Publications:

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Association between Variants in the OCA2-HERC2 Region and Blue Eye Colour in HERC2 rs12913832 AA and AG Individuals.

Genes

Salvo, Nina Mjølsnes NM; Andersen, Jeppe Dyrberg JD; Janssen, Kirstin K; Meyer, Olivia Luxford OL; Berg, Thomas T; Børsting, Claus C; Olsen, Gunn-Hege GH

Publication Date: 2023-03-11

Variant appearance in text: rs1800401

PubMed Link: 36980970

Variant Present in the following documents:

• Main text
• genes-14-00698.pdf

View BVdb publication page

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Integrative single-cell analysis reveals transcriptional and epigenetic regulatory features of clear cell renal cell carcinoma.

Cancer Research

Yu, Zhenyuan Z; Lv, Yufang Y; Su, Cheng C; Lu, Wenhao W; Zhang, RuiRui R; Li, Jiaping J; Guo, Bingqian B; Yan, Haibiao H; Liu, Deyun D; Yang, Zhanbin Z; Mi, Hua H; Mo, Linjian L; Guo, Yi Y; Feng, Wenyu W; Xu, Haotian H; Peng, Wenyi W; Cheng, Jiwen J; Nan, Aruo A; Mo, Zengnan Z

Publication Date: 2023-01-06

Variant appearance in text: OCA2: R305W; rs1800401

PubMed Link: 36607615

Variant Present in the following documents:

• can-22-2224_table_s8_suppst8.xlsx, sheet 16

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: rs1800401

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

View BVdb publication page

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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: OCA2: R305W; rs1800401

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Association of Melanoma-Risk Variants with Primary Melanoma Tumor Prognostic Characteristics and Melanoma-Specific Survival in the GEM Study.

Current Oncology (Toronto, Ont.)

Davari, Danielle R DR; Orlow, Irene I; Kanetsky, Peter A PA; Luo, Li L; Busam, Klaus J KJ; Sharma, Ajay A; Kricker, Anne A; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Gibbs, David C DC; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Thomas, Nancy E NE

Publication Date: 2021-11-16

Variant appearance in text: rs1800401

PubMed Link: 34898573

Variant Present in the following documents:

• Main text
• curroncol-28-00401.pdf

View BVdb publication page

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Association of Melanoma-Risk Variants with Primary Melanoma Tumor Prognostic Characteristics and Melanoma-Specific Survival in the GEM Study.

Current Oncology (Toronto, Ont.)

Davari, Danielle R DR; Orlow, Irene I; Kanetsky, Peter A PA; Luo, Li L; Busam, Klaus J KJ; Sharma, Ajay A; Kricker, Anne A; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Gibbs, David C DC; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Thomas, Nancy E NE

Publication Date: 2021-11-16

Variant appearance in text: rs1800401

PubMed Link: 34898573

Variant Present in the following documents:

• Main text
• curroncol-28-00401.pdf

View BVdb publication page

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Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology

Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC

Publication Date: 2021

Variant appearance in text: OCA2: R305W

PubMed Link: 34858801

Variant Present in the following documents:

• Table_1.xls, sheet 1

View BVdb publication page

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Genotype-Phenotype of Isolated Foveal Hypoplasia in a Large Cohort: Minor Iris Changes as an Indicator of PAX6 Involvement.

Investigative Ophthalmology & Visual Science

Jiang, Yi Y; Li, Shiqiang S; Xiao, Xueshan X; Sun, Wenmin W; Zhang, Qingjiong Q

Publication Date: 2021-08-02

Variant appearance in text: OCA2: 913C>T; Arg305Trp

PubMed Link: 34415986

Variant Present in the following documents:

• iovs-62-10-23_s007.xlsx, sheet 1

View BVdb publication page

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A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects.

Nature Communications

Choquet, Hélène H; Melles, Ronald B RB; Anand, Deepti D; Yin, Jie J; Cuellar-Partida, Gabriel G; Wang, Wei W; , ; Hoffmann, Thomas J TJ; Nair, K Saidas KS; Hysi, Pirro G PG; Lachke, Salil A SA; Jorgenson, Eric E

Publication Date: 2021-06-14

Variant appearance in text: OCA2: R305W

PubMed Link: 34127677

Variant Present in the following documents:

• 41467_2021_Article_23873.pdf

View BVdb publication page

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Prediction of Eye Colour in Scandinavians Using the EyeColour 11 (EC11) SNP Set.

