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: rs1635168

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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The evolution of skin pigmentation-associated variation in West Eurasia.

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

Ju, Dan D; Mathieson, Iain I

Publication Date: 2021-01-05

Variant appearance in text: rs1635168

PubMed Link: 33443182

Variant Present in the following documents:

• Main text
• pnas.202009227.pdf

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Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight

Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL

Publication Date: 2020-09-03

Variant appearance in text: rs1635168

PubMed Link: 32879140

Variant Present in the following documents:

• jciinsight-5-136477-s105.xlsx, sheet 5

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Early-onset autoimmune vitiligo associated with an enhancer variant haplotype that upregulates class II HLA expression.

Nature Communications

Jin, Ying Y; Roberts, Genevieve H L GHL; Ferrara, Tracey M TM; Ben, Songtao S; van Geel, Nanja N; Wolkerstorfer, Albert A; Ezzedine, Khaled K; Siebert, Janet J; Neff, Charles P CP; Palmer, Brent E BE; Santorico, Stephanie A SA; Spritz, Richard A RA

Publication Date: 2019-01-23

Variant appearance in text: rs1635168

PubMed Link: 30674883

Variant Present in the following documents:

• 41467_2019_8337_MOESM1_ESM.pdf

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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: rs1635168

PubMed Link: 23118974

Variant Present in the following documents:

• Main text
• pone.0048294.pdf

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A genome-wide investigation of SNPs and CNVs in schizophrenia.

Plos Genetics

Need, Anna C AC; Ge, Dongliang D; Weale, Michael E ME; Maia, Jessica J; Feng, Sheng S; Heinzen, Erin L EL; Shianna, Kevin V KV; Yoon, Woohyun W; Kasperaviciūte, Dalia D; Gennarelli, Massimo M; Strittmatter, Warren J WJ; Bonvicini, Cristian C; Rossi, Giuseppe G; Jayathilake, Karu K; Cola, Philip A PA; McEvoy, Joseph P JP; Keefe, Richard S E RS; Fisher, Elizabeth M C EM; St Jean, Pamela L PL; Giegling, Ina I; Hartmann, Annette M AM; Möller, Hans-Jürgen HJ; Ruppert, Andreas A; Fraser, Gillian G; Crombie, Caroline C; Middleton, Lefkos T LT; St Clair, David D; Roses, Allen D AD; Muglia, Pierandrea P; Francks, Clyde C; Rujescu, Dan D; Meltzer, Herbert Y HY; Goldstein, David B DB

Publication Date: 2009-02

Variant appearance in text: rs1635168

PubMed Link: 19197363

Variant Present in the following documents:

• Main text
• pgen.1000373.pdf

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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: rs1635168

PubMed Link: 18483556

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: rs1635168

PubMed Link: 18252221

Variant Present in the following documents:

• Main text

View BVdb publication page

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