Publications:

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: SEC23A: L211V

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Non-Alcoholic Fatty Liver Disease and Vitamin D in the UK Biobank: A Two-Sample Bidirectional Mendelian Randomisation Study.

Nutrients

Zhang, Zixuan Z; Burrows, Kimberley K; Fuller, Harriett H; Speliotes, Elizabeth K EK; Abeysekera, Kushala W M KWM; Thorne, James L JL; Lewis, Sarah J SJ; Zulyniak, Michael A MA; Moore, J Bernadette JB

Publication Date: 2023-03-16

Variant appearance in text: rs8018720

PubMed Link: 36986172

Variant Present in the following documents:

• Main text
• nutrients-15-01442.pdf

View BVdb publication page

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: SEC23A: L211V

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

View BVdb publication page

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Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications

Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S

Publication Date: 2022-11

Variant appearance in text: SEC23A: L211V; rs8018720

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

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Assessment of causal associations between uric acid and 25-hydroxyvitamin D levels.

Frontiers In Endocrinology

Han, Yingdong Y; Zhang, Yun Y; Zeng, Xuejun X

Publication Date: 2022

Variant appearance in text: rs8018720

PubMed Link: 36583002

Variant Present in the following documents:

• DataSheet_1.pdf

View BVdb publication page

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: SEC23A: 631C>G; rs8018720

PubMed Link: 36582804

Variant Present in the following documents:

• Table_2.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

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Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness.

Scientific Reports

Zhao, Jing J; Zhang, Siqi S; Jiang, Yuan Y; Liu, Yan Y; Wang, Jiantao J; Zhu, QingWen Q

Publication Date: 2022-12-23

Variant appearance in text: SEC23A: 631C>G; L211V; rs8018720

PubMed Link: 36564540

Variant Present in the following documents:

• 41598_2022_26850_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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The Role of Calcium, 25-Hydroxyvitamin D, and Parathyroid Hormone in Irritable Bowel Syndrome: A Bidirectional Two-Sample Mendelian Randomization Study.

Nutrients

Xie, Ning N; Xie, Jiale J; Wang, Ziwei Z; Shu, Qiuai Q; Shi, Haitao H; Wang, Jinhai J; Liu, Na N; Xu, Feng F; Wu, Jian J

Publication Date: 2022-12-01

Variant appearance in text: rs8018720

PubMed Link: 36501135

Variant Present in the following documents:

• Main text
• nutrients-14-05109.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: rs8018720

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.

Plos One

Lei, Peiliang P; Zhu, Qingwen Q; Dong, Wenrong W; Zhang, Siqi S; Sun, Yanyan Y; Du, Xitong X; Geng, Meng M; Jiang, Yuan Y

Publication Date: 2022

Variant appearance in text: SEC23A: 631C>G; L211V; rs8018720

PubMed Link: 36350814

Variant Present in the following documents:

• pone.0276233.s004.xlsx, sheet 1

View BVdb publication page

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Vitamin D genetic risk scores in multiple sclerosis.

Journal Of Neurology

Kuri, Ashvin A; Vickaryous, Nicola N; Awad, Amine A; Jacobs, Benjamin Meir BM; Dobson, Ruth R

Publication Date: 2022-11-05

Variant appearance in text: rs8018720

PubMed Link: 36334133

Variant Present in the following documents:

• Main text
• 415_2022_Article_11466.pdf

View BVdb publication page

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Genetic Determinants of 25-Hydroxyvitamin D Concentrations and Their Relevance to Public Health.

Nutrients

Hyppönen, Elina E; Vimaleswaran, Karani S KS; Zhou, Ang A

Publication Date: 2022-10-20

Variant appearance in text: rs8018720

PubMed Link: 36297091

Variant Present in the following documents:

• nutrients-14-04408.pdf

View BVdb publication page

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Serum 25-hydroxyvitamin D levels and the risk of non-alcoholic fatty liver: A two-sample Mendelian randomization study.

