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Page 1
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy.
Lesurf R, Said A, Akinrinade O, Breckpot J, Delfosse K, Liu T, Yao R, Persad G, McKenna F, Noche RR, Oliveros W, Mattioli K, Shah S, Miron A, Yang Q, Meng G, Yue MCS, Sung WWL, Thiruvahindrapuram B, Lougheed J, Oechslin E, Mondal T, Bergin L, Smythe J, Jayappa S, Rao VJ, Shenthar J, Dhandapany PS, Semsarian C, Weintraub RG, Bagnall RD, Ingles J; Genomics England Research Consortium; Melé M, Maass PG, Ellis J, Scherer SW, Mital S. Lesurf R, et al. NPJ Genom Med. 2022 Mar 14;7(1):18. doi: 10.1038/s41525-022-00288-y. NPJ Genom Med. 2022. PMID: 35288587 Free PMC article.
Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
Škorić-Milosavljević D, Lahrouchi N, Bosada FM, Dombrowsky G, Williams SG, Lesurf R, Tjong FVY, Walsh R, El Bouchikhi I, Breckpot J, Audain E, Ilgun A, Beekman L, Ratbi I, Strong A, Muenke M, Heide S, Muir AM, Hababa M, Cross L, Zhou D, Pastinen T; German Competence Network for Congenital Heart Defects; Zackai E, Atmani S, Ouldim K, Adadi N, Steindl K, Rauch A, Brook D, Wilsdon A, Kuipers I, Blom NA, Mulder BJ, Mefford HC, Keren B, Joset P, Kruszka P, Thiffault I, Sheppard SE, Roberts A, Lodder EM, Keavney BD, Clur SB, Mital S, Hitz MP, Christoffels VM, Postma AV, Bezzina CR. Škorić-Milosavljević D, et al. Among authors: lesurf r. Genet Med. 2021 Oct;23(10):1952-1960. doi: 10.1038/s41436-021-01212-y. Epub 2021 Jun 10. Genet Med. 2021. PMID: 34113005 Free PMC article.
Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
Škorić-Milosavljević D, Lahrouchi N, Bosada FM, Dombrowsky G, Williams SG, Lesurf R, Tjong FVY, Walsh R, El Bouchikhi I, Breckpot J, Audain E, Ilgun A, Beekman L, Ratbi I, Strong A, Muenke M, Heide S, Muir AM, Hababa M, Cross L, Zhou D, Pastinen T; German Competence Network for Congenital Heart Defects; Zackai E, Atmani S, Ouldim K, Adadi N, Steindl K, Rauch A, Brook D, Wilsdon A, Kuipers I, Blom NA, Mulder BJ, Mefford HC, Keren B, Joset P, Kruszka P, Thiffault I, Sheppard SE, Roberts A, Lodder EM, Keavney BD, Clur SB, Mital S, Hitz MP, Christoffels VM, Postma AV, Bezzina CR. Škorić-Milosavljević D, et al. Among authors: lesurf r. Genet Med. 2021 Oct;23(10):2013. doi: 10.1038/s41436-021-01279-7. Genet Med. 2021. PMID: 34522030 Free PMC article. No abstract available.
CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer.
Griffith M, Spies NC, Krysiak K, McMichael JF, Coffman AC, Danos AM, Ainscough BJ, Ramirez CA, Rieke DT, Kujan L, Barnell EK, Wagner AH, Skidmore ZL, Wollam A, Liu CJ, Jones MR, Bilski RL, Lesurf R, Feng YY, Shah NM, Bonakdar M, Trani L, Matlock M, Ramu A, Campbell KM, Spies GC, Graubert AP, Gangavarapu K, Eldred JM, Larson DE, Walker JR, Good BM, Wu C, Su AI, Dienstmann R, Margolin AA, Tamborero D, Lopez-Bigas N, Jones SJ, Bose R, Spencer DH, Wartman LD, Wilson RK, Mardis ER, Griffith OL. Griffith M, et al. Among authors: lesurf r. Nat Genet. 2017 Jan 31;49(2):170-174. doi: 10.1038/ng.3774. Nat Genet. 2017. PMID: 28138153 Free PMC article.
