Publications:

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Brain expression quantitative trait locus and network analyses reveal downstream effects and putative drivers for brain-related diseases.

Nature Genetics

de Klein, Niek N; Tsai, Ellen A EA; Vochteloo, Martijn M; Baird, Denis D; Huang, Yunfeng Y; Chen, Chia-Yen CY; van Dam, Sipko S; Oelen, Roy R; Deelen, Patrick P; Bakker, Olivier B OB; El Garwany, Omar O; Ouyang, Zhengyu Z; Marshall, Eric E EE; Zavodszky, Maria I MI; van Rheenen, Wouter W; Bakker, Mark K MK; Veldink, Jan J; Gaunt, Tom R TR; Runz, Heiko H; Franke, Lude L; Westra, Harm-Jan HJ

Publication Date: 2023-02-23

Variant appearance in text: rs2259735

PubMed Link: 36823318

Variant Present in the following documents:

• 41588_2023_1300_MOESM1_ESM.pdf

View BVdb publication page

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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: rs2259735

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs2259735

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: rs2259735

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Role of Genetic Variation in Cytochromes P450 in Breast Cancer Prognosis and Therapy Response.

International Journal Of Molecular Sciences

Hlaváč, Viktor V; Václavíková, Radka R; Brynychová, Veronika V; Ostašov, Pavel P; Koževnikovová, Renata R; Kopečková, Katerina K; Vrána, David D; Gatěk, Jiří J; Souček, Pavel P

Publication Date: 2021-03-10

Variant appearance in text: rs2259735

PubMed Link: 33802237

Variant Present in the following documents:

• Main text
• ijms-22-02826.pdf

View BVdb publication page

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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: rs2259735

PubMed Link: 32879140

Variant Present in the following documents:

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

View BVdb publication page

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Single Nucleotide Polymorphisms in 25-Hydroxyvitamin D3 1-Alpha-Hydroxylase (CYP27B1) Gene: The Risk of Malignant Tumors and Other Chronic Diseases.

Nutrients

Latacz, Maria M; Snarska, Jadwiga J; Kostyra, Elżbieta E; Fiedorowicz, Ewa E; Savelkoul, Huub Fj HF; Grzybowski, Roman R; Cieślińska, Anna A

Publication Date: 2020-03-18

Variant appearance in text: rs2259735

PubMed Link: 32197412

Variant Present in the following documents:

• Main text
• nutrients-12-00801.pdf

View BVdb publication page

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A New Risk Variant for Multiple Sclerosis at 11q23.3 Locus Is Associated with Expansion of CXCR5+ Circulating Regulatory T Cells.

Journal Of Clinical Medicine

Gil-Varea, Elia E; Fedetz, Maria M; Eixarch, Herena H; Spataro, Nino N; Villar, Luisa María LM; Urcelay, Elena E; Saiz, Albert A; Fernández, Óscar Ó; Leyva, Laura L; Ramió-Torrentà, Lluís L; Vandenbroeck, Koen K; Otaegui, David D; Castillo-Triviño, Tamara T; Izquierdo, Guillermo G; Malhotra, Sunny S; Bosch, Elena E; Navarro, Arcadi A; Alcina, Antonio A; Montalban, Xavier X; Matesanz, Fuencisla F; Comabella, Manuel M

Publication Date: 2020-02-26

Variant appearance in text: rs2259735

PubMed Link: 32110891

Variant Present in the following documents:

• Main text
• jcm-09-00625.pdf

View BVdb publication page

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Identification of Novel Biomarkers for Drug Hypersensitivity After Sequencing of the Promoter Area in 16 Genes of the Vitamin D Pathway and the High-Affinity IgE Receptor.

Frontiers In Genetics

Amo, Gemma G; Martí, Manuel M; García-Menaya, Jesús M JM; Cordobés, Concepción C; Cornejo-García, José A JA; Blanca-López, Natalia N; Canto, Gabriela G; Doña, Inmaculada I; Blanca, Miguel M; Torres, María José MJ; Agúndez, José A G JAG; García-Martín, Elena E

Publication Date: 2019

Variant appearance in text: rs2259735

PubMed Link: 31293618

Variant Present in the following documents:

• Main text
• fgene-10-00582.pdf

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: rs2259735

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs2259735

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer

Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F

Publication Date: 2017-05-12

Variant appearance in text: rs2259735

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Genetic variants in vitamin D signaling pathways and risk of gestational diabetes mellitus.

Oncotarget

Shi, Aiwu A; Wen, Juan J; Liu, Guangquan G; Liu, Heng H; Fu, Ziyi Z; Zhou, Jing J; Zhu, Yao Y; Liu, Yaoqiu Y; Guo, Xirong X; Xu, Jianguo J

Publication Date: 2016-10-18

Variant appearance in text: rs2259735

PubMed Link: 27636996

Variant Present in the following documents:

• Main text
• oncotarget-07-67788.pdf

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A phase I/II pharmacokinetic and pharmacogenomic study of calcitriol in combination with cisplatin and docetaxel in advanced non-small-cell lung cancer.

Cancer Chemotherapy And Pharmacology

Ramnath, N N; Daignault-Newton, S S; Dy, G K GK; Muindi, J R JR; Adjei, A A; Elingrod, V L VL; Kalemkerian, G P GP; Cease, K B KB; Stella, P J PJ; Brenner, D E DE; Troeschel, S S; Johnson, C S CS; Trump, D L DL

Publication Date: 2013-05

Variant appearance in text: rs2259735

PubMed Link: 23435876

Variant Present in the following documents:

• Main text

View BVdb publication page

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Vitamin D related genes, CYP24A1 and CYP27B1, and colon cancer risk.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Dong, Linda M LM; Ulrich, Cornelia M CM; Hsu, Li L; Duggan, David J DJ; Benitez, Debbie S DS; White, Emily E; Slattery, Martha L ML; Farin, Fred M FM; Makar, Karen W KW; Carlson, Christopher S CS; Caan, Bette J BJ; Potter, John D JD; Peters, Ulrike U

Publication Date: 2009-09

Variant appearance in text: rs2259735

PubMed Link: 19706847

Variant Present in the following documents:

• Main text

View BVdb publication page

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