Publications:

Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program.

Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research

Rush, Eric T ET; Johnson, Britt B; Aradhya, Swaroop S; Beltran, Daniel D; Bristow, Sara L SL; Eisenbeis, Scott S; Guerra, Norma E NE; Krolczyk, Stan S; Miller, Nicole N; Morales, Ana A; Ramesan, Prameela P; Sarafrazi, Soodabeh S; Truty, Rebecca R; Dahir, Kathryn K

Publication Date: 2022-02

Variant appearance in text: CYP2R1: 1363C>T; Arg455Trp

PubMed Link: 34633109

Variant Present in the following documents:

• JBMR-37-202-s001.xlsx, sheet 2

View BVdb publication page

Differential Frequency of CYP2R1 Variants Across Populations Reveals Pathway Selection for Vitamin D Homeostasis.

The Journal Of Clinical Endocrinology And Metabolism

Casella, Alex A; Long, Caela C; Zhou, Jingman J; Lai, Meizan M; O'Lear, Lauren L; Caplan, Ilana I; Levine, Michael A MA; Roizen, Jeffrey D JD

Publication Date: 2020-05-01

Variant appearance in text: CYP2R1: Arg455Trp; rs146366698

PubMed Link: 32115644

Variant Present in the following documents:

• Main text

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs146366698

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: CYP2R1: R455W

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: CYP2R1: R455W

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

View BVdb publication page