Genes

Meyer, Olivia Strunge OS; Salvo, Nina Mjølsnes NM; Kjærbye, Anne A; Kjersem, Marianne M; Andersen, Mikkel Meyer MM; Sørensen, Erik E; Ullum, Henrik H; Janssen, Kirstin K; Morling, Niels N; Børsting, Claus C; Olsen, Gunn-Hege GH; Andersen, Jeppe Dyrberg JD

Publication Date: 2021-05-27

Variant appearance in text: rs1800401

PubMed Link: 34071952

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: OCA2: 913C>T; R305W; rs1800401

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 3

View BVdb publication page

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The Genetic Germline Background of Single and Multiple Primary Melanomas.

Frontiers In Molecular Biosciences

De Summa, Simona S; Lasorella, Antonia A; Strippoli, Sabino S; Giudice, Giuseppe G; Guida, Gabriella G; Elia, Rossella R; Nacchiero, Eleonora E; Azzariti, Amalia A; Silvestris, Nicola N; Guida, Michele M; Guida, Stefania S; Tommasi, Stefania S; Pinto, Rosamaria R

Publication Date: 2020

Variant appearance in text: OCA2: R305W

PubMed Link: 33748184

Variant Present in the following documents:

• Main text
• fmolb-07-555630.pdf

View BVdb publication page

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Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)

Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S

Publication Date: 2021-06

Variant appearance in text: OCA2: 913C>T; R305W; rs1800401

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 1
• CNR2-4-e1335-s003.xlsx, sheet 2

View BVdb publication page

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Dissecting dynamics and differences of selective pressures in the evolution of human pigmentation.

Biology Open

Huang, Xin X; Wang, Sijia S; Jin, Li L; He, Yungang Y

Publication Date: 2021-02-09

Variant appearance in text: rs1800401

PubMed Link: 33495209

Variant Present in the following documents:

• Main text
• biolopen-10-056523.pdf

View BVdb publication page

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Investigating DNA methylation as a potential mediator between pigmentation genes, pigmentary traits and skin cancer.

Pigment Cell & Melanoma Research

Bonilla, Carolina C; Bertoni, Bernardo B; Min, Josine L JL; Hemani, Gibran G; , ; Elliott, Hannah R HR

Publication Date: 2021-09

Variant appearance in text: OCA2: Arg305Trp; rs1800401

PubMed Link: 33248005

Variant Present in the following documents:

• Main text
• PCMR-34-892.pdf

View BVdb publication page

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Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants.

Plos One

Rayner, Jenna E JE; Duffy, David L DL; Smit, Darren J DJ; Jagirdar, Kasturee K; Lee, Katie J KJ; De'Ambrosis, Brian B; Smithers, B Mark BM; McMeniman, Erin K EK; McInerney-Leo, Aideen M AM; Schaider, Helmut H; Stark, Mitchell S MS; Soyer, H Peter HP; Sturm, Richard A RA

Publication Date: 2020

Variant appearance in text: OCA2: R305W

PubMed Link: 32966289

Variant Present in the following documents:

• Main text

View BVdb publication page

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The distinctive geographic patterns of common pigmentation variants at the OCA2 gene.

Scientific Reports

Kidd, Kenneth K KK; Pakstis, Andrew J AJ; Donnelly, Michael P MP; Bulbul, Ozlem O; Cherni, Lotfi L; Gurkan, Cemal C; Kang, Longli L; Li, Hui H; Yun, Libing L; Paschou, Peristera P; Meiklejohn, Kelly A KA; Haigh, Eva E; Speed, William C WC

Publication Date: 2020-09-22

Variant appearance in text: OCA2: Arg305Trp; rs1800401

PubMed Link: 32963319

Variant Present in the following documents:

• Main text
• 41598_2020_Article_72262.pdf

View BVdb publication page

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Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data.

Bmc Genomics

Pośpiech, Ewelina E; Kukla-Bartoszek, Magdalena M; Karłowska-Pik, Joanna J; Zieliński, Piotr P; Woźniak, Anna A; Boroń, Michał M; Dąbrowski, Michał M; Zubańska, Magdalena M; Jarosz, Agata A; Grzybowski, Tomasz T; Płoski, Rafał R; Spólnicka, Magdalena M; Branicki, Wojciech W

Publication Date: 2020-08-05

Variant appearance in text: rs1800401

PubMed Link: 32758128

Variant Present in the following documents:

• 12864_2020_6926_MOESM1_ESM.pdf

View BVdb publication page

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Membrane transport proteins in melanosomes: Regulation of ions for pigmentation.