Saudi Journal Of Gastroenterology : Official Journal Of The Saudi Gastroenterology Association

Sheng, Qi Q; Shi, Huanchen H; Liu, Shousheng S; Zhuang, Likun L; Zhao, Zhenzhen Z; Xin, Yongning Y

Publication Date: 2022-10-10

Variant appearance in text: rs8018720

PubMed Link: 36254930

Variant Present in the following documents:

• Main text
• SJG-29-39.pdf

View BVdb publication page

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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: SEC23A: L211V

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Vitamin D metabolism pathway polymorphisms are associated with efficacy and safety in patients under anti-PD-1 inhibitor therapy.

Frontiers In Immunology

Luo, Jianquan J; Chen, Huiqing H; Ma, Fang F; Xiao, Chenlin C; Sun, Bao B; Liu, Yiping Y; Tang, Haoneng H; Yang, Yue Y; Liu, Wenhui W; Luo, Zhiying Z

Publication Date: 2022

Variant appearance in text: rs8018720

PubMed Link: 36172344

Variant Present in the following documents:

• Main text
• fimmu-13-937476.pdf

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: SEC23A: L211V; rs8018720

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family.

Bmc Medical Genomics

Li, Qiong Q; Wang, Shujuan S; Liang, Pengfei P; Li, Wei W; Wang, Jian J; Fan, Bei B; Yang, Yang Y; An, Xiaogang X; Chen, Jun J; Zha, Dingjun D

Publication Date: 2022-07-21

Variant appearance in text: SEC23A: 631C>G; L211V; rs8018720

PubMed Link: 35864542

Variant Present in the following documents:

• 12920_2022_1315_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Circulating Vitamin D Concentrations and Risk of Atrial Fibrillation: A Mendelian Randomization Study Using Non-deficient Range Summary Statistics.

Frontiers In Nutrition

Zhang, Nan N; Wang, Yueying Y; Chen, Ziliang Z; Liu, Daiqi D; Tse, Gary G; Korantzopoulos, Panagiotis P; Letsas, Konstantinos P KP; Goudis, Christos A CA; Lip, Gregory Y H GYH; Li, Guangping G; Zhang, Zhiwei Z; Liu, Tong T

Publication Date: 2022

Variant appearance in text: rs8018720

PubMed Link: 35782933

Variant Present in the following documents:

• Main text
• fnut-09-842392.pdf

View BVdb publication page

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SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications

Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X

Publication Date: 2022-02-08

Variant appearance in text: SEC23A: L211V

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Vitamin D and Type 1 Diabetes Risk: A Systematic Review and Meta-Analysis of Genetic Evidence.

Nutrients

Najjar, Liana L; Sutherland, Joshua J; Zhou, Ang A; Hyppönen, Elina E

Publication Date: 2021-11-26

Variant appearance in text: rs8018720

PubMed Link: 34959812

Variant Present in the following documents:

• Main text
• nutrients-13-04260.pdf

View BVdb publication page

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Vitamin D and Type 1 Diabetes Risk: A Systematic Review and Meta-Analysis of Genetic Evidence.

Nutrients

Najjar, Liana L; Sutherland, Joshua J; Zhou, Ang A; Hyppönen, Elina E

Publication Date: 2021-11-26

Variant appearance in text: rs8018720

PubMed Link: 34959812

Variant Present in the following documents:

• Main text
• nutrients-13-04260.pdf

View BVdb publication page

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Unveiling Genetic Variants Underlying Vitamin D Deficiency in Multiple Korean Cohorts by a Genome-Wide Association Study.

Endocrinology And Metabolism (Seoul, Korea)

Kim, Ye An YA; Yoon, Ji Won JW; Lee, Young Y; Choi, Hyuk Jin HJ; Yun, Jae Won JW; Bae, Eunsin E; Kwon, Seung-Hyun SH; Ahn, So Eun SE; Do, Ah-Ra AR; Jin, Heejin H; Won, Sungho S; Park, Do Joon DJ; Shin, Chan Soo CS; Seo, Je Hyun JH

Publication Date: 2021-12-02

Variant appearance in text: rs8018720

PubMed Link: 34852423

Variant Present in the following documents:

• Main text
• enm-2021-1241.pdf

View BVdb publication page

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Unveiling Genetic Variants Underlying Vitamin D Deficiency in Multiple Korean Cohorts by a Genome-Wide Association Study.

