Publications:

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Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.

Nature Genetics

Schlosser, Pascal P; Scherer, Nora N; Grundner-Culemann, Franziska F; Monteiro-Martins, Sara S; Haug, Stefan S; Steinbrenner, Inga I; Uluvar, Burulça B; Wuttke, Matthias M; Cheng, Yurong Y; Ekici, Arif B AB; Gyimesi, Gergely G; Karoly, Edward D ED; Kotsis, Fruzsina F; Mielke, Johanna J; Gomez, Maria F MF; Yu, Bing B; Grams, Morgan E ME; Coresh, Josef J; Boerwinkle, Eric E; Köttgen, Michael M; Kronenberg, Florian F; Meiselbach, Heike H; Mohney, Robert P RP; Akilesh, Shreeram S; , ; Schmidts, Miriam M; Hediger, Matthias A MA; Schultheiss, Ulla T UT; Eckardt, Kai-Uwe KU; Oefner, Peter J PJ; Sekula, Peggy P; Li, Yong Y; Köttgen, Anna A

Publication Date: 2023-06-05

Variant appearance in text: rs9332238

PubMed Link: 37277652

Variant Present in the following documents:

• 41588_2023_1409_MOESM4_ESM.pdf

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Influence of Genetic Variants on Steady-State Etonogestrel Concentrations Among Contraceptive Implant Users.

Obstetrics And Gynecology

Lazorwitz, Aaron A; Aquilante, Christina L CL; Oreschak, Kris K; Sheeder, Jeanelle J; Guiahi, Maryam M; Teal, Stephanie S

Publication Date: 2019-04

Variant appearance in text: rs9332238

PubMed Link: 30870275

Variant Present in the following documents:

• Main text

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: CYP2C9: 1292-112G>A; rs9332238

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs9332238

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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Pharmacogenetic studies with oral anticoagulants. Genome-wide association studies in vitamin K antagonist and direct oral anticoagulants.

Oncotarget

Cullell, Natalia N; Carrera, Caty C; Muiño, Elena E; Torres, Nuria N; Krupinski, Jerzy J; Fernandez-Cadenas, Israel I

Publication Date: 2018-06-26

Variant appearance in text: rs9332238

PubMed Link: 30018749

Variant Present in the following documents:

• Main text
• oncotarget-09-29238.pdf

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Admixture mapping in two Mexican samples identifies significant associations of locus ancestry with triglyceride levels in the BUD13/ZNF259/APOA5 region and fine mapping points to rs964184 as the main driver of the association signal.

Plos One

Parra, Esteban J EJ; Mazurek, Andrew A; Gignoux, Christopher R CR; Sockell, Alexandra A; Agostino, Michael M; Morris, Andrew P AP; Petty, Lauren E LE; Hanis, Craig L CL; Cox, Nancy J NJ; Valladares-Salgado, Adan A; Below, Jennifer E JE; Cruz, Miguel M

Publication Date: 2017

Variant appearance in text: rs9332238

PubMed Link: 28245265

Variant Present in the following documents:

• Main text
• pone.0172880.pdf

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: rs9332238

PubMed Link: 26549847

Variant Present in the following documents:

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

View BVdb publication page

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Genome-wide association study of warfarin maintenance dose in a Brazilian sample.

Pharmacogenomics

Parra, Esteban J EJ; Botton, Mariana R MR; Perini, Jamila A JA; Krithika, S S; Bourgeois, Stephane S; Johnson, Todd A TA; Tsunoda, Tatsuhiko T; Pirmohamed, Munir M; Wadelius, Mia M; Limdi, Nita A NA; Cavallari, Larisa H LH; Burmester, James K JK; Rettie, Allan E AE; Klein, Teri E TE; Johnson, Julie A JA; Hutz, Mara H MH; Suarez-Kurtz, Guilherme G

Publication Date: 2015

Variant appearance in text: rs9332238

PubMed Link: 26265036

Variant Present in the following documents:

• Main text

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Genetic factors associated with patient-specific warfarin dose in ethnic Indonesians.

Bmc Medical Genetics

Suriapranata, Ivet M IM; Tjong, Wen Ye WY; Wang, Tingliang T; Utama, Andi A; Raharjo, Sunu B SB; Yuniadi, Yoga Y; Tai, Susan Sw SS

Publication Date: 2011-06-06

Variant appearance in text: rs9332238

PubMed Link: 21639946

Variant Present in the following documents:

• Main text
• 1471-2350-12-80.pdf

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