Publications:

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Human profiling from STR and SNP analysis of tropical bed bug, Cimex hemipterus, for forensic science.

Scientific Reports

Lim, Li L; Ab Majid, Abdul Hafiz AH

Publication Date: 2023-01-27

Variant appearance in text: rs1667394

PubMed Link: 36707655

Variant Present in the following documents:

• Main text
• 41598_2023_Article_28774.pdf

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Development and Validation of MPS-Based System for Human Appearance Prediction in Challenging Forensic Samples.

Genes

Melchionda, Filomena F; Silvestrini, Beatrice B; Robino, Carlo C; Bini, Carla C; Fattorini, Paolo P; Martinez-Labarga, Cristina C; De Angelis, Flavio F; Tagliabracci, Adriano A; Turchi, Chiara C

Publication Date: 2022-09-21

Variant appearance in text: rs1667394

PubMed Link: 36292573

Variant Present in the following documents:

• Main text
• genes-13-01688.pdf

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Investigating the genetic architecture of eye colour in a Canadian cohort.

Iscience

Lona-Durazo, Frida F; Thakur, Rohit R; Pairo-Castineira, Erola E; Funderburk, Karen K; Zhang, Tongwu T; Kovacs, Michael A MA; Choi, Jiyeon J; Jackson, Ian J IJ; Brown, Kevin M KM; Parra, Esteban J EJ

Publication Date: 2022-06-17

Variant appearance in text: rs1667394

PubMed Link: 35712076

Variant Present in the following documents:

• Main text
• main.pdf

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Further insight into the global variability of the OCA2-HERC2 locus for human pigmentation from multiallelic markers.

Scientific Reports

Suarez, Philippe P; Baumer, Karine K; Hall, Diana D

Publication Date: 2021-11-18

Variant appearance in text: rs1667394

PubMed Link: 34795370

Variant Present in the following documents:

• Main text
• 41598_2021_Article_1940.pdf

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Further insight into the global variability of the OCA2-HERC2 locus for human pigmentation from multiallelic markers.

Scientific Reports

Suarez, Philippe P; Baumer, Karine K; Hall, Diana D

Publication Date: 2021-11-18

Variant appearance in text: rs1667394

PubMed Link: 34795370

Variant Present in the following documents:

• Main text
• 41598_2021_Article_1940.pdf

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A large Canadian cohort provides insights into the genetic architecture of human hair colour.

Communications Biology

Lona-Durazo, Frida F; Mendes, Marla M; Thakur, Rohit R; Funderburk, Karen K; Zhang, Tongwu T; Kovacs, Michael A MA; Choi, Jiyeon J; Brown, Kevin M KM; Parra, Esteban J EJ

Publication Date: 2021-11-04

Variant appearance in text: rs1667394

PubMed Link: 34737440

Variant Present in the following documents:

• 42003_2021_2764_MOESM2_ESM.pdf

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Pushing the Boundaries: Forensic DNA Phenotyping Challenged by Single-Cell Sequencing.

Genes

Diepenbroek, Marta M; Bayer, Birgit B; Anslinger, Katja K

Publication Date: 2021-08-30

Variant appearance in text: rs1667394

PubMed Link: 34573344

Variant Present in the following documents:

• genes-12-01362.pdf

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Evaluation of OpenArray™ as a Genotyping Method for Forensic DNA Phenotyping and Human Identification.

Genes

Ragazzo, Michele M; Puleri, Giulio G; Errichiello, Valeria V; Manzo, Laura L; Luzzi, Laura L; Potenza, Saverio S; Strafella, Claudia C; Peconi, Cristina C; Nicastro, Fabio F; Caputo, Valerio V; Giardina, Emiliano E

Publication Date: 2021-02-03

Variant appearance in text: rs1667394

PubMed Link: 33546406

Variant Present in the following documents:

• Main text
• genes-12-00221.pdf

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Genetic ancestry, skin pigmentation, and the risk of cutaneous squamous cell carcinoma in Hispanic/Latino and non-Hispanic white populations.

Communications Biology

Jorgenson, Eric E; Choquet, Hélène H; Yin, Jie J; Hoffmann, Thomas J TJ; Banda, Yambazi Y; Kvale, Mark N MN; Risch, Neil N; Schaefer, Catherine C; Asgari, Maryam M MM

Publication Date: 2020-12-14

Variant appearance in text: rs1667394

PubMed Link: 33318654

Variant Present in the following documents:

• Main text
• 42003_2020_Article_1461.pdf

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Optimizing the genetic prediction of the eye and hair color for North Eurasian populations.