Biochimica Et Biophysica Acta. Biomembranes

Wiriyasermkul, Pattama P; Moriyama, Satomi S; Nagamori, Shushi S

Publication Date: 2020-12-01

Variant appearance in text: OCA2: R305W

PubMed Link: 32333855

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: OCA2: 913C>T; Arg305Trp; rs1800401

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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A novel porcine model reproduces human oculocutaneous albinism type II.

Cell Discovery

Zhang, Ying Y; Hong, Qianlong Q; Cao, Chunwei C; Yang, Lizhu L; Li, Yongshun Y; Hai, Tang T; Zhang, Hongyong H; Zhou, Qi Q; Sui, Ruifang R; Zhao, Jianguo J

Publication Date: 2019

Variant appearance in text: OCA2: R305W

PubMed Link: 31636960

Variant Present in the following documents:

• 41421_2019_Article_117.pdf

View BVdb publication page

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Introducing the first whole genomes of nationals from the United Arab Emirates.

Scientific Reports

AlSafar, Habiba S HS; Al-Ali, Mariam M; Elbait, Gihan Daw GD; Al-Maini, Mustafa H MH; Ruta, Dymitr D; Peramo, Braulio B; Henschel, Andreas A; Tay, Guan K GK

Publication Date: 2019-10-11

Variant appearance in text: OCA2: R305W; rs1800401

PubMed Link: 31604968

Variant Present in the following documents:

• 41598_2019_50876_MOESM1_ESM.xlsx, sheet 1
• 41598_2019_50876_MOESM1_ESM.xlsx, sheet 2

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: OCA2: R305W; rs1800401

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Inherited Melanoma Risk Variants Associated with Histopathologically Amelanotic Melanoma.

The Journal Of Investigative Dermatology

Gibbs, David Corley DC; Orlow, Irene I; Vernali, Steven S; Powell, Helen B HB; Kanetsky, Peter A PA; Luo, Li L; Busam, Klaus J KJ; Sharma, Ajay A; Kricker, Anne A; Armstrong, Bruce K BK; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Thomas, Nancy E NE; ,

Publication Date: 2020-04

Variant appearance in text: rs1800401

PubMed Link: 31568773

Variant Present in the following documents:

• Main text

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: OCA2: 913C>T; Arg305Trp

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: OCA2: R305W; rs1800401

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5

View BVdb publication page

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A study in scarlet: MC1R as the main predictor of red hair and exemplar of the flip-flop effect.

Human Molecular Genetics

Zorina-Lichtenwalter, Katerina K; Lichtenwalter, Ryan N RN; Zaykin, Dima V DV; Parisien, Marc M; Gravel, Simon S; Bortsov, Andrey A; Diatchenko, Luda L

Publication Date: 2019-06-15

Variant appearance in text: rs1800401

PubMed Link: 30657907

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Henle Fiber Layer in Albinism: Comparison to Normal and Relationship to Outer Nuclear Layer Thickness and Foveal Cone Density.

Investigative Ophthalmology & Visual Science

Lee, Daniel J DJ; Woertz, Erica N EN; Visotcky, Alexis A; Wilk, Melissa A MA; Heitkotter, Heather H; Linderman, Rachel E RE; Tarima, Sergey S; Summers, C Gail CG; Brooks, Brian P BP; Brilliant, Murray H MH; Antony, Bhavna J BJ; Lujan, Brandon J BJ; Carroll, Joseph J

Publication Date: 2018-11-01

Variant appearance in text: OCA2: 913C>T; R305W

PubMed Link: 30398625

Variant Present in the following documents:

• i1552-5783-59-13-5336.pdf

View BVdb publication page

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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: OCA2: R305W; rs1800401

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: OCA2: 913C>T; R305W; rs1800401

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 4

View BVdb publication page

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Ancient genomes from North Africa evidence prehistoric migrations to the Maghreb from both the Levant and Europe.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Fregel, Rosa R; Méndez, Fernando L FL; Bokbot, Youssef Y; Martín-Socas, Dimas D; Camalich-Massieu, María D MD; Santana, Jonathan J; Morales, Jacob J; Ávila-Arcos, María C MC; Underhill, Peter A PA; Shapiro, Beth B; Wojcik, Genevieve G; Rasmussen, Morten M; Soares, André E R AER; Kapp, Joshua J; Sockell, Alexandra A; Rodríguez-Santos, Francisco J FJ; Mikdad, Abdeslam A; Trujillo-Mederos, Aioze A; Bustamante, Carlos D CD

Publication Date: 2018-06-26

Variant appearance in text: rs1800401

PubMed Link: 29895688

Variant Present in the following documents:

• Main text

View BVdb publication page

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Inherited Genetic Variants Associated with Melanoma BRAF/NRAS Subtypes.

