Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs2733832

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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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: rs2733832

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: rs2733832

PubMed Link: 34898573

Variant Present in the following documents:

• Main text
• curroncol-28-00401.pdf

View BVdb publication page

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Genetic loci associated with skin pigmentation in African Americans and their effects on vitamin D deficiency.

Plos Genetics

Batai, Ken K; Cui, Zuxi Z; Arora, Amit A; Shah-Williams, Ebony E; Hernandez, Wenndy W; Ruden, Maria M; Hollowell, Courtney M P CMP; Hooker, Stanley E SE; Bathina, Madhavi M; Murphy, Adam B AB; Bonilla, Carolina C; Kittles, Rick A RA

Publication Date: 2021-02

Variant appearance in text: rs2733832

PubMed Link: 33600456

Variant Present in the following documents:

• Main text
• pgen.1009319.pdf

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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: rs2733832

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_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
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

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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: rs2733832

PubMed Link: 31568773

Variant Present in the following documents:

• Main text

View BVdb publication page

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A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia.

Nature Communications

Adhikari, Kaustubh K; Mendoza-Revilla, Javier J; Sohail, Anood A; Fuentes-Guajardo, Macarena M; Lampert, Jodie J; Chacón-Duque, Juan Camilo JC; Hurtado, Malena M; Villegas, Valeria V; Granja, Vanessa V; Acuña-Alonzo, Victor V; Jaramillo, Claudia C; Arias, William W; Lozano, Rodrigo Barquera RB; Everardo, Paola P; Gómez-Valdés, Jorge J; Villamil-Ramírez, Hugo H; Silva de Cerqueira, Caio C CC; Hunemeier, Tábita T; Ramallo, Virginia V; Schuler-Faccini, Lavinia L; Salzano, Francisco M FM; Gonzalez-José, Rolando R; Bortolini, Maria-Cátira MC; Canizales-Quinteros, Samuel S; Gallo, Carla C; Poletti, Giovanni G; Bedoya, Gabriel G; Rothhammer, Francisco F; Tobin, Desmond J DJ; Fumagalli, Matteo M; Balding, David D; Ruiz-Linares, Andrés A

Publication Date: 2019-01-21

Variant appearance in text: rs2733832

PubMed Link: 30664655

Variant Present in the following documents:

• 41467_2018_8147_MOESM1_ESM.pdf

View BVdb publication page

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Clinical and Biological Characterization of Skin Pigmentation Diversity and Its Consequences on UV Impact.

International Journal Of Molecular Sciences

Del Bino, Sandra S; Duval, Christine C; Bernerd, Françoise F

Publication Date: 2018-09-08

Variant appearance in text: rs2733832

PubMed Link: 30205563

Variant Present in the following documents:

• Main text
• ijms-19-02668.pdf

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: rs2733832

PubMed Link: 29753029

Variant Present in the following documents:

• Main text

View BVdb publication page

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Adaptation of human skin color in various populations.

Hereditas

Deng, Lian L; Xu, Shuhua S

Publication Date: 2018

Variant appearance in text: rs2733832

PubMed Link: 28701907

Variant Present in the following documents:

• Main text
• 41065_2017_Article_36.pdf

View BVdb publication page

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Crowdsourced direct-to-consumer genomic analysis of a family quartet.

Bmc Genomics

Corpas, Manuel M; Valdivia-Granda, Willy W; Torres, Nazareth N; Greshake, Bastian B; Coletta, Alain A; Knaus, Alexej A; Harrison, Andrew P AP; Cariaso, Mike M; Moran, Federico F; Nielsen, Fiona F; Swan, Daniel D; Weiss Solís, David Y DY; Krawitz, Peter P; Schacherer, Frank F; Schols, Peter P; Yang, Huangming H; Borry, Pascal P; Glusman, Gustavo G; Robinson, Peter N PN

Publication Date: 2015-11-07

Variant appearance in text: rs2733832

PubMed Link: 26547235

Variant Present in the following documents:

• Main text
• 12864_2015_Article_1973.pdf

View BVdb publication page

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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: rs2733832

PubMed Link: 25837821

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs2733832

PubMed Link: 25307738

Variant Present in the following documents:

• bjd0172-1081-sd1.pdf

View BVdb publication page

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Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions.