Endocrinology And Metabolism (Seoul, Korea)

Kim, Ye An YA; Yoon, Ji Won JW; Lee, Young Y; Choi, Hyuk Jin HJ; Yun, Jae Won JW; Bae, Eunsin E; Kwon, Seung-Hyun SH; Ahn, So Eun SE; Do, Ah-Ra AR; Jin, Heejin H; Won, Sungho S; Park, Do Joon DJ; Shin, Chan Soo CS; Seo, Je Hyun JH

Publication Date: 2021-12

Variant appearance in text: rs8018720

PubMed Link: 34852423

Variant Present in the following documents:

• Main text
• enm-2021-1241.pdf

View BVdb publication page

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Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.

Frontiers In Cell And Developmental Biology

Zhu, Yi-Ming YM; Li, Qi Q; Gao, Xue X; Li, Yan-Fei YF; Liu, You-Li YL; Dai, Pu P; Li, Xiang-Ping XP

Publication Date: 2021

Variant appearance in text: SEC23A: 631C>G; L211V; rs8018720

PubMed Link: 34692690

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Vitamin D-related polymorphisms and vitamin D levels as risk biomarkers of COVID-19 disease severity.

Scientific Reports

Freitas, Ana Teresa AT; Calhau, Conceição C; Antunes, Gonçalo G; Araújo, Beatriz B; Bandeira, Matilde M; Barreira, Sofia S; Bazenga, Filipa F; Braz, Sandra S; Caldeira, Daniel D; Santos, Susana Constantino Rosa SCR; Faria, Ana A; Faria, Daniel D; Fraga, Marta M; Nogueira-Garcia, Beatriz B; Gonçalves, Lúcia L; Kovalchuk, Pavlo P; Lacerda, Luísa L; Lopes, Hugo H; Luís, Daniel D; Medeiros, Fábio F; Melo, Ana M P AMP; Melo-Cristino, José J; Miranda, Ana A; Pereira, Clara C; Pinto, Ana Teresa AT; Pinto, João J; Proença, Helena H; Ramos, Angélica A; Rato, João P R JPR; Rocha, Filipe F; Rocha, Júlio César JC; Moreira-Rosário, André A; Vazão, Helena H; Volovetska, Yuliya Y; Guimarães, João-Tiago JT; Pinto, Fausto J FJ

Publication Date: 2021-10-21

Variant appearance in text: SEC23A: Leu211Val; rs8018720

PubMed Link: 34675344

Variant Present in the following documents:

• 41598_2021_99952_MOESM1_ESM.pdf

View BVdb publication page

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The impact of serum 25-hydroxyvitamin D, calcium, and parathyroid hormone levels on the risk of coronary artery disease in patients with diabetes: a Mendelian randomization study.

Nutrition Journal

Chen, Songzan S; Yang, Fangkun F; Xu, Tian T; Wang, Yao Y; Zhang, Kaijie K; Fu, Guosheng G; Zhang, Wenbin W

Publication Date: 2021-10-03

Variant appearance in text: rs8018720

PubMed Link: 34602077

Variant Present in the following documents:

• Main text
• 12937_2021_Article_735.pdf

View BVdb publication page

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Is vitamin D a modifiable risk factor for dental caries?

Wellcome Open Research

Dodhia, Serena A SA; West, Nicola X NX; Thomas, Steven J SJ; Timpson, Nicholas J NJ; Johansson, Ingegerd I; Lif Holgerson, Pernilla P; Dudding, Tom T; Haworth, Simon S

Publication Date: 2020

Variant appearance in text: rs8018720

PubMed Link: 34386609

Variant Present in the following documents:

• Main text

View BVdb publication page

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Contribution of Vitamin D-Binding Protein Polymorphism to Susceptibility and Outcome of COVID-19 Patients.

