Publications:

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Genome-wide association study of varicose veins identifies a protective missense variant in GJD3 enriched in the Finnish population.

Communications Biology

Helkkula, Pyry P; Hassan, Shabbeer S; Saarentaus, Elmo E; Vartiainen, Emilia E; Ruotsalainen, Sanni S; Leinonen, Jaakko T JT; , ; Palotie, Aarno A; Karjalainen, Juha J; Kurki, Mitja M; Ripatti, Samuli S; Tukiainen, Taru T

Publication Date: 2023-01-18

Variant appearance in text: rs35318931

PubMed Link: 36653477

Variant Present in the following documents:

• Main text
• 42003_2022_Article_4285.pdf

View BVdb publication page

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Ancestry- and sex-specific effects underlying inguinal hernia susceptibility identified in a multiethnic genome-wide association study meta-analysis.

Human Molecular Genetics

Choquet, Hélène H; Li, Weiyu W; Yin, Jie J; Bradley, Rachael R; Hoffmann, Thomas J TJ; Nandakumar, Priyanka P; , ; Mostaedi, Rouzbeh R; Tian, Chao C; Ahituv, Nadav N; Jorgenson, Eric E

Publication Date: 2022-07-07

Variant appearance in text: rs35318931

PubMed Link: 35022708

Variant Present in the following documents:

• ddac003.pdf

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Genome-wide analysis of 944 133 individuals provides insights into the etiology of haemorrhoidal disease.

Gut

Zheng, Tenghao T; Ellinghaus, David D; Juzenas, Simonas S; Cossais, François F; Burmeister, Greta G; Mayr, Gabriele G; Jørgensen, Isabella Friis IF; Teder-Laving, Maris M; Skogholt, Anne Heidi AH; Chen, Sisi S; Strege, Peter R PR; Ito, Go G; Banasik, Karina K; Becker, Thomas T; Bokelmann, Frank F; Brunak, Søren S; Buch, Stephan S; Clausnitzer, Hartmut H; Datz, Christian C; , ; Degenhardt, Frauke F; Doniec, Marek M; Erikstrup, Christian C; Esko, Tõnu T; Forster, Michael M; Frey, Norbert N; Fritsche, Lars G LG; Gabrielsen, Maiken Elvestad ME; Gräßle, Tobias T; Gsur, Andrea A; Gross, Justus J; Hampe, Jochen J; Hendricks, Alexander A; Hinz, Sebastian S; Hveem, Kristian K; Jongen, Johannes J; Junker, Ralf R; Karlsen, Tom Hemming TH; Hemmrich-Stanisak, Georg G; Kruis, Wolfgang W; Kupcinskas, Juozas J; Laubert, Tilman T; Rosenstiel, Philip C PC; Röcken, Christoph C; Laudes, Matthias M; Leendertz, Fabian H FH; Lieb, Wolfgang W; Limperger, Verena V; Margetis, Nikolaos N; Mätz-Rensing, Kerstin K; Németh, Christopher Georg CG; Ness-Jensen, Eivind E; Nowak-Göttl, Ulrike U; Pandit, Anita A; Pedersen, Ole Birger OB; Peleikis, Hans Günter HG; Peuker, Kenneth K; Rodriguez, Cristina Leal CL; Rühlemann, Malte Christoph MC; Schniewind, Bodo B; Schulzky, Martin M; Skieceviciene, Jurgita J; Tepel, Jürgen J; Thomas, Laurent L; Uellendahl-Werth, Florian F; Ullum, Henrik H; Vogel, Ilka I; Volzke, Henry H; von Fersen, Lorenzo L; von Schönfels, Witigo W; Vanderwerff, Brett B; Wilking, Julia J; Wittig, Michael M; Zeissig, Sebastian S; Zobel, Myrko M; Zawistowski, Matthew M; Vacic, Vladimir V; Sazonova, Olga O; Noblin, Elizabeth S ES; , ; Farrugia, Gianrico G; Beyder, Arthur A; Wedel, Thilo T; Kahlke, Volker V; Schafmayer, Clemens C; D'Amato, Mauro M; Franke, Andre A

Publication Date: 2021-04-22

Variant appearance in text: SRPX: Ser413Phe; rs35318931

PubMed Link: 33888516

Variant Present in the following documents:

• Main text

View BVdb publication page

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The effect of X-linked dosage compensation on complex trait variation.

Nature Communications

Sidorenko, Julia J; Kassam, Irfahan I; Kemper, Kathryn E KE; Zeng, Jian J; Lloyd-Jones, Luke R LR; Montgomery, Grant W GW; Gibson, Greg G; Metspalu, Andres A; Esko, Tonu T; Yang, Jian J; McRae, Allan F AF; Visscher, Peter M PM

Publication Date: 2019-07-08

Variant appearance in text: rs35318931

PubMed Link: 31285442

Variant Present in the following documents:

• Main text
• 41467_2019_Article_10598.pdf

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: rs35318931

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: SRPX: S413F; rs35318931

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: rs35318931

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 11
• pone.0123569.s008.xls, sheet 5
• pone.0123569.s008.xls, sheet 10
• pone.0123569.s008.xls, sheet 6
• pone.0123569.s008.xls, sheet 2

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: SRPX: S413F; rs35318931

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: rs35318931

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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Genome-wide association analysis implicates elastic microfibrils in the development of nonsyndromic striae distensae.

The Journal Of Investigative Dermatology

Tung, Joyce Y JY; Kiefer, Amy K AK; Mullins, Meghan M; Francke, Uta U; Eriksson, Nicholas N

Publication Date: 2013-11

Variant appearance in text: rs35318931

PubMed Link: 23633020

Variant Present in the following documents:

• Main text
• jid2013196a.pdf
• jid2013196x1.pdf

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: SRPX: S413F

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File011.xls, sheet 1
• gkn1008_nar-01723-s-2008-File009.xls, sheet 1

View BVdb publication page

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