Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: COL4A5: 796C>T; Arg266Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Genomics Integration Into Nephrology Practice.

Kidney Medicine

Pinto E Vairo, Filippo F; Prochnow, Carri C; Kemppainen, Jennifer L JL; Lisi, Emily C EC; Steyermark, Joan M JM; Kruisselbrink, Teresa M TM; Pichurin, Pavel N PN; Dhamija, Rhadika R; Hager, Megan M MM; Albadri, Sam S; Cornell, Lynn D LD; Lazaridis, Konstantinos N KN; Klee, Eric W EW; Senum, Sarah R SR; El Ters, Mireille M; Amer, Hatem H; Baudhuin, Linnea M LM; Moyer, Ann M AM; Keddis, Mira T MT; Zand, Ladan L; Sas, David J DJ; Erickson, Stephen B SB; Fervenza, Fernando C FC; Lieske, John C JC; Harris, Peter C PC; Hogan, Marie C MC

Publication Date: 2021

Variant appearance in text: COL4A5: 796C>T; Arg266*

PubMed Link: 34746741

Variant Present in the following documents:

• Main text
• mmc5.xlsx, sheet 1
• main.pdf

View BVdb publication page

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X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases.

Frontiers In Medicine

Mastrangelo, Antonio A; Giani, Marisa M; Groppali, Elena E; Castorina, Pierangela P; Soldà, Giulia G; Robusto, Michela M; Fallerini, Chiara C; Bruttini, Mirella M; Renieri, Alessandra A; Montini, Giovanni G

Publication Date: 2020

Variant appearance in text: COL4A5: 796C>T; rs104886071

PubMed Link: 33330536

Variant Present in the following documents:

• Main text
• fmed-07-580376.pdf

View BVdb publication page

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Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population.

Genes

Wu, Chen-Chi CC; Tsai, Cheng-Yu CY; Lin, Yi-Hsin YH; Chen, Pey-Yu PY; Lin, Pei-Hsuan PH; Cheng, Yen-Fu YF; Wu, Che-Ming CM; Lin, Yin-Hung YH; Lee, Chee-Yee CY; Erdenechuluun, Jargalkhuu J; Liu, Tien-Chen TC; Chen, Pei-Lung PL; Hsu, Chuan-Jen CJ

Publication Date: 2019-10-01

Variant appearance in text: COL4A5: 796C>T

PubMed Link: 31581539

Variant Present in the following documents:

• Main text
• genes-10-00772.pdf

View BVdb publication page

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Genotype and Outcome After Kidney Transplantation in Alport Syndrome.

Kidney International Reports

Gillion, Valentine V; Dahan, Karin K; Cosyns, Jean-Pierre JP; Hilbert, Pascale P; Jadoul, Michel M; Goffin, Eric E; Godefroid, Nathalie N; De Meyer, Martine M; Mourad, Michel M; Pirson, Yves Y; Kanaan, Nada N

Publication Date: 2018-05

Variant appearance in text: COL4A5: 796C>T; Arg266*

PubMed Link: 29854973

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: COL4A5: 796C>T; R266*

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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