The Journal Of Nutrition

Speeckaert, Marijn M MM; Delanghe, Joris R JR

Publication Date: 2021-08-07

Variant appearance in text: rs8018720

PubMed Link: 34363485

Variant Present in the following documents:

• Main text
• nxab234.pdf

View BVdb publication page

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Genetically predicted serum vitamin D and COVID-19: a Mendelian randomisation study.

Bmj Nutrition, Prevention & Health

Patchen, Bonnie K BK; Clark, Andrew G AG; Gaddis, Nathan N; Hancock, Dana B DB; Cassano, Patricia A PA

Publication Date: 2021

Variant appearance in text: rs8018720

PubMed Link: 34308129

Variant Present in the following documents:

• Main text

View BVdb publication page

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No evidence that vitamin D is able to prevent or affect the severity of COVID-19 in individuals with European ancestry: a Mendelian randomisation study of open data.

Bmj Nutrition, Prevention & Health

Amin, Hasnat A HA; Drenos, Fotios F

Publication Date: 2021

Variant appearance in text: rs8018720

PubMed Link: 34308111

Variant Present in the following documents:

• Main text
• bmjnph-2020-000151.pdf

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: SEC23A: 631C>G; L211V; rs8018720

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Associations Between Prenatal, Perinatal, and Early Childhood Vitamin D Status and Risk of Dental Caries at 6 Years.

The Journal Of Nutrition

Navarro, Constanza L Andaur CLA; Grgic, Olja O; Trajanoska, Katerina K; van der Tas, Justin T JT; Rivadeneira, Fernando F; Wolvius, Eppo B EB; Voortman, Trudy T; Kragt, Lea L

Publication Date: 2021-07-01

Variant appearance in text: rs8018720

PubMed Link: 33982112

Variant Present in the following documents:

• Main text

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: SEC23A: L211V; rs8018720

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: SEC23A: 631C>G; L211V; rs8018720

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 2
• pone.0249324.s003.xlsx, sheet 3
• pone.0249324.s003.xlsx, sheet 1

View BVdb publication page

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A comprehensive re-assessment of the association between vitamin D and cancer susceptibility using Mendelian randomization.

Nature Communications

Ong, Jue-Sheng JS; Dixon-Suen, Suzanne C SC; Han, Xikun X; An, Jiyuan J; , ; , ; Liyanage, Upekha U; Dusingize, Jean-Cluade JC; Schumacher, Johannes J; Gockel, Ines I; Böhmer, Anne A; Jankowski, Janusz J; Palles, Claire C; O'Mara, Tracy T; Spurdle, Amanda A; Law, Matthew H MH; Iles, Mark M MM; Pharoah, Paul P; Berchuck, Andrew A; Zheng, Wei W; Thrift, Aaron P AP; Olsen, Catherine C; Neale, Rachel E RE; Gharahkhani, Puya P; Webb, Penelope M PM; MacGregor, Stuart S

Publication Date: 2021-01-11

Variant appearance in text: rs8018720

PubMed Link: 33431812

Variant Present in the following documents:

• Main text
• 41467_2020_20368_MOESM1_ESM.pdf
• 41467_2020_Article_20368.pdf

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: SEC23A: L211V; rs8018720

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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Relationship between Serum 25(OH)D and Depression: Causal Evidence from a Bi-Directional Mendelian Randomization Study.

Nutrients

Mulugeta, Anwar A; Lumsden, Amanda A; Hyppönen, Elina E

Publication Date: 2020-12-30

Variant appearance in text: rs8018720

PubMed Link: 33396887

Variant Present in the following documents:

• nutrients-13-00109-s001.pdf

View BVdb publication page

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A mendelian randomization study on causal effects of 25(OH)vitamin D levels on attention deficit/hyperactivity disorder.

