Irene A. G. Roberts


AuthID: R-00G-QN7

Publicações a aguardarem confirmação

1
TITLE: Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases  Full Text
AUTHORS: Pagnamenta, Alistair T.; Camps, Carme; Giacopuzzi, Edoardo; Taylor, John M.; Hashim, Mona; Calpena, Eduardo; Kaisaki, Pamela J.; Hashimoto, Akiko; Yu, Jing; Sanders, Edward; Schwessinger, Ron; Hughes, Jim R.; Lunter, Gerton; Dreau, Helene; Ferla, Matteo; Lange, Lukas; Kesim, Yesim; Ragoussis, Vassilis; Vavoulis, Dimitrios V.; Allroggen, Holger; Ansorge, Olaf; Babbs, Christian; Banka, Siddharth; Banos Pinero, Benito; Beeson, David; Ben Ami, Tal; Bennett, David L.; Bento, Celeste; Blair, Edward; Brasch Andersen, Charlotte; Bull, Katherine R.; Cario, Holger; Cilliers, Deirdre; Conti, Valerio; Davies, E. Graham; Dhalla, Fatima; Dacal, Beatriz Diez; Dong, Yin; Dunford, James E.; Guerrini, Renzo; Harris, Adrian L.; Hartley, Jane; Hollander, Georg; Javaid, Kassim; Kane, Maureen; Kelly, Deirdre; Kelly, Dominic; Knight, Samantha J. L.; Kreins, Alexandra Y.; Kvikstad, Erika M.; Langman, Craig B.; Lester, Tracy; Lines, Kate E.; Lord, Simon R.; Lu, Xin; Mansour, Sahar; Manzur, Adnan; Maroofian, Reza; Marsden, Brian; Mason, Joanne; McGowan, Simon J.; Mei, Davide; Mlcochova, Hana; Murakami, Yoshiko; Nemeth, Andrea H.; Okoli, Steven; Ormondroyd, Elizabeth; Ousager, Lilian Bomme; Palace, Jacqueline; Patel, Smita Y.; Pentony, Melissa M.; Pugh, Chris; Rad, Aboulfazl; Ramesh, Archana; Riva, Simone G.; Roberts, Irene; Roy, Noemi; Salminen, Outi; Schilling, Kyleen D.; Scott, Caroline; Sen, Arjune; Smith, Conrad; Stevenson, Mark; Thakker, Rajesh V.; Twigg, Stephen R. F.; Uhlig, Holm H.; van Wijk, Richard; Vona, Barbara; Wall, Steven; Wang, Jing; Watkins, Hugh; Zak, Jaroslav; Schuh, Anna H.; Kini, Usha; Wilkie, Andrew O. M.; Popitsch, Niko; Taylor, Jenny C.; ...More
PUBLISHED: 2023, SOURCE: GENOME MEDICINE, VOLUME: 15, ISSUE: 1
INDEXED IN: Scopus WOS
2
TITLE: Addressing the need for an external quality assessment for next generation sequencing (NGS) in the diagnosis of rare inherited anaemias.  Full Text
AUTHORS: Roy, N; Proven, M; Roberts, I; Tamary, H; Swinkels, D; Patricia, AM; Bianchi, P; Colombatti, R; Russo, R; Clark, B; Del Mar Manu, MD; Sanchez, M; Andres A D Del Orbe Barreto; Fermo, E; Viprakasit, V; Korchuenjit, J; Magalhaes Maia, TM; Smith, F; Da Costa, L; Marzollo, A; De la Hoz, AB; Arrizabalaga, B; Delasalle, B; Iolascon, A; ...More
PUBLISHED: 2019, SOURCE: 59th Annual Scientific Meeting of the British-Society-for-Hematology in BRITISH JOURNAL OF HAEMATOLOGY, VOLUME: 185
INDEXED IN: WOS
3
TITLE: Cell-type-specific transcriptional regulation of PIGM underpins the divergent hematologic phenotype in inherited GPl deficiency
AUTHORS: Joana R Costa; Valentina S Caputo; Kalliopi Makarona; Mark M Layton; Irene A G Roberts; Antonio M Almeida; Anastasios Karadimitris;
PUBLISHED: 2014, SOURCE: BLOOD, VOLUME: 124, ISSUE: 20
INDEXED IN: Scopus WOS CrossRef

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