Publications:

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs11572076

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

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Characterization of ADME Gene Variation in Colombian Population by Exome Sequencing.

Frontiers In Pharmacology

Silgado-Guzmán, Daniel Felipe DF; Angulo-Aguado, Mariana M; Morel, Adrien A; Niño-Orrego, María José MJ; Ruiz-Torres, Daniel-Armando DA; Contreras Bravo, Nora Constanza NC; Restrepo, Carlos Martin CM; Ortega-Recalde, Oscar O; Fonseca-Mendoza, Dora Janeth DJ

Publication Date: 2022

Variant appearance in text: CYP2C8: 332-36G>A; rs11572076

PubMed Link: 35846994

Variant Present in the following documents:

• Table1.xlsx, sheet 1

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Genetic Variants Associated With Immunosuppressant Pharmacokinetics and Adverse Effects in the DeKAF Genomics Genome-wide Association Studies.

Transplantation

Oetting, William S WS; Wu, Baolin B; Schladt, David P DP; Guan, Weihua W; van Setten, Jessica J; Keating, Brendan J BJ; Iklé, David D; Remmel, Rory P RP; Dorr, Casey R CR; Mannon, Roslyn B RB; Matas, Arthur J AJ; Israni, Ajay K AK; Jacobson, Pamala A PA; ,

Publication Date: 2019-06

Variant appearance in text: rs11572076

PubMed Link: 30801552

Variant Present in the following documents:

• Main text

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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: rs11572076

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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Mycophenolate mofetil-related leukopenia in children and young adults following kidney transplantation: Influence of genes and drugs.

Pediatric Transplantation

Varnell, Charles D CD; Fukuda, Tsuyoshi T; Kirby, Cassie L CL; Martin, Lisa J LJ; Warshaw, Barry L BL; Patel, Hiren P HP; Chand, Deepa H DH; Barletta, Gina-Marie GM; Van Why, Scott K SK; VanDeVoorde, Rene G RG; Weaver, Donald J DJ; Wilson, Amy A; Verghese, Priya S PS; Vinks, Alexander A AA; Greenbaum, Larry A LA; Goebel, Jens J; Hooper, David K DK

Publication Date: 2017-11

Variant appearance in text: rs11572076

PubMed Link: 28869324

Variant Present in the following documents:

• Main text

View BVdb publication page

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Unmet medical needs in lupus nephritis: solutions through evidence-based, personalized medicine.

Clinical Kidney Journal

Anders, Hans-Joachim HJ; Weidenbusch, Marc M; Rovin, Brad B

Publication Date: 2015-10

Variant appearance in text: rs11572076

PubMed Link: 26413272

Variant Present in the following documents:

• Main text

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Use of pharmacogenomics in pediatric renal transplant recipients.

Frontiers In Genetics

Medeiros, Mara M; Castañeda-Hernández, Gilberto G; Ross, Colin J D CJ; Carleton, Bruce C BC

Publication Date: 2015

Variant appearance in text: rs11572076

PubMed Link: 25741362

Variant Present in the following documents:

• Main text
• fgene-06-00041.pdf

View BVdb publication page

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Associations between polymorphisms in target, metabolism, or transport proteins of mycophenolate sodium and therapeutic or adverse effects in kidney transplant patients.

Pharmacogenetics And Genomics

Woillard, Jean-Baptiste JB; Picard, Nicolas N; Thierry, Antoine A; Touchard, Guy G; Marquet, Pierre P; ,

Publication Date: 2014-05

Variant appearance in text: rs11572076

PubMed Link: 24681964

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphic cytochrome P450 enzymes (CYPs) and their role in personalized therapy.

Plos One

Preissner, Sarah C SC; Hoffmann, Michael F MF; Preissner, Robert R; Dunkel, Mathias M; Gewiess, Andreas A; Preissner, Saskia S

Publication Date: 2013

Variant appearance in text: rs11572076

PubMed Link: 24340040

Variant Present in the following documents:

• pone.0082562.s002.xlsx, sheet 1

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PharmGKB summary: very important pharmacogene information for cytochrome P450, family 2, subfamily C, polypeptide 8.

Pharmacogenetics And Genomics

Aquilante, Christina L CL; Niemi, Mikko M; Gong, Li L; Altman, Russ B RB; Klein, Teri E TE

Publication Date: 2013-12

Variant appearance in text: rs11572076

PubMed Link: 23962911

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic determinants of mycophenolate-related anemia and leukopenia after transplantation.

Transplantation

Jacobson, Pamala A PA; Schladt, David D; Oetting, William S WS; Leduc, Robert R; Guan, Weihau W; Matas, Arthur J AJ; Lamba, Vishal V; Mannon, Roslyn B RB; Julian, Bruce A BA; Israni, Ajay A; ,

Publication Date: 2011-02-15

Variant appearance in text: rs11572076

PubMed Link: 21107304

Variant Present in the following documents:

• Main text

View BVdb publication page

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Global variation in CYP2C8-CYP2C9 functional haplotypes.

The Pharmacogenomics Journal

Speed, William C WC; Kang, Soonmo Peter SP; Tuck, David P DP; Harris, Lyndsay N LN; Kidd, Kenneth K KK

Publication Date: 2009-08

Variant appearance in text: rs11572076

PubMed Link: 19381162

Variant Present in the following documents:

• tpj200910a.pdf

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