Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs1025447

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: rs1025447

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: rs1025447

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

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Low LDL cholesterol, PCSK9 and HMGCR genetic variation, and risk of Alzheimer's disease and Parkinson's disease: Mendelian randomisation study.

Bmj (Clinical Research Ed.)

Benn, Marianne M; Nordestgaard, Børge G BG; Frikke-Schmidt, Ruth R; Tybjærg-Hansen, Anne A

Publication Date: 2017-04-24

Variant appearance in text: rs1025447

PubMed Link: 28438747

Variant Present in the following documents:

• benm033277.ww1.pdf

View BVdb publication page

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Four Susceptibility Loci for Gallstone Disease Identified in a Meta-analysis of Genome-Wide Association Studies.

Gastroenterology

Joshi, Amit D AD; Andersson, Charlotte C; Buch, Stephan S; Stender, Stefan S; Noordam, Raymond R; Weng, Lu-Chen LC; Weeke, Peter E PE; Auer, Paul L PL; Boehm, Bernhard B; Chen, Constance C; Choi, Hyon H; Curhan, Gary G; Denny, Joshua C JC; De Vivo, Immaculata I; Eicher, John D JD; Ellinghaus, David D; Folsom, Aaron R AR; Fuchs, Charles C; Gala, Manish M; Haessler, Jeffrey J; Hofman, Albert A; Hu, Frank F; Hunter, David J DJ; Janssen, Harry L A HL; Kang, Jae H JH; Kooperberg, Charles C; Kraft, Peter P; Kratzer, Wolfgang W; Lieb, Wolfgang W; Lutsey, Pamela L PL; Darwish Murad, Sarwa S; Nordestgaard, Børge G BG; Pasquale, Louis R LR; Reiner, Alex P AP; Ridker, Paul M PM; Rimm, Eric E; Rose, Lynda M LM; Shaffer, Christian M CM; Schafmayer, Clemens C; Tamimi, Rulla M RM; Uitterlinden, André G AG; Völker, Uwe U; Völzke, Henry H; Wakabayashi, Yoshiyuki Y; Wiggs, Janey L JL; Zhu, Jun J; Roden, Dan M DM; Stricker, Bruno H BH; Tang, Weihong W; Teumer, Alexander A; Hampe, Jochen J; Tybjærg-Hansen, Anne A; Chasman, Daniel I DI; Chan, Andrew T AT; Johnson, Andrew D AD

Publication Date: 2016-08

Variant appearance in text: rs1025447

PubMed Link: 27094239

Variant Present in the following documents:

• Main text

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs1025447

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 2

View BVdb publication page

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