Publications:

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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: rs2276360

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Association of Vitamin D Anabolism-Related Gene Polymorphisms and Susceptibility to Uterine Leiomyomas.

Frontiers In Genetics

Xie, Shangdan S; Jiang, Mengying M; Liu, Hejing H; Xue, Fang F; Chen, Xin X; Zhu, Xueqiong X

Publication Date: 2022

Variant appearance in text: rs2276360

PubMed Link: 35795205

Variant Present in the following documents:

• Main text
• fgene-13-844684.pdf

View BVdb publication page

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Mendelian randomization study updates the effect of 25-hydroxyvitamin D levels on the risk of multiple sclerosis.

Journal Of Translational Medicine

Wang, Renxi R

Publication Date: 2022-01-03

Variant appearance in text: rs2276360

PubMed Link: 34980161

Variant Present in the following documents:

• Main text
• 12967_2021_Article_3205.pdf

View BVdb publication page

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Mendelian randomization study updates the effect of 25-hydroxyvitamin D levels on the risk of multiple sclerosis.

Journal Of Translational Medicine

Wang, Renxi R

Publication Date: 2022-01-03

Variant appearance in text: rs2276360

PubMed Link: 34980161

Variant Present in the following documents:

• Main text
• 12967_2021_Article_3205.pdf

View BVdb publication page

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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: rs2276360

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs2276360

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

View BVdb publication page

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Vitamin D and cognitive function: A Mendelian randomisation study.

Scientific Reports

Maddock, Jane J; Zhou, Ang A; Cavadino, Alana A; Kuźma, Elżbieta E; Bao, Yanchun Y; Smart, Melissa C MC; Saum, Kai-Uwe KU; Schöttker, Ben B; Engmann, Jorgen J; Kjærgaard, Marie M; Karhunen, Ville V; Zhan, Yiqiang Y; Lehtimäki, Terho T; Rovio, Suvi P SP; Byberg, Liisa L; Lahti, Jari J; Marques-Vidal, Pedro P; Sen, Abhijit A; Perna, Laura L; Schirmer, Henrik H; Singh-Manoux, Archana A; Auvinen, Juha J; Hutri-Kähönen, Nina N; Kähönen, Mika M; Kilander, Lena L; Räikkönen, Katri K; Melhus, Håkan H; Ingelsson, Erik E; Guessous, Idris I; Petrovic, Katja E KE; Schmidt, Helena H; Schmidt, Reinhold R; Vollenweider, Peter P; Lind, Lars L; Eriksson, Johan G JG; Michaëlsson, Karl K; Raitakari, Olli T OT; Hägg, Sara S; Pedersen, Nancy L NL; Herzig, Karl-Heinz KH; Järvelin, Marjo-Riitta MR; Veijola, Juha J; Kivimaki, Mika M; Jorde, Rolf R; Brenner, Hermann H; Kumari, Meena M; Power, Chris C; Llewellyn, David J DJ; Hyppönen, Elina E

Publication Date: 2017-10-16

Variant appearance in text: rs2276360

PubMed Link: 29038561

Variant Present in the following documents:

• 41598_2017_13189_MOESM1_ESM.pdf

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: rs2276360

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs2276360

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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DHCR7 mutations linked to higher vitamin D status allowed early human migration to northern latitudes.

Bmc Evolutionary Biology

Kuan, Valerie V; Martineau, Adrian R AR; Griffiths, Chris J CJ; Hyppönen, Elina E; Walton, Robert R

Publication Date: 2013-07-09

Variant appearance in text: rs2276360

PubMed Link: 23837623

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: rs2276360

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page

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Genetic association analysis of vitamin D pathway with obesity traits.

International Journal Of Obesity (2005)

Vimaleswaran, K S KS; Cavadino, A A; Berry, D J DJ; , ; Whittaker, J C JC; Power, C C; Järvelin, M-R MR; Hyppönen, E E

Publication Date: 2013-10

Variant appearance in text: rs2276360

PubMed Link: 23381556

Variant Present in the following documents:

• Main text
• emss-50978.pdf

View BVdb publication page

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Genetic differences between five European populations.

Human Heredity

Moskvina, Valentina V; Smith, Michael M; Ivanov, Dobril D; Blackwood, Douglas D; StClair, David D; Hultman, Christina C; Toncheva, Draga D; Gill, Michael M; Corvin, Aiden A; O'Dushlaine, Colm C; Morris, Derek W DW; Wray, Naomi R NR; Sullivan, Patrick P; Pato, Carlos C; Pato, Michele T MT; Sklar, Pamela P; Purcell, Shaun S; Holmans, Peter P; O'Donovan, Michael C MC; Owen, Michael J MJ; Kirov, George G; ,

Publication Date: 2010

Variant appearance in text: rs2276360

PubMed Link: 20616560

Variant Present in the following documents:

• Main text

View BVdb publication page

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