Bibliotecas PUC-SP - Busca Integrada

Vasculitis in a patient with mevalonate kinase deficiency (MKD): a case report

Por Ebun Omoyinmi, Dorota Rowczenio, Neil Sebire, Paul A. Brogan, Despina Eleftheriou
Publicado no Pediatric Rheumatology Online Journal (2021-11-01)

Successful use of ofatumumab in two cases of early-onset juvenile SLE with thrombocytopenia caused by a mutation in protein kinase C δ

Por Linda Lei, Sabina Muhammad, Muthana Al-Obaidi, Neil Sebire, Iek Leng Cheng, Despina Eleftheriou, Paul Brogan
Publicado no Pediatric Rheumatology Online Journal (2018-09-01)

Development of a data utility framework to support effective health data curation

Por Neil Sebire, Monica Jones, Caroline Cake, Ben Gordon, Jake Barrett, Clara Fennessy, Adam Milward, Courtney Irwin
Publicado no BMJ Health & Care Informatics (2021-03-01)

Testicular ischemia in deficiency of adenosine deaminase 2 (DADA2)

Por Katherine Clarke, Cathy Campbell, Ebun Omoyinmi, Ying Hong, Muthana Al Obaidi, Neil Sebire, Paul A. Brogan
Publicado no Pediatric Rheumatology Online Journal (2019-07-01)

Incorporation of vasa previa screening into a routine anomaly scan: A single center cohort study

Por Millicent Nwandison, Elizabeth Daly‐Jones, Alexandra Drought, Lisa Story, Philippe De‐Rosnay, Neil Sebire, David Nyberg, Yinka Oyelese
Publicado no Acta Obstetricia et Gynecologica Scandinavica (2024-07-01)

Discovering patient groups in sequential electronic healthcare data using unsupervised representation learning

Por Jingteng Li, Kimberley R. Zakka, John Booth, Louise Rigny, Samiran Ray, Mario Cortina-Borja, Payam Barnaghi, Neil Sebire
Publicado no BMC Medical Informatics and Decision Making (2025-01-01)

Dynamic Changes in Microvascular Density Can Predict Viable and Non-Viable Areas in High-Risk Neuroblastoma

Por Laura Privitera, Layla Musleh, Irene Paraboschi, Olumide Ogunlade, Olumide Ogunbiyi, J. Ciaran Hutchinson, Neil Sebire, Paul Beard, Stefano Giuliani
Publicado no Cancers (2023-02-01)

Augmenting laboratory COVID serology data granularity for SARS-CoV-2 reporting.

Por Esmond Urwin, Andy Harris, Jenny Johnstone, Erum Masood, Antony Chuter, Michael Ferguson, Joanne Martin, Neil Sebire, Philip Quinlan, Emily Jefferson
Publicado no International Journal of Population Data Science (2022-08-01)

Impact of Electronic Health Record Use on Cognitive Load and Burnout Among Clinicians: Narrative Review

Por Elham Asgari, Japsimar Kaur, Gani Nuredini, Jasmine Balloch, Andrew M Taylor, Neil Sebire, Robert Robinson, Catherine Peters, Shankar Sridharan, Dominic Pimenta
Publicado no JMIR Medical Informatics (2024-04-01)

Evaluation of freely available data profiling tools for health data research application: a functional evaluation review

Por Neil Sebire, Trevor Heritage, Ben Gordon, Susheel Varma, Jake Barrett, Clara Fennessy, Victor Banda, Enez McCondochie, Oenone Duroe, Richard Jeffery, Vishnu Rajamani, Kieran Earlam
Publicado no BMJ Open (2022-05-01)

Development of a national pathology training system using digital pathology and SNOMED-CT

Por Clare McGenity, Alyn Cratchley, Jocelyn Aldridge, Craig Sayers, W. Scott Campbell, Rajesh C. Dash, Adrienne M. Flanagan, Neil Sebire, Alexander Wright, Waseem Akhtar, Darren Treanor
Publicado no Journal of Pathology Informatics (2025-08-01)

A Proof of Principle 2D Spatial Proteome Mapping Analysis Reveals Distinct Regional Differences in the Cardiac Proteome

Por Wendy E. Heywood, Jon Searle, Richard Collis, Ivan Doykov, Michael Ashworth, Neil Sebire, Andrew Bamber, Mathias Gautel, Simon Eaton, Caroline J. Coats, Perry M. Elliott, Kevin Mills
Publicado no Life (2024-08-01)

A pathogenic mosaic TP53 mutation in two germ layers detected by next generation sequencing.

