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: rs234864

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Birthweight, BMI in adulthood and latent autoimmune diabetes in adults: a Mendelian randomisation study.

Diabetologia

Wei, Yuxia Y; Zhan, Yiqiang Y; Löfvenborg, Josefin E JE; Tuomi, Tiinamaija T; Carlsson, Sofia S

Publication Date: 2022-09

Variant appearance in text: rs234864

PubMed Link: 35606578

Variant Present in the following documents:

• Main text
• 125_2022_Article_5725.pdf
• 125_2022_5725_MOESM1_ESM.pdf

View BVdb publication page

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Generation of Isogenic hiPSCs with Targeted Edits at Multiple Intronic SNPs to Study the Effects of the Type 2 Diabetes Associated KCNQ1 Locus in American Indians.

Cells

Nair, Anup K AK; Traurig, Michael M; Sutherland, Jeff R JR; Muller, Yunhua L YL; Grellinger, Emma D ED; Saporito, Lucas L; Nelson, Robert G RG; Bogardus, Clifton C; Baier, Leslie J LJ

Publication Date: 2022-04-25

Variant appearance in text: rs234864

PubMed Link: 35563754

Variant Present in the following documents:

• cells-11-01446.pdf

View BVdb publication page

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Common genetic variants with fetal effects on birth weight are enriched for proximity to genes implicated in rare developmental disorders.

Human Molecular Genetics

Beaumont, Robin N RN; Mayne, Isabelle K IK; Freathy, Rachel M RM; Wright, Caroline F CF

Publication Date: 2021-05-31

Variant appearance in text: rs234864

PubMed Link: 33682876

Variant Present in the following documents:

• Main text
• ddab060.pdf

View BVdb publication page

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Genetics of 35 blood and urine biomarkers in the UK Biobank.

Nature Genetics

Sinnott-Armstrong, Nasa N; Tanigawa, Yosuke Y; Amar, David D; Mars, Nina N; Benner, Christian C; Aguirre, Matthew M; Venkataraman, Guhan Ram GR; Wainberg, Michael M; Ollila, Hanna M HM; Kiiskinen, Tuomo T; Havulinna, Aki S AS; Pirruccello, James P JP; Qian, Junyang J; Shcherbina, Anna A; , ; Rodriguez, Fatima F; Assimes, Themistocles L TL; Agarwala, Vineeta V; Tibshirani, Robert R; Hastie, Trevor T; Ripatti, Samuli S; Pritchard, Jonathan K JK; Daly, Mark J MJ; Rivas, Manuel A MA

Publication Date: 2021-02

Variant appearance in text: KCNQ1: 1795-11700G>A; rs234864

PubMed Link: 33462484

Variant Present in the following documents:

• NIHMS1651539-supplement-2.xlsx, sheet 21

View BVdb publication page

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Population-Wide Genetic Risk Prediction of Complex Diseases: A Pilot Feasibility Study in Macau Population for Precision Public Healthcare Planning.

Scientific Reports

Tsui, Nancy B Y NBY; Cheng, Gregory G; Chung, Teresa T; Lam, Christopher W K CWK; Yee, Anita A; Chung, Peter K C PKC; Kwan, Tsz-Ki TK; Ko, Elaine E; He, Daihai D; Wong, Wing-Tak WT; Lau, Johnson Y N JYN; Lau, Lok Ting LT; Fok, Manson M

Publication Date: 2018-01-30

Variant appearance in text: rs234864

PubMed Link: 29382849

Variant Present in the following documents:

• 41598_2017_19017_MOESM1_ESM.pdf

View BVdb publication page

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Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms.

Human Molecular Genetics

Horikoshi, Momoko M; Pasquali, Lorenzo L; Wiltshire, Steven S; Huyghe, Jeroen R JR; Mahajan, Anubha A; Asimit, Jennifer L JL; Ferreira, Teresa T; Locke, Adam E AE; Robertson, Neil R NR; Wang, Xu X; Sim, Xueling X; Fujita, Hayato H; Hara, Kazuo K; Young, Robin R; Zhang, Weihua W; Choi, Sungkyoung S; Chen, Han H; Kaur, Ismeet I; Takeuchi, Fumihiko F; Fontanillas, Pierre P; Thuillier, Dorothée D; Yengo, Loic L; Below, Jennifer E JE; Tam, Claudia H T CH; Wu, Ying Y; Abecasis, Gonçalo G; Altshuler, David D; Bell, Graeme I GI; Blangero, John J; Burtt, Noél P NP; Duggirala, Ravindranath R; Florez, Jose C JC; Hanis, Craig L CL; Seielstad, Mark M; Atzmon, Gil G; Chan, Juliana C N JC; Ma, Ronald C W RC; Froguel, Philippe P; Wilson, James G JG; Bharadwaj, Dwaipayan D; Dupuis, Josee J; Meigs, James B JB; Cho, Yoon Shin YS; Park, Taesung T; Kooner, Jaspal S JS; Chambers, John C JC; Saleheen, Danish D; Kadowaki, Takashi T; Tai, E Shyong ES; Mohlke, Karen L KL; Cox, Nancy J NJ; Ferrer, Jorge J; Zeggini, Eleftheria E; Kato, Norihiro N; Teo, Yik Ying YY; Boehnke, Michael M; McCarthy, Mark I MI; Morris, Andrew P AP; ,

Publication Date: 2016-05-15

Variant appearance in text: rs234864

PubMed Link: 26911676

Variant Present in the following documents:

• Main text
• ddw048.pdf

View BVdb publication page

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