Bmc Genomics

Balanovska, Elena E; Lukianova, Elena E; Kagazezheva, Janet J; Maurer, Andrey A; Leybova, Natalia N; Agdzhoyan, Anastasiya A; Gorin, Igor I; Petrushenko, Valeria V; Zhabagin, Maxat M; Pylev, Vladimir V; Kostryukova, Elena E; Balanovsky, Oleg O

Publication Date: 2020-09-10

Variant appearance in text: rs1667394

PubMed Link: 32912208

Variant Present in the following documents:

• Main text
• 12864_2020_Article_6923.pdf

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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: rs1667394

PubMed Link: 32758128

Variant Present in the following documents:

• 12864_2020_6926_MOESM1_ESM.pdf

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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: rs1667394

PubMed Link: 31604968

Variant Present in the following documents:

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

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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: rs1667394

PubMed Link: 30664655

Variant Present in the following documents:

• 41467_2018_8147_MOESM1_ESM.pdf

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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: rs1667394

PubMed Link: 30205563

Variant Present in the following documents:

• Main text

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Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.

Journal Of Medical Genetics

Galván-Femenía, Iván I; Obón-Santacana, Mireia M; Piñeyro, David D; Guindo-Martinez, Marta M; Duran, Xavier X; Carreras, Anna A; Pluvinet, Raquel R; Velasco, Juan J; Ramos, Laia L; Aussó, Susanna S; Mercader, J M JM; Puig, Lluis L; Perucho, Manuel M; Torrents, David D; Moreno, Victor V; Sumoy, Lauro L; de Cid, Rafael R

Publication Date: 2018-11

Variant appearance in text: rs1667394

PubMed Link: 30166351

Variant Present in the following documents:

• Main text

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Bayesian Network Construction and Genotype-Phenotype Inference Using GWAS Statistics.

Ieee/Acm Transactions On Computational Biology And Bioinformatics

Zhang, Lu L; Pan, Qiuping Q; Wang, Yue Y; Wu, Xintao X; Shi, Xinghua X

Publication Date: 2019

Variant appearance in text: rs1667394

PubMed Link: 29990020

Variant Present in the following documents:

• Main text

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Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability.

Nature Genetics

Hysi, Pirro G PG; Valdes, Ana M AM; Liu, Fan F; Furlotte, Nicholas A NA; Evans, David M DM; Bataille, Veronique V; Visconti, Alessia A; Hemani, Gibran G; McMahon, George G; Ring, Susan M SM; Smith, George Davey GD; Duffy, David L DL; Zhu, Gu G; Gordon, Scott D SD; Medland, Sarah E SE; Lin, Bochao D BD; Willemsen, Gonneke G; Jan Hottenga, Jouke J; Vuckovic, Dragana D; Girotto, Giorgia G; Gandin, Ilaria I; Sala, Cinzia C; Concas, Maria Pina MP; Brumat, Marco M; Gasparini, Paolo P; Toniolo, Daniela D; Cocca, Massimiliano M; Robino, Antonietta A; Yazar, Seyhan S; Hewitt, Alex W AW; Chen, Yan Y; Zeng, Changqing C; Uitterlinden, Andre G AG; Ikram, M Arfan MA; Hamer, Merel A MA; van Duijn, Cornelia M CM; Nijsten, Tamar T; Mackey, David A DA; Falchi, Mario M; Boomsma, Dorret I DI; Martin, Nicholas G NG; , ; Hinds, David A DA; Kayser, Manfred M; Spector, Timothy D TD

Publication Date: 2018-05

Variant appearance in text: rs1667394

PubMed Link: 29662168

Variant Present in the following documents:

• NIHMS76542-supplement-Supplementary_notes_and_tables.pdf

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Identifying the favored mutation in a positive selective sweep.

Nature Methods

Akbari, Ali A; Vitti, Joseph J JJ; Iranmehr, Arya A; Bakhtiari, Mehrdad M; Sabeti, Pardis C PC; Mirarab, Siavash S; Bafna, Vineet V

Publication Date: 2018-04

Variant appearance in text: rs1667394

PubMed Link: 29457793

Variant Present in the following documents:

• NIHMS937763-supplement-3.pdf

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The Genetic Legacy of the Indian Ocean Slave Trade: Recent Admixture and Post-admixture Selection in the Makranis of Pakistan.