International Journal Of Cancer

Barrett, Jennifer H JH; Taylor, John C JC; Bright, Chloe C; Harland, Mark M; Dunning, Alison M AM; Akslen, Lars A LA; Andresen, Per A PA; Avril, Marie-Françoise MF; Azizi, Esther E; Bianchi Scarrà, Giovanna G; Brossard, Myriam M; Brown, Kevin M KM; Dębniak, Tadeusz T; Elder, David E DE; Friedman, Eitan E; Ghiorzo, Paola P; Gillanders, Elizabeth M EM; Gruis, Nelleke A NA; Hansson, Johan J; Helsing, Per P; Hočevar, Marko M; Höiom, Veronica V; Ingvar, Christian C; Landi, Maria Teresa MT; Lang, Julie J; Lathrop, G Mark GM; Lubiński, Jan J; Mackie, Rona M RM; Molven, Anders A; Novaković, Srdjan S; Olsson, Håkan H; Puig, Susana S; Puig-Butille, Joan Anton JA; van der Stoep, Nienke N; van Doorn, Remco R; van Workum, Wilbert W; Goldstein, Alisa M AM; Kanetsky, Peter A PA; Pharoah, Paul D P PD; Demenais, Florence F; Hayward, Nicholas K NK; Newton Bishop, Julia A JA; Bishop, D Timothy DT; Iles, Mark M MM; ,

Publication Date: 2015-03-15

Variant appearance in text: rs2733832

PubMed Link: 25077817

Variant Present in the following documents:

• Main text
• ijc0136-1351.pdf

View BVdb publication page

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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: rs2733832

PubMed Link: 24667780

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs2733832

PubMed Link: 24416183

Variant Present in the following documents:

• Main text
• pone.0083926.pdf

View BVdb publication page

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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: rs2733832

PubMed Link: 23103111

Variant Present in the following documents:

• Main text

View BVdb publication page

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The timing of pigmentation lightening in Europeans.

Molecular Biology And Evolution

Beleza, Sandra S; Santos, António M AM; McEvoy, Brian B; Alves, Isabel I; Martinho, Cláudia C; Cameron, Emily E; Shriver, Mark D MD; Parra, Esteban J EJ; Rocha, Jorge J

Publication Date: 2013-01

Variant appearance in text: rs2733832

PubMed Link: 22923467

Variant Present in the following documents:

• Main text

View BVdb publication page

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Contrasting signals of positive selection in genes involved in human skin-color variation from tests based on SNP scans and resequencing.

Investigative Genetics

de Gruijter, Johanna Maria JM; Lao, Oscar O; Vermeulen, Mark M; Xue, Yali Y; Woodwark, Cara C; Gillson, Christopher J CJ; Coffey, Alison J AJ; Ayub, Qasim Q; Mehdi, S Qasim SQ; Kayser, Manfred M; Tyler-Smith, Chris C

Publication Date: 2011-12-01

Variant appearance in text: rs2733832

PubMed Link: 22133426

Variant Present in the following documents:

• Main text
• 2041-2223-2-24.pdf

View BVdb publication page

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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: rs2733832

PubMed Link: 21197618

Variant Present in the following documents:

• Main text
• 439_2010_Article_939.pdf

View BVdb publication page

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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: rs2733832

PubMed Link: 20158590

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma.

The Journal Of Investigative Dermatology

Duffy, David L DL; Zhao, Zhen Z ZZ; Sturm, Richard A RA; Hayward, Nicholas K NK; Martin, Nicholas G NG; Montgomery, Grant W GW

Publication Date: 2010-02

Variant appearance in text: rs2733832

PubMed Link: 19710684

Variant Present in the following documents:

• Main text

View BVdb publication page

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Complex signatures of selection for the melanogenic loci TYR, TYRP1 and DCT in humans.

Bmc Evolutionary Biology

Alonso, Santos S; Izagirre, Neskuts N; Smith-Zubiaga, Isabel I; Gardeazabal, Jesús J; Díaz-Ramón, José Luís JL; Díaz-Pérez, José Luís JL; Zelenika, Diana D; Boyano, María Dolores MD; Smit, Nico N; de la Rúa, Concepción C

Publication Date: 2008-02-29

Variant appearance in text: rs2733832

PubMed Link: 18312627

Variant Present in the following documents:

• Main text

View BVdb publication page

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A genomewide association study of skin pigmentation in a South Asian population.

American Journal Of Human Genetics

Stokowski, Renee P RP; Pant, P V Krishna PV; Dadd, Tony T; Fereday, Amelia A; Hinds, David A DA; Jarman, Carl C; Filsell, Wendy W; Ginger, Rebecca S RS; Green, Martin R MR; van der Ouderaa, Frans J FJ; Cox, David R DR

Publication Date: 2007-12

Variant appearance in text: rs2733832

PubMed Link: 17999355

Variant Present in the following documents:

• Main text

View BVdb publication page

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