The Journal Of Investigative Dermatology

Thomas, Nancy E NE; Edmiston, Sharon N SN; Orlow, Irene I; Kanetsky, Peter A PA; Luo, Li L; Gibbs, David C DC; Parrish, Eloise A EA; Hao, Honglin H; Busam, Klaus J KJ; Armstrong, Bruce K BK; Kricker, Anne A; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Conway, Kathleen K; ,

Publication Date: 2018-11

Variant appearance in text: rs1800401

PubMed Link: 29753029

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional melanoma-risk variant IRF4 rs12203592 associated with Breslow thickness: a pooled international study of primary melanomas.

The British Journal Of Dermatology

Gibbs, D C DC; Ward, S V SV; Orlow, I I; Cadby, G G; Kanetsky, P A PA; Luo, L L; Busam, K J KJ; Kricker, A A; Armstrong, B K BK; Cust, A E AE; Anton-Culver, H H; Gallagher, R P RP; Zanetti, R R; Rosso, S S; Sacchetto, L L; Ollila, D W DW; Begg, C B CB; Berwick, M M; Thomas, N E NE; ,

Publication Date: 2017-11

Variant appearance in text: rs1800401

PubMed Link: 28667740

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Delineating the genetic heterogeneity of OCA in Hungarian patients.

European Journal Of Medical Research

Fábos, Beáta B; Farkas, Katalin K; Tóth, Lola L; Sulák, Adrienn A; Tripolszki, Kornélia K; Tihanyi, Mariann M; Németh, Réka R; Vas, Krisztina K; Csoma, Zsanett Z; Kemény, Lajos L; Széll, Márta M; Nagy, Nikoletta N

Publication Date: 2017-06-19

Variant appearance in text: OCA2: 913C>T; Arg305Trp

PubMed Link: 28629449

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: OCA2: 913C>T; Arg305Trp

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Global skin colour prediction from DNA.

Human Genetics

Walsh, Susan S; Chaitanya, Lakshmi L; Breslin, Krystal K; Muralidharan, Charanya C; Bronikowska, Agnieszka A; Pospiech, Ewelina E; Koller, Julia J; Kovatsi, Leda L; Wollstein, Andreas A; Branicki, Wojciech W; Liu, Fan F; Kayser, Manfred M

Publication Date: 2017-07

Variant appearance in text: rs1800401

PubMed Link: 28500464

Variant Present in the following documents:

• Main text
• 439_2017_Article_1808.pdf

View BVdb publication page

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Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.

Cell & Bioscience

Gao, Jackson J; D'Souza, Leera L; Wetherby, Keith K; Antolik, Christian C; Reeves, Melissa M; Adams, David R DR; Tumminia, Santa S; Wang, Xinjing X

Publication Date: 2017

Variant appearance in text: OCA2: 913C>T; R305W

PubMed Link: 28451379

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.

Bmc Medical Genomics

Fang, Han H; Wu, Yiyang Y; Yang, Hui H; Yoon, Margaret M; Jiménez-Barrón, Laura T LT; Mittelman, David D; Robison, Reid R; Wang, Kai K; Lyon, Gholson J GJ

Publication Date: 2017-02-23

Variant appearance in text: OCA2: 913C>T; R305W

PubMed Link: 28228131

Variant Present in the following documents:

• 12920_2017_246_MOESM2_ESM.pdf

View BVdb publication page

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The Anatomy to Genomics (ATG) Start Genetics medical school initiative: incorporating exome sequencing data from cadavers used for Anatomy instruction into the first year curriculum.

Bmc Medical Genomics

Gerhard, Glenn S GS; Jin, Qunyan Q; Paynton, Barbara V BV; Popoff, Steven N SN

Publication Date: 2016-10-06

Variant appearance in text: rs1800401

PubMed Link: 27716216

Variant Present in the following documents:

• 12920_2016_223_MOESM1_ESM.pdf

View BVdb publication page

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Importance of nonsynonymous OCA2 variants in human eye color prediction.