American Journal Of Human Genetics

Laso-Jadart, Romuald R; Harmant, Christine C; Quach, Hélène H; Zidane, Nora N; Tyler-Smith, Chris C; Mehdi, Qasim Q; Ayub, Qasim Q; Quintana-Murci, Lluis L; Patin, Etienne E

Publication Date: 2017-12-07

Variant appearance in text: rs1667394

PubMed Link: 29129317

Variant Present in the following documents:

• Main text

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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: rs1667394

PubMed Link: 28701907

Variant Present in the following documents:

• Main text

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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: rs1667394

PubMed Link: 28500464

Variant Present in the following documents:

• Main text
• 439_2017_Article_1808.pdf

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Signatures of natural selection on genetic variants affecting complex human traits.

Applied & Translational Genomics

Zhang, Ge G; Muglia, Louis J LJ; Chakraborty, Ranajit R; Akey, Joshua M JM; Williams, Scott M SM

Publication Date: 2013-12-01

Variant appearance in text: rs1667394

PubMed Link: 27896059

Variant Present in the following documents:

• Main text
• main.pdf

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Genetic markers of pigmentation are novel risk loci for uveal melanoma.

Scientific Reports

Ferguson, Robert R; Vogelsang, Matjaz M; Ucisik-Akkaya, Esma E; Rai, Karan K; Pilarski, Robert R; Martinez, Carlos N CN; Rendleman, Justin J; Kazlow, Esther E; Nagdimov, Khagay K; Osman, Iman I; Klein, Robert J RJ; Davidorf, Frederick H FH; Cebulla, Colleen M CM; Abdel-Rahman, Mohamed H MH; Kirchhoff, Tomas T

Publication Date: 2016-08-08

Variant appearance in text: rs1667394

PubMed Link: 27499155

Variant Present in the following documents:

• Main text
• srep31191.pdf

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Detection and interpretation of shared genetic influences on 42 human traits.

Nature Genetics

Pickrell, Joseph K JK; Berisa, Tomaz T; Liu, Jimmy Z JZ; Ségurel, Laure L; Tung, Joyce Y JY; Hinds, David A DA

Publication Date: 2016-07

Variant appearance in text: rs1667394

PubMed Link: 27182965

Variant Present in the following documents:

• NIHMS780506-supplement-17.pdf

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EigenGWAS: finding loci under selection through genome-wide association studies of eigenvectors in structured populations.

Heredity

Chen, G-B GB; Lee, S H SH; Zhu, Z-X ZX; Benyamin, B B; Robinson, M R MR

Publication Date: 2016-07

Variant appearance in text: rs1667394

PubMed Link: 27142779

Variant Present in the following documents:

• Main text

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Germ line genome editing in clinics: the approaches, objectives and global society.

Briefings In Functional Genomics

Ishii, Tetsuya T

Publication Date: 2017-01

Variant appearance in text: rs1667394

PubMed Link: 26615180

Variant Present in the following documents:

• Main text
• elv053.pdf

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The more the merrier? How a few SNPs predict pigmentation phenotypes in the Northern German population.

European Journal Of Human Genetics : Ejhg

Caliebe, Amke A; Harder, Melanie M; Schuett, Rebecca R; Krawczak, Michael M; Nebel, Almut A; von Wurmb-Schwark, Nicole N

Publication Date: 2016-05

Variant appearance in text: rs1667394

PubMed Link: 26286644

Variant Present in the following documents:

• Main text

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Genome-wide analysis of the genetic regulation of gene expression in human neutrophils.

Nature Communications

Andiappan, Anand Kumar AK; Melchiotti, Rossella R; Poh, Tuang Yeow TY; Nah, Michelle M; Puan, Kia Joo KJ; Vigano, Elena E; Haase, Doreen D; Yusof, Nurhashikin N; San Luis, Boris B; Lum, Josephine J; Kumar, Dilip D; Foo, Shihui S; Zhuang, Li L; Vasudev, Anusha A; Irwanto, Astrid A; Lee, Bernett B; Nardin, Alessandra A; Liu, Hong H; Zhang, Furen F; Connolly, John J; Liu, Jianjun J; Mortellaro, Alessandra A; Wang, De Yun Y; Poidinger, Michael M; Larbi, Anis A; Zolezzi, Francesca F; Rotzschke, Olaf O

Publication Date: 2015-08-10

Variant appearance in text: rs1667394

PubMed Link: 26259071

Variant Present in the following documents:

• ncomms8971-s1.pdf

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Ancient human genomes suggest three ancestral populations for present-day Europeans.

