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Page 1
A community approach to the cancer-variant-interpretation bottleneck.
Krysiak K, Danos AM, Kiwala S, McMichael JF, Coffman AC, Barnell EK, Sheta L, Saliba J, Grisdale CJ, Kujan L, Pema S, Lever J, Spies NC, Chiorean A, Rieke DT, Clark KA, Jani P, Takahashi H, Horak P, Ritter DI, Zhou X, Ainscough BJ, Delong S, Lamping M, Marr AR, Li BV, Lin WH, Terraf P, Salama Y, Campbell KM, Farncombe KM, Ji J, Zhao X, Xu X, Kanagal-Shamanna R, Cotto KC, Skidmore ZL, Walker JR, Zhang J, Milosavljevic A, Patel RY, Giles RH, Kim RH, Schriml LM, Mardis ER, Jones SJM, Raca G, Rao S, Madhavan S, Wagner AH, Griffith OL, Griffith M. Krysiak K, et al. Among authors: jani p. Nat Cancer. 2022 May;3(5):522-525. doi: 10.1038/s43018-022-00379-w. Nat Cancer. 2022. PMID: 35624339 Free PMC article.
Comprehensive characterization of a Canadian cohort of von Hippel-Lindau disease patients.
Salama Y, Albanyan S, Szybowska M, Bullivant G, Gallinger B, Giles RH, Asa S, Badduke C, Chiorean A, Druker H, Ezzat S, Hannah-Shmouni F, Hernandez KG, Inglese C, Jani P, Kaur Y, Krema H, Krimus L, Laperriere N, Lichner Z, Mete O, Sit M, Zadeh G, Jewett MAS, Malkin D, Stockley T, Wasserman JD, Xu W, Schachter NF, Kim RH. Salama Y, et al. Among authors: jani p. Clin Genet. 2019 Nov;96(5):461-467. doi: 10.1111/cge.13613. Epub 2019 Aug 6. Clin Genet. 2019. PMID: 31368132
Large scale genotype- and phenotype-driven machine learning in Von Hippel-Lindau disease.
Chiorean A, Farncombe KM, Delong S, Andric V, Ansar S, Chan C, Clark K, Danos AM, Gao Y, Giles RH, Goldenberg A, Jani P, Krysiak K, Kujan L, Macpherson S, Maher ER, McCoy LG, Salama Y, Saliba J, Sheta L, Griffith M, Griffith OL, Erdman L, Ramani A, Kim RH. Chiorean A, et al. Among authors: jani p. Hum Mutat. 2022 Sep;43(9):1268-1285. doi: 10.1002/humu.24392. Epub 2022 May 10. Hum Mutat. 2022. PMID: 35475554 Free PMC article.
CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase.
Krysiak K, Danos AM, Saliba J, McMichael JF, Coffman AC, Kiwala S, Barnell EK, Sheta L, Grisdale CJ, Kujan L, Pema S, Lever J, Ridd S, Spies NC, Andric V, Chiorean A, Rieke DT, Clark KA, Reisle C, Venigalla AC, Evans M, Jani P, Takahashi H, Suda A, Horak P, Ritter DI, Zhou X, Ainscough BJ, Delong S, Kesserwan C, Lamping M, Shen H, Marr AR, Hoang MH, Singhal K, Khanfar M, Li BV, Lin WH, Terraf P, Corson LB, Salama Y, Campbell KM, Farncombe KM, Ji J, Zhao X, Xu X, Kanagal-Shamanna R, King I, Cotto KC, Skidmore ZL, Walker JR, Zhang J, Milosavljevic A, Patel RY, Giles RH, Kim RH, Schriml LM, Mardis ER, Jones SJM, Raca G, Rao S, Madhavan S, Wagner AH, Griffith M, Griffith OL. Krysiak K, et al. Among authors: jani p. Nucleic Acids Res. 2023 Jan 6;51(D1):D1230-D1241. doi: 10.1093/nar/gkac979. Nucleic Acids Res. 2023. PMID: 36373660 Free PMC article.
UK Foot and Ankle Thromboembolism (UK-FATE).
Mangwani J, Houchen-Wolloff L, Malhotra K, Booth S, Smith A, Teece L, Mason LW; UK FATE Collaborative; UK FATE Collaborative; Shaikh R, Alfred W, Okhifun I, Cinar E, Bua N, Vemulapalli K, Acharya A, Gadd R, Money-Taylor J, Kantharaju R, Bhosale A, Bahri S, Broadbent R, Drummond I, Jones N, Shah S, Ravindrarjah T, Yasen Z, Singh K, Al-Habs R, Jeyaseelan L, Habbiba A, Walker T, Dewhurst M, Glasgow N, Eze D, Carter G, Rajan P, Patil V, Amer O, Malik K, Pavanerathan P, Mallick A, Seferiadis I, Currall V, Sadasivan P, Kumar S, Sanjani SR, Ciaccio M, Ayyaswamy B, Prasad P, Anand M, Sunilraj D, Lane S, Prathap S, Kankate R, Aktselis I, Davda K, Vijapur A, Tayyem M, Chau J, Azhar MS, Sturdee S, Hussain H, Sonde S, Luqman MQ, Farooq R, Wells G, Shenolikar A, Simons M, Hodgson P, Thomas R, Stevens S, Elhassan Y, Adeniyi A, Aspinall W, Joseph V, Day M, Tong A, Joyner C, Alzaranky M, Elhassan O, Chhantyal K, Arora A, Abiddin Z, Kucharski R, Ahmad I, Zeb J, Ishaq U, Thomas J, Jain K, Deol R, Faroug R, Johal K, Mordecai S, Argyropouos M, Chawla A, Ibrahim M, Pereira M, Barr L, Julies E, Hill F, Kapoor S, Bailey J, Mukhopadhyay I, Rana S, Tarig H, Qualaghassi M, Seewoonarian S, Rose B, Crate G, … See abstract for full author list ➔ Mangwani J, et al. Among authors: jani p. Bone Joint J. 2024 Nov 1;106-B(11):1249-1256. doi: 10.1302/0301-620X.106B11.BJJ-2024-0128.R1. Bone Joint J. 2024. PMID: 39481430
356 results