Publications:

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Whole‑exome sequencing identifies a novel mutation of SLC20A2 (c.C1849T) as a possible cause of hereditary multiple exostoses in a Chinese family.

Molecular Medicine Reports

Li, Yiqiang Y; Lin, Xuemei X; Zhu, Mingwei M; Li, Jingchun J; Yuan, Zhe Z; Xu, Hongwen H

Publication Date: 2020-09

Variant appearance in text: rs728405

PubMed Link: 32705272

Variant Present in the following documents:

• Supplementary_Data1.xlsx, sheet 1

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Genomic landscape of high-grade meningiomas.

Npj Genomic Medicine

Bi, Wenya Linda WL; Greenwald, Noah F NF; Abedalthagafi, Malak M; Wala, Jeremiah J; Gibson, Will J WJ; Agarwalla, Pankaj K PK; Horowitz, Peleg P; Schumacher, Steven E SE; Esaulova, Ekaterina E; Mei, Yu Y; Chevalier, Aaron A; Ducar, Matthew M; Thorner, Aaron R AR; van Hummelen, Paul P; Stemmer-Rachamimov, Anat A; Artyomov, Maksym M; Al-Mefty, Ossama O; Dunn, Gavin P GP; Santagata, Sandro S; Dunn, Ian F IF; Beroukhim, Rameen R

Publication Date: 2017

Variant appearance in text: rs728405

PubMed Link: 28713588

Variant Present in the following documents:

• 41525_2017_14_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Distribution of two OCA2 polymorphisms associated with pigmentation in East-Asian populations.

Human Genome Variation

Murray, Nicole N; Norton, Heather L HL; Parra, Esteban J EJ

Publication Date: 2015

Variant appearance in text: rs728405

PubMed Link: 27081560

Variant Present in the following documents:

• Main text
• hgv201558.pdf

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Web-based, participant-driven studies yield novel genetic associations for common traits.

Plos Genetics

Eriksson, Nicholas N; Macpherson, J Michael JM; Tung, Joyce Y JY; Hon, Lawrence S LS; Naughton, Brian B; Saxonov, Serge S; Avey, Linda L; Wojcicki, Anne A; Pe'er, Itsik I; Mountain, Joanna J

Publication Date: 2010-06-24

Variant appearance in text: rs728405

PubMed Link: 20585627

Variant Present in the following documents:

• Main text
• pgen.1000993.pdf
• pgen.1000993.s007.pdf

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Digital quantification of human eye color highlights genetic association of three new loci.

Plos Genetics

Liu, Fan F; Wollstein, Andreas A; Hysi, Pirro G PG; Ankra-Badu, Georgina A GA; Spector, Timothy D TD; Park, Daniel D; Zhu, Gu G; Larsson, Mats M; Duffy, David L DL; Montgomery, Grant W GW; Mackey, David A DA; Walsh, Susan S; Lao, Oscar O; Hofman, Albert A; Rivadeneira, Fernando F; Vingerling, Johannes R JR; Uitterlinden, André G AG; Martin, Nicholas G NG; Hammond, Christopher J CJ; Kayser, Manfred M

Publication Date: 2010-05-06

Variant appearance in text: rs728405

PubMed Link: 20463881

Variant Present in the following documents:

• Main text
• pgen.1000934.pdf

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Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.

American Journal Of Human Genetics

Kayser, Manfred M; Liu, Fan F; Janssens, A Cecile J W AC; Rivadeneira, Fernando F; Lao, Oscar O; van Duijn, Kate K; Vermeulen, Mark M; Arp, Pascal P; Jhamai, Mila M MM; van Ijcken, Wilfred F J WF; den Dunnen, Johan T JT; Heath, Simon S; Zelenika, Diana D; Despriet, Dominiek D G DD; Klaver, Caroline C W CC; Vingerling, Johannes R JR; de Jong, Paulus T V M PT; Hofman, Albert A; Aulchenko, Yurii S YS; Uitterlinden, Andre G AG; Oostra, Ben A BA; van Duijn, Cornelia M CM

Publication Date: 2008-02

Variant appearance in text: rs728405

PubMed Link: 18252221

Variant Present in the following documents:

• Main text

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A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.

American Journal Of Human Genetics

Duffy, David L DL; Montgomery, Grant W GW; Chen, Wei W; Zhao, Zhen Zhen ZZ; Le, Lien L; James, Michael R MR; Hayward, Nicholas K NK; Martin, Nicholas G NG; Sturm, Richard A RA

Publication Date: 2007-02

Variant appearance in text: rs728405

PubMed Link: 17236130

Variant Present in the following documents:

• Main text

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