Nature

Lazaridis, Iosif I; Patterson, Nick N; Mittnik, Alissa A; Renaud, Gabriel G; Mallick, Swapan S; Kirsanow, Karola K; Sudmant, Peter H PH; Schraiber, Joshua G JG; Castellano, Sergi S; Lipson, Mark M; Berger, Bonnie B; Economou, Christos C; Bollongino, Ruth R; Fu, Qiaomei Q; Bos, Kirsten I KI; Nordenfelt, Susanne S; Li, Heng H; de Filippo, Cesare C; Prüfer, Kay K; Sawyer, Susanna S; Posth, Cosimo C; Haak, Wolfgang W; Hallgren, Fredrik F; Fornander, Elin E; Rohland, Nadin N; Delsate, Dominique D; Francken, Michael M; Guinet, Jean-Michel JM; Wahl, Joachim J; Ayodo, George G; Babiker, Hamza A HA; Bailliet, Graciela G; Balanovska, Elena E; Balanovsky, Oleg O; Barrantes, Ramiro R; Bedoya, Gabriel G; Ben-Ami, Haim H; Bene, Judit J; Berrada, Fouad F; Bravi, Claudio M CM; Brisighelli, Francesca F; Busby, George B J GB; Cali, Francesco F; Churnosov, Mikhail M; Cole, David E C DE; Corach, Daniel D; Damba, Larissa L; van Driem, George G; Dryomov, Stanislav S; Dugoujon, Jean-Michel JM; Fedorova, Sardana A SA; Gallego Romero, Irene I; Gubina, Marina M; Hammer, Michael M; Henn, Brenna M BM; Hervig, Tor T; Hodoglugil, Ugur U; Jha, Aashish R AR; Karachanak-Yankova, Sena S; Khusainova, Rita R; Khusnutdinova, Elza E; Kittles, Rick R; Kivisild, Toomas T; Klitz, William W; Kučinskas, Vaidutis V; Kushniarevich, Alena A; Laredj, Leila L; Litvinov, Sergey S; Loukidis, Theologos T; Mahley, Robert W RW; Melegh, Béla B; Metspalu, Ene E; Molina, Julio J; Mountain, Joanna J; Näkkäläjärvi, Klemetti K; Nesheva, Desislava D; Nyambo, Thomas T; Osipova, Ludmila L; Parik, Jüri J; Platonov, Fedor F; Posukh, Olga O; Romano, Valentino V; Rothhammer, Francisco F; Rudan, Igor I; Ruizbakiev, Ruslan R; Sahakyan, Hovhannes H; Sajantila, Antti A; Salas, Antonio A; Starikovskaya, Elena B EB; Tarekegn, Ayele A; Toncheva, Draga D; Turdikulova, Shahlo S; Uktveryte, Ingrida I; Utevska, Olga O; Vasquez, René R; Villena, Mercedes M; Voevoda, Mikhail M; Winkler, Cheryl A CA; Yepiskoposyan, Levon L; Zalloua, Pierre P; Zemunik, Tatijana T; Cooper, Alan A; Capelli, Cristian C; Thomas, Mark G MG; Ruiz-Linares, Andres A; Tishkoff, Sarah A SA; Singh, Lalji L; Thangaraj, Kumarasamy K; Villems, Richard R; Comas, David D; Sukernik, Rem R; Metspalu, Mait M; Meyer, Matthias M; Eichler, Evan E EE; Burger, Joachim J; Slatkin, Montgomery M; Pääbo, Svante S; Kelso, Janet J; Reich, David D; Krause, Johannes J

Publication Date: 2014-09-18

Variant appearance in text: rs1667394

PubMed Link: 25230663

Variant Present in the following documents:

• NIHMS613260-supplement-supplement_1.pdf

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Genetics of eye colours in different rural populations on the Silk Road.

European Journal Of Human Genetics : Ejhg

Ulivi, Sheila S; Mezzavilla, Massimo M; Gasparini, Paolo P

Publication Date: 2013-11

Variant appearance in text: rs1667394

PubMed Link: 23486544

Variant Present in the following documents:

• Main text

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Genome-wide association studies of quantitatively measured skin, hair, and eye pigmentation in four European populations.

Plos One

Candille, Sophie I SI; Absher, Devin M DM; Beleza, Sandra S; Bauchet, Marc M; McEvoy, Brian B; Garrison, Nanibaa' A NA; Li, Jun Z JZ; Myers, Richard M RM; Barsh, Gregory S GS; Tang, Hua H; Shriver, Mark D MD

Publication Date: 2012

Variant appearance in text: rs1667394

PubMed Link: 23118974

Variant Present in the following documents:

• Main text
• pone.0048294.pdf

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A single-nucleotide polymorphism (SNP) multiplex system: the association of five SNPs with human eye and hair color in the Slovenian population and comparison using a Bayesian network and logistic regression model.

