; ,

Publication Date: 2014-03-01

Variant appearance in text: rs12452616

PubMed Link: 24467603

Variant Present in the following documents:

• Main text

View BVdb publication page

Polymorphisms in metabolism/antioxidant genes may mediate the effect of dietary intake on pancreatic cancer risk.

Pancreas

Jansen, Rick J RJ; Robinson, Dennis P DP; Stolzenberg-Solomon, Rachael Z RZ; Bamlet, William R WR; Tan, XiangLin X; Cunningham, Julie M JM; Li, Ying Y; Rider, David N DN; Oberg, Ann L AL; Rabe, Kari G KG; Anderson, Kristin E KE; Sinha, Rashmi R; Petersen, Gloria M GM

Publication Date: 2013-10

Variant appearance in text: rs12452616

PubMed Link: 24051964

Variant Present in the following documents:

• Main text

View BVdb publication page