Molecular Genetics & Genomic Medicine

Andersen, Jeppe D JD; Pietroni, Carlotta C; Johansen, Peter P; Andersen, Mikkel M MM; Pereira, Vania V; Børsting, Claus C; Morling, Niels N

Publication Date: 2016-07

Variant appearance in text: OCA2: Arg305Trp; rs1800401

PubMed Link: 27468418

Variant Present in the following documents:

• Main text
• MGG3-4-420.pdf

View BVdb publication page

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Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Scientific Reports

Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I

Publication Date: 2016-07-26

Variant appearance in text: OCA2: R305W; rs1800401

PubMed Link: 27456059

Variant Present in the following documents:

• srep30457-s2.xls, sheet 2
• srep30457-s2.xls, sheet 1

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: OCA2: R305W; rs1800401

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

Plos One

Yang, Liping L; Cui, Hui H; Yin, Xiaobei X; Dou, Hongliang H; Zhao, Lin L; Chen, Ningning N; Zhang, Jinlu J; Zhang, Huirong H; Li, Genlin G; Ma, Zhizhong Z

Publication Date: 2015

Variant appearance in text: OCA2: 913C>T; R305W; rs1800401

PubMed Link: 26496393

Variant Present in the following documents:

• pone.0140684.s004.xlsx, sheet 5

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: OCA2: R305W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Inherited genetic variants associated with occurrence of multiple primary melanoma.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Gibbs, David C DC; Orlow, Irene I; Kanetsky, Peter A PA; Luo, Li L; Kricker, Anne A; Armstrong, Bruce K BK; Anton-Culver, Hoda H; Gruber, Stephen B SB; Marrett, Loraine D LD; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Dwyer, Terence T; Sharma, Ajay A; La Pilla, Emily E; From, Lynn L; Busam, Klaus J KJ; Cust, Anne E AE; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Thomas, Nancy E NE; ,

Publication Date: 2015-06

Variant appearance in text: rs1800401

PubMed Link: 25837821

Variant Present in the following documents:

• Main text

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: OCA2: R305W; rs1800401

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: OCA2: R305W

PubMed Link: 25333361

Variant Present in the following documents:

• pone.0109576.s002.xls, sheet 3

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Genetic factors associated with naevus count and dermoscopic patterns: preliminary results from the Study of Nevi in Children (SONIC).

The British Journal Of Dermatology

Orlow, I I; Satagopan, J M JM; Berwick, M M; Enriquez, H L HL; White, K A M KA; Cheung, K K; Dusza, S W SW; Oliveria, S A SA; Marchetti, M A MA; Scope, A A; Marghoob, A A AA; Halpern, A C AC

Publication Date: 2015-04

Variant appearance in text: rs1800401

PubMed Link: 25307738

Variant Present in the following documents:

• bjd0172-1081-sd1.pdf

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Mutational analysis of oculocutaneous albinism: a compact review.

Biomed Research International

Kamaraj, Balu B; Purohit, Rituraj R

Publication Date: 2014

Variant appearance in text: OCA2: R305W

PubMed Link: 25093188

Variant Present in the following documents:

• Main text

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: OCA2: R305W; rs1800401

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

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Implications of the admixture process in skin color molecular assessment.

Plos One

Cerqueira, Caio Cesar Silva de CC; Hünemeier, Tábita T; Gomez-Valdés, Jorge J; Ramallo, Virgínia V; Volasko-Krause, Carla Daiana CD; Barbosa, Ana Angélica Leal AA; Vargas-Pinilla, Pedro P; Dornelles, Rodrigo Ciconet RC; Longo, Danaê D; Rothhammer, Francisco F; Bedoya, Gabriel G; Canizales-Quinteros, Samuel S; Acuña-Alonzo, Victor V; Gallo, Carla C; Poletti, Giovanni G; González-José, Rolando R; Salzano, Francisco Mauro FM; Callegari-Jacques, Sídia Maria SM; Schuler-Faccini, Lavínia L; Ruiz-Linares, Andrés A; Cátira Bortolini, Maria M; ,

Publication Date: 2014

Variant appearance in text: rs1800401

PubMed Link: 24809478

Variant Present in the following documents:

• Main text
• pone.0096886.pdf

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Haplotype differences for copy number variants in the 22q11.23 region among human populations: a pigmentation-based model for selective pressure.

