Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Artigo
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Genome sequence of Aedes aegypti, a major arbovirus vectorVishvanath Nene Jennifer R Wortman; Daniel Lawson; Brian Haas; Chinnappa Kodira; Zhijian (Jake) Tu; Brendan Loftus; Zhiyong Xi; Karyn Megy; Manfred Grabherr; Quinghu Ren; Evgeny M Zdobnov; Neil F Lobo; Kathryn S Campbell; Susan E Brown; Maria F Bonaldo; Jingsong Zhu; Steven P Sinkins; David G Hogenkamp; Paolo Amedeo; Peter Arensburger; Peter W Atkinson; Shelby Bidwell; Jim Biedler; Ewan Birney; Robert V Bruggner; Javier Costas; Monique R Coy; Jonathan Crabtree; Matt Crawford; Becky deBruyn; David DeCaprio; Karin Eiglmeier; Eric Eisenstadt; Hamza Fahmi Ali El Dorry; William M Gelbart; Suely Lopes Gomes; Martin Hammond; Linda I Hannick; James R Hogan; Michael H Holmes; David Jaffe; J. Spencer Johnston; Ryan C Kennedy; Hean Koo; Saul Kravitz; Evgenia V Kriventseva; David Kulp; Kurt LaButti; Eduardo Lee; Song Li; Diane D Lovin; Chunhong Mao; Evan Mauceli; Carlos Frederico Martins Menck; Jason R Miller; Philip Montgomery; Akio Mori; Ana L Nascimento; Horacio F Naveira; Chad Nusbaum; Sinéad O'Leary; Joshua Orvis; Mihaela Pertea; Hadi Quesneville; Kyanne R Reidenbach; Yu-Hui Rogers; Charles W Roth; Jennifer R Schneider; Michael Schatz; Martin Shumway; Mario Stanke; Eric O Stinson; Jose M. C Tubio; Janice P VanZee Purdue University, United States of America; Sergio Verjovski-Almeida; Doreen Werner; Owen White; Stefan Wyder; Qiandong Zeng; Qi Zhao; Yongmei Zhao; Catherine A Hill; Alexander S Raikhel; Marcelo B Soares; Dennis L Knudson; Norman H Lee; James Galagan; Steven L Salzberg; Ian T Paulsen; George Dimopoulos; Frank H Collins; Bruce W Birren; Claire M Fraser-Liggett; David W SeversonScience Washington v. 316, n. 5832, p. 1718-1723, 2007Washington 2007Localização: ICB - Inst. Ciências Biomédicas (PC-ICB BMM SEP 2007 )(Acessar) |
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2 |
Material Type: Artigo
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Genome sequence of Aedes aegypti, a major arbovirus vectorVishvanath Nene Jennifer R Wortman; Daniel Lawson; Brian Haas; Chinnappa Kodira; Zhijian (Jake) Tu; Brendan Loftus; Zhiyong Xi; Karyn Megy; Manfred Grabherr; Quinghu Ren; Evgeny M Zdobnov; Neil F Lobo; Kathryn S Campbell; Susan E Brown; Maria F Bonaldo; Jingsong Zhu; Steven P Sinkins; David G Hogenkamp; Paolo Amedeo; Peter Arensburger; Peter W Atkinson; Shelby Bidwell; Jim Biedler; Ewan Birney; Robert V Bruggner; Javier Costas; Monique R Coy; Jonathan Crabtree; Matt Crawford; Becky deBruyn; David DeCaprio; Karin Eiglmeier; Eric Eisenstadt; Hamza Fahmi Ali El Dorry; William M Gelbart; Suely Lopes Gomes; Martin Hammond; Linda I Hannick; James R Hogan; Michael H Holmes; David Jaffe; J. Spencer Johnston; Ryan C Kennedy; Hean Koo; Saul Kravitz; Evgenia V Kriventseva; David Kulp; Kurt LaButti; Eduardo Lee; Song Li; Diane D Lovin; Chunhong Mao; Evan Mauceli; Carlos Frederico Martins Menck; Jason R Miller; Philip Montgomery; Akio Mori; Ana L Nascimento; Horacio F Naveira; Chad Nusbaum; Sinéad O'Leary; Joshua Orvis; Mihaela Pertea; Hadi Quesneville; Kyanne R Reidenbach; Yu-Hui Rogers; Charles W Roth; Jennifer R Schneider; Michael Schatz; Martin Shumway; Mario Stanke; Eric O Stinson; Jose M. C Tubio; Janice P VanZee Purdue University, United States of America; Sergio Verjovski-Almeida; Doreen Werner; Owen White; Stefan Wyder; Qiandong Zeng; Qi Zhao; Yongmei Zhao; Catherine A Hill; Alexander S Raikhel; Marcelo B Soares; Dennis L Knudson; Norman H Lee; James Galagan; Steven L Salzberg; Ian T Paulsen; George Dimopoulos; Frank H Collins; Bruce W Birren; Claire M Fraser-Liggett; David W SeversonScience Washington v. 316, n. 5832, p. 1718-1723, 2007Washington 2007Localização: ICB - Inst. Ciências Biomédicas (PC-ICB BMM SEP 2007 )(Acessar) |
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3 |
Material Type: Artigo
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ArrayExpress update—simplifying data submissionsKolesnikov, Nikolay ; Hastings, Emma ; Keays, Maria ; Melnichuk, Olga ; Tang, Y. Amy ; Williams, Eleanor ; Dylag, Miroslaw ; Kurbatova, Natalja ; Brandizi, Marco ; Burdett, Tony ; Megy, Karyn ; Pilicheva, Ekaterina ; Rustici, Gabriella ; Tikhonov, Andrew ; Parkinson, Helen ; Petryszak, Robert ; Sarkans, Ugis ; Brazma, AlvisNucleic acids research, 2015-01, Vol.43 (D1), p.D1113-D1116 [Periódico revisado por pares]Texto completo disponível |