Croatian Medical Journal

Kastelic, Vanja V; Drobnic, Katja K

Publication Date: 2012-10

Variant appearance in text: rs1667394

PubMed Link: 23100201

Variant Present in the following documents:

• Main text

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A global view of the OCA2-HERC2 region and pigmentation.

Human Genetics

Donnelly, Michael P MP; Paschou, Peristera P; Grigorenko, Elena E; Gurwitz, David D; Barta, Csaba C; Lu, Ru-Band RB; Zhukova, Olga V OV; Kim, Jong-Jin JJ; Siniscalco, Marcello M; New, Maria M; Li, Hui H; Kajuna, Sylvester L B SL; Manolopoulos, Vangelis G VG; Speed, William C WC; Pakstis, Andrew J AJ; Kidd, Judith R JR; Kidd, Kenneth K KK

Publication Date: 2012-05

Variant appearance in text: rs1667394

PubMed Link: 22065085

Variant Present in the following documents:

• Main text
• 439_2011_Article_1110.pdf

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Adaptations to climate-mediated selective pressures in humans.

Plos Genetics

Hancock, Angela M AM; Witonsky, David B DB; Alkorta-Aranburu, Gorka G; Beall, Cynthia M CM; Gebremedhin, Amha A; Sukernik, Rem R; Utermann, Gerd G; Pritchard, Jonathan K JK; Coop, Graham G; Di Rienzo, Anna A

Publication Date: 2011-04

Variant appearance in text: rs1667394

PubMed Link: 21533023

Variant Present in the following documents:

• Main text

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Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review.

American Journal Of Epidemiology

Panagiotou, Orestis A OA; Evangelou, Evangelos E; Ioannidis, John P A JP

Publication Date: 2010-10-15

Variant appearance in text: rs1667394

PubMed Link: 20876667

Variant Present in the following documents:

• Main text

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Genetic differences between five European populations.

Human Heredity

Moskvina, Valentina V; Smith, Michael M; Ivanov, Dobril D; Blackwood, Douglas D; StClair, David D; Hultman, Christina C; Toncheva, Draga D; Gill, Michael M; Corvin, Aiden A; O'Dushlaine, Colm C; Morris, Derek W DW; Wray, Naomi R NR; Sullivan, Patrick P; Pato, Carlos C; Pato, Michele T MT; Sklar, Pamela P; Purcell, Shaun S; Holmans, Peter P; O'Donovan, Michael C MC; Owen, Michael J MJ; Kirov, George G; ,

Publication Date: 2010

Variant appearance in text: rs1667394

PubMed Link: 20616560

Variant Present in the following documents:

• Main text

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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: rs1667394

PubMed Link: 20585627

Variant Present in the following documents:

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

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Genome-wide association studies of pigmentation and skin cancer: a review and meta-analysis.

Pigment Cell & Melanoma Research

Gerstenblith, Meg R MR; Shi, Jianxin J; Landi, Maria Teresa MT

Publication Date: 2010-10

Variant appearance in text: rs1667394

PubMed Link: 20546537

Variant Present in the following documents:

• Main text

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Moderate- to low-risk variant alleles of cutaneous malignancies and nevi: lessons from genome-wide association studies.

Genome Medicine

Udayakumar, Durga D; Tsao, Hensin H

Publication Date: 2009-10-27

Variant appearance in text: rs1667394

PubMed Link: 19863770

Variant Present in the following documents:

• Main text

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A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.

Plos Genetics

Han, Jiali J; Kraft, Peter P; Nan, Hongmei H; Guo, Qun Q; Chen, Constance C; Qureshi, Abrar A; Hankinson, Susan E SE; Hu, Frank B FB; Duffy, David L DL; Zhao, Zhen Zhen ZZ; Martin, Nicholas G NG; Montgomery, Grant W GW; Hayward, Nicholas K NK; Thomas, Gilles G; Hoover, Robert N RN; Chanock, Stephen S; Hunter, David J DJ

Publication Date: 2008-05-16

Variant appearance in text: rs1667394

PubMed Link: 18483556

Variant Present in the following documents:

• Main text
• pgen.1000074.pdf

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A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.

American Journal Of Human Genetics

Sturm, Richard A RA; Duffy, David L DL; Zhao, Zhen Zhen ZZ; Leite, Fabio P N FP; Stark, Mitchell S MS; Hayward, Nicholas K NK; Martin, Nicholas G NG; Montgomery, Grant W GW

Publication Date: 2008-02

Variant appearance in text: rs1667394

PubMed Link: 18252222

Variant Present in the following documents:

• Main text

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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: rs1667394

PubMed Link: 18252221

Variant Present in the following documents:

• Main text

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