Molecular landmarks of tumor hypoxia across cancer types.
Bhandari V, Hoey C, Liu LY, Lalonde E, Ray J, Livingstone J, Lesurf R, Shiah YJ, Vujcic T, Huang X, Espiritu SMG, Heisler LE, Yousif F, Huang V, Yamaguchi TN, Yao CQ, Sabelnykova VY, Fraser M, Chua MLK, van der Kwast T, Liu SK, Boutros PC, Bristow RG. Bhandari V, et al. Among authors: lesurf r. Nat Genet. 2019 Feb;51(2):308-318. doi: 10.1038/s41588-018-0318-2. Epub 2019 Jan 14. Nat Genet. 2019. PMID: 30643250
ORegAnno 3.0: a community-driven resource for curated regulatory annotation.
Lesurf R, Cotto KC, Wang G, Griffith M, Kasaian K, Jones SJ, Montgomery SB, Griffith OL; Open Regulatory Annotation Consortium. Lesurf R, et al. Nucleic Acids Res. 2016 Jan 4;44(D1):D126-32. doi: 10.1093/nar/gkv1203. Epub 2015 Nov 17. Nucleic Acids Res. 2016. PMID: 26578589 Free PMC article.
Comprehensive genomic analysis reveals FLT3 activation and a therapeutic strategy for a patient with relapsed adult B-lymphoblastic leukemia.
Griffith M, Griffith OL, Krysiak K, Skidmore ZL, Christopher MJ, Klco JM, Ramu A, Lamprecht TL, Wagner AH, Campbell KM, Lesurf R, Hundal J, Zhang J, Spies NC, Ainscough BJ, Larson DE, Heath SE, Fronick C, O'Laughlin S, Fulton RS, Magrini V, McGrath S, Smith SM, Miller CA, Maher CA, Payton JE, Walker JR, Eldred JM, Walter MJ, Link DC, Graubert TA, Westervelt P, Kulkarni S, DiPersio JF, Mardis ER, Wilson RK, Ley TJ. Griffith M, et al. Among authors: lesurf r. Exp Hematol. 2016 Jul;44(7):603-13. doi: 10.1016/j.exphem.2016.04.011. Epub 2016 May 13. Exp Hematol. 2016. PMID: 27181063 Free PMC article.
GenVisR: Genomic Visualizations in R.
Skidmore ZL, Wagner AH, Lesurf R, Campbell KM, Kunisaki J, Griffith OL, Griffith M. Skidmore ZL, et al. Among authors: lesurf r. Bioinformatics. 2016 Oct 1;32(19):3012-4. doi: 10.1093/bioinformatics/btw325. Epub 2016 Jun 10. Bioinformatics. 2016. PMID: 27288499 Free PMC article.
Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS.
Whyte MP, Griffith M, Trani L, Mumm S, Gottesman GS, McAlister WH, Krysiak K, Lesurf R, Skidmore ZL, Campbell KM, Rosman IS, Bayliss S, Bijanki VN, Nenninger A, Van Tine BA, Griffith OL, Mardis ER. Whyte MP, et al. Among authors: lesurf r. Bone. 2017 Aug;101:145-155. doi: 10.1016/j.bone.2017.04.010. Epub 2017 Apr 21. Bone. 2017. PMID: 28434888 Free PMC article.
Genomic characterization of HER2-positive breast cancer and response to neoadjuvant trastuzumab and chemotherapy-results from the ACOSOG Z1041 (Alliance) trial.
Lesurf R, Griffith OL, Griffith M, Hundal J, Trani L, Watson MA, Aft R, Ellis MJ, Ota D, Suman VJ, Meric-Bernstam F, Leitch AM, Boughey JC, Unzeitig G, Buzdar AU, Hunt KK, Mardis ER. Lesurf R, et al. Ann Oncol. 2017 May 1;28(5):1070-1077. doi: 10.1093/annonc/mdx048. Ann Oncol. 2017. PMID: 28453704 Free PMC article.
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