Publications:

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The Etiology of Cholelithiasis in Children and Adolescents-A Literature Review.

International Journal Of Molecular Sciences

Zdanowicz, Katarzyna K; Daniluk, Jaroslaw J; Lebensztejn, Dariusz Marek DM; Daniluk, Urszula U

Publication Date: 2022-11-02

Variant appearance in text: rs217434

PubMed Link: 36362164

Variant Present in the following documents:

• Main text
• ijms-23-13376.pdf

View BVdb publication page

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MendelianRandomization v0.5.0: updates to an R package for performing Mendelian randomization analyses using summarized data.

Wellcome Open Research

Broadbent, Jim R JR; Foley, Christopher N CN; Grant, Andrew J AJ; Mason, Amy M AM; Staley, James R JR; Burgess, Stephen S

Publication Date: 2020

Variant appearance in text: rs217434

PubMed Link: 33381656

Variant Present in the following documents:

• Main text
• wellcomeopenres-5-18125.pdf

View BVdb publication page

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MendelianRandomization v0.5.0: updates to an R package for performing Mendelian randomization analyses using summarized data.

Wellcome Open Research

Broadbent, Jim R JR; Foley, Christopher N CN; Grant, Andrew J AJ; Mason, Amy M AM; Staley, James R JR; Burgess, Stephen S

Publication Date: 2020

Variant appearance in text: rs217434

PubMed Link: 33381656

Variant Present in the following documents:

• Main text
• wellcomeopenres-5-18125.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: rs217434

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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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: rs217434

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: NPC1L1: V1269V; rs217434

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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SNP rs688 within the low-density lipoprotein receptor (LDL-R) gene associates with HCV susceptibility.

Liver International : Official Journal Of The International Association For The Study Of The Liver

Steba, Gaby S GS; Koekkoek, Sylvie M SM; Tanck, Michael W T MWT; Vanhommerig, Joost W JW; van der Meer, Jan T M JTM; Kwa, David D; Brinkman, Kees K; Prins, Maria M; Berkhout, Ben B; Pollakis, Georgios G; Molenkamp, Richard R; Schinkel, Janke J; Paxton, William A WA; ,

Publication Date: 2019-03

Variant appearance in text: rs217434

PubMed Link: 30260075

Variant Present in the following documents:

• Main text
• LIV-39-463.pdf

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: NPC1L1: V1269V; rs217434

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4

View BVdb publication page

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Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review.

Lipids In Health And Disease

Paththinige, C S CS; Sirisena, N D ND; Dissanayake, Vhw V

Publication Date: 2017-06-02

Variant appearance in text: rs217434

PubMed Link: 28577571

Variant Present in the following documents:

• Main text
• 12944_2017_Article_488.pdf

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Host-related factors explaining interindividual variability of carotenoid bioavailability and tissue concentrations in humans.

Molecular Nutrition & Food Research

Bohn, Torsten T; Desmarchelier, Charles C; Dragsted, Lars O LO; Nielsen, Charlotte S CS; Stahl, Wilhelm W; Rühl, Ralph R; Keijer, Jaap J; Borel, Patrick P

Publication Date: 2017-06

Variant appearance in text: rs217434

PubMed Link: 28101967

Variant Present in the following documents:

• Main text
• MNFR-61-na.pdf

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The NPC1L1 Polymorphism 1679C>G Is Associated with Gallstone Disease in Chinese Patients.

Plos One

Wu, Jian J; Cui, Wei W; Cai, Qu Q; Fei, Jian J; Zhang, Sheng-Dao SD; Han, Tian-Quan TQ; Hu, Hai H; Jiang, Zhao-Yan ZY

Publication Date: 2016

Variant appearance in text: rs217434

PubMed Link: 26800364

Variant Present in the following documents:

• pone.0147562.pdf

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: NPC1L1: V1269V; rs217434

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research

Calandra, Sebastiano S; Tarugi, Patrizia P; Speedy, Helen E HE; Dean, Andrew F AF; Bertolini, Stefano S; Shoulders, Carol C CC

Publication Date: 2011-11

Variant appearance in text: rs217434

PubMed Link: 21862702

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation at the NPC1L1 gene locus, plasma lipoproteins, and heart disease risk in the elderly.

Journal Of Lipid Research

Polisecki, Eliana E; Peter, Inga I; Simon, Jason S JS; Hegele, Robert A RA; Robertson, Michele M; Ford, Ian I; Shepherd, James J; Packard, Christopher C; Jukema, J Wouter JW; de Craen, Anton J M AJ; Westendorp, Rudi G J RG; Buckley, Brendan M BM; Schaefer, Ernst J EJ; ,

Publication Date: 2010-05

Variant appearance in text: rs217434

PubMed Link: 19752398

Variant Present in the following documents:

• Main text

View BVdb publication page

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