Publications:

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: ABCA1: P312P; rs2274873

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

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: ABCA1: P312P

PubMed Link: 36928921

Variant Present in the following documents:

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

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Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations.

Hgg Advances

Zieger, Hanna K HK; Weinhold, Leonie L; Schmidt, Axel A; Holtgrewe, Manuel M; Juranek, Stefan A SA; Siewert, Anna A; Scheer, Annika B AB; Thieme, Frederic F; Mangold, Elisabeth E; Ishorst, Nina N; Brand, Fabian U FU; Welzenbach, Julia J; Beule, Dieter D; Paeschke, Katrin K; Krawitz, Peter M PM; Ludwig, Kerstin U KU

Publication Date: 2023-01-12

Variant appearance in text: ABCA1: P312P

PubMed Link: 36589413

Variant Present in the following documents:

• mmc2.xlsx, sheet 5

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: ABCA1: P312P

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)

Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI

Publication Date: 2020

Variant appearance in text: rs2274873

PubMed Link: 34541464

Variant Present in the following documents:

• cdr-3-959-SupplementaryMaterials.xlsx, sheet 1

View BVdb publication page

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Frequent mutation of hypoxia-related genes in persistent pulmonary hypertension of the newborn.

Respiratory Research

Wang, Mingbang M; Zhuang, Deyi D; Mei, Mei M; Ma, Haiyan H; Li, Zixiu Z; He, Fusheng F; Cheng, Guoqiang G; Lin, Guang G; Zhou, Wenhao W

Publication Date: 2020-02-13

Variant appearance in text: ABCA1: P312P; rs2274873

PubMed Link: 32054482

Variant Present in the following documents:

• 12931_2020_1314_MOESM1_ESM.xlsx, sheet 7

View BVdb publication page

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Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics

Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA

Publication Date: 2020-02-10

Variant appearance in text: ABCA1: Pro312=

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

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: ABCA1: Pro312=; rs2274873

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: ABCA1: P312P; rs2274873

PubMed Link: 31597922

Variant Present in the following documents:

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

View BVdb publication page

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ATP-Binding Cassette Transporters in the Clinical Implementation of Pharmacogenetics.

Journal Of Personalized Medicine

López-Fernández, Luis A LA

Publication Date: 2018-12-05

Variant appearance in text: ABCA1: Pro312Pro; rs2274873

PubMed Link: 30563187

Variant Present in the following documents:

• jpm-08-00040-s001.xlsx, sheet 1

View BVdb publication page

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Vitamin E Metabolic Effects and Genetic Variants: A Challenge for Precision Nutrition in Obesity and Associated Disturbances.

Nutrients

Galmés, Sebastià S; Serra, Francisca F; Palou, Andreu A

Publication Date: 2018-12-04

Variant appearance in text: rs2274873

PubMed Link: 30518135

Variant Present in the following documents:

• Main text
• nutrients-10-01919.pdf

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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: ABCA1: P312P; rs2274873

PubMed Link: 29221171

Variant Present in the following documents:

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

View BVdb publication page

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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: rs2274873

PubMed Link: 28101967

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Variations Involved in Vitamin E Status.

International Journal Of Molecular Sciences

Borel, Patrick P; Desmarchelier, Charles C

Publication Date: 2016-12-13

Variant appearance in text: rs2274873

PubMed Link: 27983595

Variant Present in the following documents:

• Main text
• ijms-17-02094.pdf

View BVdb publication page

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Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: ABCA1: P312P

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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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: ABCA1: P312P; rs2274873

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Genetic evidence for role of carotenoids in age-related macular degeneration in the Carotenoids in Age-Related Eye Disease Study (CAREDS).

Investigative Ophthalmology & Visual Science

Meyers, Kristin J KJ; Mares, Julie A JA; Igo, Robert P RP; Truitt, Barbara B; Liu, Zhe Z; Millen, Amy E AE; Klein, Michael M; Johnson, Elizabeth J EJ; Engelman, Corinne D CD; Karki, Chitra K CK; Blodi, Barbara B; Gehrs, Karen K; Tinker, Lesley L; Wallace, Robert R; Robinson, Jennifer J; LeBlanc, Erin S ES; Sarto, Gloria G; Bernstein, Paul S PS; SanGiovanni, John Paul JP; Iyengar, Sudha K SK

Publication Date: 2014-01-29

Variant appearance in text: rs2274873

PubMed Link: 24346170

Variant Present in the following documents:

• Main text

View BVdb publication page

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Evolutionary responses to a constructed niche: ancient Mesoamericans as a model of gene-culture coevolution.

Plos One

Hünemeier, Tábita T; Amorim, Carlos Eduardo Guerra CE; Azevedo, Soledad S; Contini, Veronica V; Acuña-Alonzo, Víctor V; Rothhammer, Francisco F; Dugoujon, Jean-Michel JM; Mazières, Stephane S; Barrantes, Ramiro R; Villarreal-Molina, María Teresa MT; Paixão-Côrtes, Vanessa Rodrigues VR; Salzano, Francisco M FM; Canizales-Quinteros, Samuel S; Ruiz-Linares, Andres A; Bortolini, Maria Cátira MC

Publication Date: 2012

Variant appearance in text: rs2274873

PubMed Link: 22768049

Variant Present in the following documents:

• Main text
• pone.0038862.pdf

View BVdb publication page

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