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: rs8039195

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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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: rs8039195

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: HERC2: 1084-70G>A; rs8039195

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

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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: rs8039195

PubMed Link: 27142779

Variant Present in the following documents:

• Main text

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: rs8039195

PubMed Link: 26547235

Variant Present in the following documents:

• Main text
• 12864_2015_Article_1973.pdf

View BVdb publication page

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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: rs8039195

PubMed Link: 26259071

Variant Present in the following documents:

• ncomms8971-s1.pdf

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Population structure, migration, and diversifying selection in the Netherlands.

European Journal Of Human Genetics : Ejhg

Abdellaoui, Abdel A; Hottenga, Jouke-Jan JJ; de Knijff, Peter P; Nivard, Michel G MG; Xiao, Xiangjun X; Scheet, Paul P; Brooks, Andrew A; Ehli, Erik A EA; Hu, Yueshan Y; Davies, Gareth E GE; Hudziak, James J JJ; Sullivan, Patrick F PF; van Beijsterveldt, Toos T; Willemsen, Gonneke G; de Geus, Eco J EJ; Penninx, Brenda W J H BW; Boomsma, Dorret I DI

Publication Date: 2013-11

Variant appearance in text: rs8039195

PubMed Link: 23531865

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs8039195

PubMed Link: 23118974

Variant Present in the following documents:

• Main text
• pone.0048294.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: rs8039195

PubMed Link: 21197618

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs8039195

PubMed Link: 20585627

Variant Present in the following documents:

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

View BVdb publication page

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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: rs8039195

PubMed Link: 20546537

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs8039195

PubMed Link: 18483556

Variant Present in the following documents:

• Main text
• pgen.1000074.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: rs8039195

PubMed Link: 18252221

Variant Present in the following documents:

• Main text

View BVdb publication page

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