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4 |
Material Type: Artigo
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Implementation of individualised polygenic risk score analysis: a test case of a family of fourCorpas, Manuel ; Megy, Karyn ; Metastasio, Antonio ; Lehmann, EdmundBMC medical genomics, 2022-10, Vol.15 (Suppl 3), p.1-207, Article 207 [Periódico revisado por pares]London: BioMed Central LtdTexto completo disponível |
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5 |
Material Type: Artigo
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Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 GlomerulopathyLevine, Adam P ; Chan, Melanie M Y ; Sadeghi-Alavijeh, Omid ; Wong, Edwin K S ; Cook, H Terence ; Ashford, Sofie ; Carss, Keren ; Christian, Martin T ; Hall, Matthew ; Harris, Claire Louise ; McAlinden, Paul ; Marchbank, Kevin J ; Marks, Stephen D ; Maxwell, Heather ; Megy, Karyn ; Penkett, Christopher J ; Mozere, Monika ; Stirrups, Kathleen E ; Tuna, Salih ; Wessels, Julie ; Whitehorn, Deborah ; Johnson, Sally A ; Gale, Daniel PJournal of the American Society of Nephrology, 2020-02, Vol.31 (2), p.365-373 [Periódico revisado por pares]United States: American Society of NephrologyTexto completo disponível |
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6 |
Material Type: Artigo
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Whole Genome Interpretation for a Family of FiveCorpas, Manuel ; Megy, Karyn ; Mistry, Vanisha ; Metastasio, Antonio ; Lehmann, EdmundFrontiers in genetics, 2021-03, Vol.12, p.535123-535123 [Periódico revisado por pares]Switzerland: Frontiers Media S.ATexto completo disponível |
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7 |
Material Type: Artigo
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Germline mutations in the transcription factor IKZF5 cause thrombocytopeniaLentaigne, Claire ; Greene, Daniel ; Sivapalaratnam, Suthesh ; Favier, Remi ; Seyres, Denis ; Thys, Chantal ; Grassi, Luigi ; Mangles, Sarah ; Sibson, Keith ; Stubbs, Matthew ; Burden, Frances ; Bordet, Jean-Claude ; Armari-Alla, Corinne ; Erber, Wendy ; Farrow, Samantha ; Gleadall, Nicholas ; Gomez, Keith ; Megy, Karyn ; Papadia, Sofia ; Penkett, Christopher J. ; Sims, Matthew C. ; Stefanucci, Luca ; Stephens, Jonathan C. ; Read, Randy J. ; Stirrups, Kathleen E. ; Ouwehand, Willem H. ; Laffan, Michael A. ; Frontini, Mattia ; Freson, Kathleen ; Turro, ErnestBlood, 2019-12, Vol.134 (23), p.2070-2081 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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8 |
Material Type: Artigo
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De novo variant in tyrosine kinase SRC causes thrombocytopenia: case report of a second familyDe Kock, Lore ; Thys, Chantal ; Downes, Kate ; Duarte, Daniel ; Megy, Karyn ; Van Geet, Chris ; Freson, KathleenPlatelets (Edinburgh), 2019-10, Vol.30 (7), p.931-934 [Periódico revisado por pares]England: Taylor & Francis GroupTexto completo disponível |
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9 |
Material Type: Artigo
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Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhoodFrench, Courtney E. ; Dolling, Helen ; Mégy, Karyn ; Sanchis-Juan, Alba ; Kumar, Ajay ; Delon, Isabelle ; Wakeling, Matthew ; Mallin, Lucy ; Agrawal, Shruti ; Austin, Topun ; Walston, Florence ; Park, Soo-Mi ; Parker, Alasdair ; Piyasena, Chinthika ; Bradbury, Kimberley ; Ellard, Sian ; Rowitch, David H. ; Raymond, F. LucyHGG advances, 2022-07, Vol.3 (3), p.100113-100113, Article 100113 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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10 |
Material Type: Artigo
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Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencingSanchis-Juan, Alba ; Stephens, Jonathan ; French, Courtney E ; Gleadall, Nicholas ; Mégy, Karyn ; Penkett, Christopher ; Shamardina, Olga ; Stirrups, Kathleen ; Delon, Isabelle ; Dewhurst, Eleanor ; Dolling, Helen ; Erwood, Marie ; Grozeva, Detelina ; Stefanucci, Luca ; Arno, Gavin ; Webster, Andrew R ; Cole, Trevor ; Austin, Topun ; Branco, Ricardo Garcia ; Ouwehand, Willem H ; Raymond, F Lucy ; Carss, Keren JGenome medicine, 2018-12, Vol.10 (1), p.95-95, Article 95 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |