Publications:

Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: COL4A5: 5048G>C; Arg1683Pro

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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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: 5048G>C; Arg1683Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Multi-region exome sequencing reveals the intratumoral heterogeneity of surgically resected small cell lung cancer.

Nature Communications

Zhou, Huaqiang H; Hu, Yi Y; Luo, Rongzhen R; Zhao, Yuanyuan Y; Pan, Hui H; Ji, Liyan L; Zhou, Ting T; Zhang, Lanjun L; Long, Hao H; Fu, Jianhua J; Wen, Zhesheng Z; Wang, Siyu S; Wang, Xin X; Lin, Peng P; Yang, Haoxian H; Wang, Junye J; Song, Mengmeng M; Yi, Xin X; Yang, Ling L; Xia, Xuefang X; Guan, Yanfang Y; Fang, Wenfeng W; Yang, Yunpeng Y; Hong, Shaodong S; Huang, Yan Y; Li, Pansong P; Zhang, Yaxiong Y; Zhou, Ningning N

Publication Date: 2021-09-14

Variant appearance in text: COL4A5: 5048G>C; R1683P; rs104886308

PubMed Link: 34521849

Variant Present in the following documents:

• 41467_2021_25787_MOESM4_ESM.xlsx, sheet 1

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Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.

Annals Of Internal Medicine

Lata, Sneh S; Marasa, Maddalena M; Li, Yifu Y; Fasel, David A DA; Groopman, Emily E; Jobanputra, Vaidehi V; Rasouly, Hila H; Mitrotti, Adele A; Westland, Rik R; Verbitsky, Miguel M; Nestor, Jordan J; Slater, Lindsey M LM; D'Agati, Vivette V; Zaniew, Marcin M; Materna-Kiryluk, Anna A; Lugani, Francesca F; Caridi, Gianluca G; Rampoldi, Luca L; Mattoo, Aditya A; Newton, Chad A CA; Rao, Maya K MK; Radhakrishnan, Jai J; Ahn, Wooin W; Canetta, Pietro A PA; Bomback, Andrew S AS; Appel, Gerald B GB; Antignac, Corinne C; Markowitz, Glen S GS; Garcia, Christine K CK; Kiryluk, Krzysztof K; Sanna-Cherchi, Simone S; Gharavi, Ali G AG

Publication Date: 2018-01-16

Variant appearance in text: rs104886308

PubMed Link: 29204651

Variant Present in the following documents:

• Main text

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