Publications:

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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: rs1331924

PubMed Link: 32054482

Variant Present in the following documents:

• 12931_2020_1314_MOESM1_ESM.xlsx, sheet 7

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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: rs1331924

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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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: rs1331924

PubMed Link: 28101967

Variant Present in the following documents:

• Main text
• MNFR-61-na.pdf

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Germline polymorphisms in an enhancer of PSIP1 are associated with progression-free survival in epithelial ovarian cancer.

Oncotarget

French, Juliet D JD; Johnatty, Sharon E SE; Lu, Yi Y; Beesley, Jonathan J; Gao, Bo B; Kalimutho, Murugan M; Henderson, Michelle J MJ; Russell, Amanda J AJ; Kar, Siddhartha S; Chen, Xiaoqing X; Hillman, Kristine M KM; Kaufmann, Susanne S; Sivakumaran, Haran H; O'Reilly, Martin M; Wang, Chen C; Korbie, Darren J DJ; , ; , ; Lambrechts, Diether D; Despierre, Evelyn E; Van Nieuwenhuysen, Els E; Lambrechts, Sandrina S; Vergote, Ignace I; Karlan, Beth B; Lester, Jenny J; Orsulic, Sandra S; Walsh, Christine C; Fasching, Peter A PA; Beckmann, Matthias W MW; Ekici, Arif B AB; Hein, Alexander A; Matsuo, Keitaro K; Hosono, Satoyo S; Pisterer, Jacobus J; Hillemanns, Peter P; Nakanishi, Toru T; Yatabe, Yasushi Y; Goodman, Marc T MT; Lurie, Galina G; Matsuno, Rayna K RK; Thompson, Pamela J PJ; Pejovic, Tanja T; Bean, Yukie Y; Heitz, Florian F; Harter, Philipp P; du Bois, Andreas A; Schwaab, Ira I; Hogdall, Estrid E; Kjaer, Susanne K SK; Jensen, Allan A; Hogdall, Claus C; Lundvall, Lene L; Engelholm, Svend Aage SA; Brown, Bob B; Flanagan, James M JM; Metcalf, Michelle D MD; Siddiqui, Nadeem N; Sellers, Thomas T; Fridley, Brooke B; Cunningham, Julie J; Schildkraut, Joellen M JM; Iversen, Ed E; Weber, Rachel Palmieri RP; Brennan, Donal D; Berchuck, Andrew A; Pharoah, Paul P; Harnett, Paul P; Norris, Murray D MD; Haber, Michelle M; Goode, Ellen L EL; Lee, Jason S JS; Khanna, Kum Kum KK; Meyer, Kerstin B KB; Chenevix-Trench, Georgia G; deFazio, Anna A; Edwards, Stacey L SL; MacGregor, Stuart S; ,

Publication Date: 2016-02-09

Variant appearance in text: rs1331924

PubMed Link: 26840454

Variant Present in the following documents:

• oncotarget-07-6353-s001.pdf

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ABCA transporter gene expression and poor outcome in epithelial ovarian cancer.

Journal Of The National Cancer Institute

Hedditch, Ellen L EL; Gao, Bo B; Russell, Amanda J AJ; Lu, Yi Y; Emmanuel, Catherine C; Beesley, Jonathan J; Johnatty, Sharon E SE; Chen, Xiaoqing X; Harnett, Paul P; George, Joshy J; , ; Williams, Rebekka T RT; Flemming, Claudia C; Lambrechts, Diether D; Despierre, Evelyn E; Lambrechts, Sandrina S; Vergote, Ignace I; Karlan, Beth B; Lester, Jenny J; Orsulic, Sandra S; Walsh, Christine C; Fasching, Peter P; Beckmann, Matthias W MW; Ekici, Arif B AB; Hein, Alexander A; Matsuo, Keitaro K; Hosono, Satoyo S; Nakanishi, Toru T; Yatabe, Yasushi Y; Pejovic, Tanja T; Bean, Yukie Y; Heitz, Florian F; Harter, Philipp P; du Bois, Andreas A; Schwaab, Ira I; Hogdall, Estrid E; Kjaer, Susan K SK; Jensen, Allan A; Hogdall, Claus C; Lundvall, Lene L; Engelholm, Svend Aage SA; Brown, Bob B; Flanagan, James J; Metcalf, Michelle D MD; Siddiqui, Nadeem N; Sellers, Thomas T; Fridley, Brooke B; Cunningham, Julie J; Schildkraut, Joellen J; Iversen, Ed E; Weber, Rachel P RP; Berchuck, Andrew A; Goode, Ellen E; Bowtell, David D DD; Chenevix-Trench, Georgia G; deFazio, Anna A; Norris, Murray D MD; MacGregor, Stuart S; Haber, Michelle M; Henderson, Michelle J MJ

Publication Date: 2014-07

Variant appearance in text: rs1331924

PubMed Link: 24957074

Variant Present in the following documents:

• Main text

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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: rs1331924

PubMed Link: 24346170

Variant Present in the following documents:

• Main text

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