European Journal Of Human Genetics : Ejhg

Polimanti, Renato R; Piacentini, Sara S; Iorio, Andrea A; De Angelis, Flavio F; Kozlov, Andrey A; Novelletto, Andrea A; Fuciarelli, Maria M

Publication Date: 2015-01

Variant appearance in text: rs1800401

PubMed Link: 24667780

Variant Present in the following documents:

• Main text

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Association of genetic variants with self-assessed color categories in Brazilians.

Plos One

Durso, Danielle Fernandes DF; Bydlowski, Sergio Paulo SP; Hutz, Mara Helena MH; Suarez-Kurtz, Guilherme G; Magalhães, Tiago R TR; Pena, Sérgio Danilo Junho SD

Publication Date: 2014

Variant appearance in text: rs1800401

PubMed Link: 24416183

Variant Present in the following documents:

• Main text
• pone.0083926.pdf

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Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree.

Journal Of Dermatological Science

Hawkes, Jason E JE; Cassidy, Pamela B PB; Manga, Prashiela P; Boissy, Raymond E RE; Goldgar, David D; Cannon-Albright, Lisa L; Florell, Scott R SR; Leachman, Sancy A SA

Publication Date: 2013-01

Variant appearance in text: rs1800401

PubMed Link: 23103111

Variant Present in the following documents:

• Main text

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Sequencing and analysis of a South Asian-Indian personal genome.

Bmc Genomics

Gupta, Ravi R; Ratan, Aakrosh A; Rajesh, Changanamkandath C; Chen, Rong R; Kim, Hie Lim HL; Burhans, Richard R; Miller, Webb W; Santhosh, Sam S; Davuluri, Ramana V RV; Butte, Atul J AJ; Schuster, Stephan C SC; Seshagiri, Somasekar S; Thomas, George G

Publication Date: 2012-08-31

Variant appearance in text: rs1800401

PubMed Link: 22938532

Variant Present in the following documents:

• 1471-2164-13-440-S2.xlsx, sheet 11

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Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma.

Nature Genetics

Krauthammer, Michael M; Kong, Yong Y; Ha, Byung Hak BH; Evans, Perry P; Bacchiocchi, Antonella A; McCusker, James P JP; Cheng, Elaine E; Davis, Matthew J MJ; Goh, Gerald G; Choi, Murim M; Ariyan, Stephan S; Narayan, Deepak D; Dutton-Regester, Ken K; Capatana, Ana A; Holman, Edna C EC; Bosenberg, Marcus M; Sznol, Mario M; Kluger, Harriet M HM; Brash, Douglas E DE; Stern, David F DF; Materin, Miguel A MA; Lo, Roger S RS; Mane, Shrikant S; Ma, Shuangge S; Kidd, Kenneth K KK; Hayward, Nicholas K NK; Lifton, Richard P RP; Schlessinger, Joseph J; Boggon, Titus J TJ; Halaban, Ruth R

Publication Date: 2012-09

Variant appearance in text: rs1800401

PubMed Link: 22842228

Variant Present in the following documents:

• Main text
• nihms390374.pdf

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Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism.

Molecular Vision

Preising, Markus N MN; Forster, Hedwig H; Gonser, Miriam M; Lorenz, Birgit B

Publication Date: 2011-04-15

Variant appearance in text: OCA2: R305W

PubMed Link: 21541274

Variant Present in the following documents:

• Main text
• mv-v17-939.pdf

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Model-based prediction of human hair color using DNA variants.

Human Genetics

Branicki, Wojciech W; Liu, Fan F; van Duijn, Kate K; Draus-Barini, Jolanta J; Pośpiech, Ewelina E; Walsh, Susan S; Kupiec, Tomasz T; Wojas-Pelc, Anna A; Kayser, Manfred M

Publication Date: 2011-04

Variant appearance in text: rs1800401

PubMed Link: 21197618

Variant Present in the following documents:

• Main text
• 439_2010_Article_939.pdf

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Predicting phenotype from genotype: normal pigmentation.

Journal Of Forensic Sciences

Valenzuela, Robert K RK; Henderson, Miquia S MS; Walsh, Monica H MH; Garrison, Nanibaa' A NA; Kelch, Jessica T JT; Cohen-Barak, Orit O; Erickson, Drew T DT; John Meaney, F F; Bruce Walsh, J J; Cheng, Keith C KC; Ito, Shosuke S; Wakamatsu, Kazumasa K; Frudakis, Tony T; Thomas, Matthew M; Brilliant, Murray H MH

Publication Date: 2010-03-01

Variant appearance in text: rs1800401

PubMed Link: 20158590

Variant Present in the following documents:

• Main text

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