European Journal Of Nutrition

Libuda, Lars L; Naaresh, Roaa R; Ludwig, Christine C; Laabs, Björn-Hergen BH; Antel, Jochen J; Föcker, Manuel M; Hebebrand, Johannes J; Hinney, Anke A; Peters, Triinu T

Publication Date: 2021-08

Variant appearance in text: rs8018720

PubMed Link: 33245439

Variant Present in the following documents:

• Main text
• 394_2020_Article_2439.pdf

View BVdb publication page

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Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.

Cell

Krug, Karsten K; Jaehnig, Eric J EJ; Satpathy, Shankha S; Blumenberg, Lili L; Karpova, Alla A; Anurag, Meenakshi M; Miles, George G; Mertins, Philipp P; Geffen, Yifat Y; Tang, Lauren C LC; Heiman, David I DI; Cao, Song S; Maruvka, Yosef E YE; Lei, Jonathan T JT; Huang, Chen C; Kothadia, Ramani B RB; Colaprico, Antonio A; Birger, Chet C; Wang, Jarey J; Dou, Yongchao Y; Wen, Bo B; Shi, Zhiao Z; Liao, Yuxing Y; Wiznerowicz, Maciej M; Wyczalkowski, Matthew A MA; Chen, Xi Steven XS; Kennedy, Jacob J JJ; Paulovich, Amanda G AG; Thiagarajan, Mathangi M; Kinsinger, Christopher R CR; Hiltke, Tara T; Boja, Emily S ES; Mesri, Mehdi M; Robles, Ana I AI; Rodriguez, Henry H; Westbrook, Thomas F TF; Ding, Li L; Getz, Gad G; Clauser, Karl R KR; Fenyö, David D; Ruggles, Kelly V KV; Zhang, Bing B; Mani, D R DR; Carr, Steven A SA; Ellis, Matthew J MJ; Gillette, Michael A MA; ,

Publication Date: 2020-11-25

Variant appearance in text: SEC23A: L211V

PubMed Link: 33212010

Variant Present in the following documents:

• NIHMS1687926-supplement-Supplemental_Table_3.xlsx, sheet 5

View BVdb publication page

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Association of circulating 25-Hydroxyvitamin D and its related genetic variations with hepatocellular carcinoma incidence and survival.

Annals Of Translational Medicine

Liu, Hui H; Jiang, Xia X; Qiao, Qiaohua Q; Chen, Liying L; Matsuda, Koichi K; Jiang, Guangyi G; Yu, Tunan T; Wang, Yifan Y; Lin, Hui H; Liang, Xiao X; Cai, Xiujun X

Publication Date: 2020-09

Variant appearance in text: rs8018720

PubMed Link: 33145299

Variant Present in the following documents:

• Main text
• atm-08-17-1080.pdf

View BVdb publication page

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The association between circulating 25-hydroxyvitamin D metabolites and type 2 diabetes in European populations: A meta-analysis and Mendelian randomisation analysis.

Plos Medicine

Zheng, Ju-Sheng JS; Luan, Jian'an J; Sofianopoulou, Eleni E; Sharp, Stephen J SJ; Day, Felix R FR; Imamura, Fumiaki F; Gundersen, Thomas E TE; Lotta, Luca A LA; Sluijs, Ivonne I; Stewart, Isobel D ID; Shah, Rupal L RL; van der Schouw, Yvonne T YT; Wheeler, Eleanor E; Ardanaz, Eva E; Boeing, Heiner H; Dorronsoro, Miren M; Dahm, Christina C CC; Dimou, Niki N; El-Fatouhi, Douae D; Franks, Paul W PW; Fagherazzi, Guy G; Grioni, Sara S; Huerta, José María JM; Heath, Alicia K AK; Hansen, Louise L; Jenab, Mazda M; Jakszyn, Paula P; Kaaks, Rudolf R; Kühn, Tilman T; Khaw, Kay-Tee KT; Laouali, Nasser N; Masala, Giovanna G; Nilsson, Peter M PM; Overvad, Kim K; Olsen, Anja A; Panico, Salvatore S; Quirós, J Ramón JR; Rolandsson, Olov O; Rodríguez-Barranco, Miguel M; Sacerdote, Carlotta C; Spijkerman, Annemieke M W AMW; Tong, Tammy Y N TYN; Tumino, Rosario R; Tsilidis, Konstantinos K KK; Danesh, John J; Riboli, Elio E; Butterworth, Adam S AS; Langenberg, Claudia C; Forouhi, Nita G NG; Wareham, Nicholas J NJ

