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168 results

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Page 1
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: giles rh. 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.
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: giles rh. Clin Genet. 2019 Nov;96(5):461-467. doi: 10.1111/cge.13613. Epub 2019 Aug 6. Clin Genet. 2019. PMID: 31368132
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: giles rh. Nat Cancer. 2022 May;3(5):522-525. doi: 10.1038/s43018-022-00379-w. Nat Cancer. 2022. PMID: 35624339 Free PMC article.
Genetic analysis of von Hippel-Lindau disease.
Nordstrom-O'Brien M, van der Luijt RB, van Rooijen E, van den Ouweland AM, Majoor-Krakauer DF, Lolkema MP, van Brussel A, Voest EE, Giles RH. Nordstrom-O'Brien M, et al. Among authors: giles rh. Hum Mutat. 2010 May;31(5):521-37. doi: 10.1002/humu.21219. Hum Mutat. 2010. PMID: 20151405
Novel Homozygous Mutation of the Internal Translation Initiation Start Site of VHL is Exclusively Associated with Erythrocytosis: Indications for Distinct Functional Roles of von Hippel-Lindau Tumor Suppressor Isoforms.
Bartels M, van der Zalm MM, van Oirschot BA, Lee FS, Giles RH, Kruip MJ, Gitz-Francois JJ, Van Solinge WW, Bierings M, van Wijk R. Bartels M, et al. Among authors: giles rh. Hum Mutat. 2015 Nov;36(11):1039-42. doi: 10.1002/humu.22846. Epub 2015 Aug 17. Hum Mutat. 2015. PMID: 26224408
Multidisciplinary integrated care pathway for von Hippel-Lindau disease.
Wolters WPG, Dreijerink KMA, Giles RH, van der Horst-Schrivers ANA, van Nesselrooij B, Zandee WT, Timmers HJLM, Seute T, de Herder WW, Verrijn Stuart AA, Kilic E, Brinkman WM, Zondervan PJ, Vandertop WP, Daniels AB, Wolbers T, Links TP, van Leeuwaarde RS. Wolters WPG, et al. Among authors: giles rh. Cancer. 2022 Aug 1;128(15):2871-2879. doi: 10.1002/cncr.34265. Epub 2022 May 17. Cancer. 2022. PMID: 35579632 Free PMC article.
168 results