Publication Date: 2020-10

Variant appearance in text: rs8018720

PubMed Link: 33064751

Variant Present in the following documents:

• Main text
• pmed.1003394.pdf

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: SEC23A: L211V; rs8018720

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs8018720

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

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Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications

Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B

Publication Date: 2020-04-09

Variant appearance in text: SEC23A: L211V

PubMed Link: 32273506

Variant Present in the following documents:

• 41467_2020_15456_MOESM4_ESM.xlsx, sheet 1
• 41467_2020_15456_MOESM5_ESM.xlsx, sheet 1
• 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1

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Genome-wide association study identifies 143 loci associated with 25 hydroxyvitamin D concentration.

Nature Communications

Revez, Joana A JA; Lin, Tian T; Qiao, Zhen Z; Xue, Angli A; Holtz, Yan Y; Zhu, Zhihong Z; Zeng, Jian J; Wang, Huanwei H; Sidorenko, Julia J; Kemper, Kathryn E KE; Vinkhuyzen, Anna A E AAE; Frater, Julanne J; Eyles, Darryl D; Burne, Thomas H J THJ; Mitchell, Brittany B; Martin, Nicholas G NG; Zhu, Gu G; Visscher, Peter M PM; Yang, Jian J; Wray, Naomi R NR; McGrath, John J JJ

Publication Date: 2020-04-02

Variant appearance in text: rs8018720

PubMed Link: 32242144

Variant Present in the following documents:

• Main text
• 41467_2020_Article_15421.pdf

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Genetic Predictors of Circulating 25-Hydroxyvitamin D and Prognosis after Colorectal Cancer.

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

Neumeyer, Sonja S; Butterbach, Katja K; Banbury, Barbara L BL; Berndt, Sonja I SI; Campbell, Peter T PT; Chlebowski, Rowan T RT; Chan, Andrew T AT; Giovannucci, Edward L EL; Joshi, Amit D AD; Ogino, Shuji S; Song, Mingyang M; McCullough, Marjorie L ML; Maalmi, Haifa H; Manson, JoAnn E JE; Sakoda, Lori C LC; Schoen, Robert E RE; Slattery, Martha L ML; White, Emily E; Win, Aung K AK; Figueiredo, Jane C JC; Hopper, John L JL; Macrae, Finlay A FA; Peters, Ulrike U; Brenner, Hermann H; Hoffmeister, Michael M; Newcomb, Polly A PA; Chang-Claude, Jenny J

Publication Date: 2020-06

Variant appearance in text: rs8018720

PubMed Link: 32188599

Variant Present in the following documents:

• Main text

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Genome-wide Association Study for Vitamin D Levels Reveals 69 Independent Loci.

American Journal Of Human Genetics

Manousaki, Despoina D; Mitchell, Ruth R; Dudding, Tom T; Haworth, Simon S; Harroud, Adil A; Forgetta, Vincenzo V; Shah, Rupal L RL; Luan, Jian'an J; Langenberg, Claudia C; Timpson, Nicholas J NJ; Richards, J Brent JB

Publication Date: 2020-03-05

Variant appearance in text: rs8018720

PubMed Link: 32059762

Variant Present in the following documents:

• Main text

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: SEC23A: 631C>G; L211V; rs8018720

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: SEC23A: L211V

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine

Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T

Publication Date: 2020-02

Variant appearance in text: SEC23A: Leu211Val

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 8
• Supplementary_Data2.xlsx, sheet 2
• Supplementary_Data2.xlsx, sheet 3
• Supplementary_Data2.xlsx, sheet 7
• Supplementary_Data2.xlsx, sheet 1
• Supplementary_Data2.xlsx, sheet 5

View BVdb publication page

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