Por Sam Behjati, Mariana Maschietto, Richard D Williams, Lucy Side, Mike Hubank, Rebecca West, Katie Pearson, Neil Sebire, Patrick Tarpey, Andrew Futreal, Tony Brooks, Michael R Stratton, John Anderson
Publicado no PLoS ONE (2014-01-01)

Ex vivo precision-cut liver slices model disease phenotype and monitor therapeutic response for liver monogenic diseases [version 2; peer review: 2 approved]

Por Andrea Frassetto, Julien Baruteau, Lisa Rice, Paolo G.V. Martini, Alex Cavedon, Summar Siddiqui, Neil Sebire, Patrick F Finn, Claire Duff, Garima Sharma, Sonam Gurung, Loukia Touramanidou, Dany Perocheau
Publicado no F1000Research (2024-04-01)

Targetable NOTCH1 rearrangements in reninoma

Por Taryn D. Treger, John E. G. Lawrence, Nathaniel D. Anderson, Tim H. H. Coorens, Aleksandra Letunovska, Emilie Abby, Henry Lee-Six, Thomas R. W. Oliver, Reem Al-Saadi, Kjell Tullus, Guillaume Morcrette, J. Ciaran Hutchinson, Dyanne Rampling, Neil Sebire, Kathy Pritchard-Jones, Matthew D. Young, Thomas J. Mitchell, Philip H. Jones, Maxine Tran, Sam Behjati, Tanzina Chowdhury
Publicado no Nature Communications (2023-09-01)

Case Report: ISG15 deficiency caused by novel variants in two families and effective treatment with Janus kinase inhibition

Por Alice Burleigh, Alice Burleigh, Elena Moraitis, Eman Al Masroori, Eslam Al-Abadi, Ying Hong, Ebun Omoyinmi, Hannah Titheradge, Hannah Titheradge, Karen Stals, Wendy D. Jones, Anthony Gait, Vignesh Jayarajan, Wei-Li Di, Neil Sebire, Lea Solman, Malobi Ogboli, Steven B. Welch, Annapurna Sudarsanam, Ian Wacogne, Fiona Price-Kuehne, Barbara Jensen, Paul A. Brogan, Paul A. Brogan, Despina Eleftheriou, Despina Eleftheriou, Despina Eleftheriou
Publicado no Frontiers in Immunology (2023-12-01)

International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease

Por Katherine B. Howell, Susan M. White, Amy McTague, Alissa M. D’Gama, Gregory Costain, Annapurna Poduri, Ingrid E. Scheffer, Vann Chau, Lindsay D. Smith, Sarah E. M. Stephenson, Monica Wojcik, Andrew Davidson, Neil Sebire, Piotr Sliz, Alan H. Beggs, Lyn S. Chitty, Ronald D. Cohn, Christian R. Marshall, Nancy C. Andrews, Kathryn N. North, J. Helen Cross, John Christodoulou, Stephen W. Scherer
Publicado no npj Genomic Medicine (2025-02-01)

Recurrent intragenic rearrangements of EGFR and BRAF in soft tissue tumors of infants

Por Jenny Wegert, Christian Vokuhl, Grace Collord, Martin Del Castillo Velasco-Herrera, Sarah J. Farndon, Charlotte Guzzo, Mette Jorgensen, John Anderson, Olga Slater, Catriona Duncan, Sabrina Bausenwein, Heike Streitenberger, Barbara Ziegler, Rhoikos Furtwängler, Norbert Graf, Michael R. Stratton, Peter J. Campbell, David TW Jones, Christian Koelsche, Stefan M. Pfister, William Mifsud, Neil Sebire, Monika Sparber-Sauer, Ewa Koscielniak, Andreas Rosenwald, Manfred Gessler, Sam Behjati
Publicado no Nature Communications (2018-06-01)

Multi-stage bioengineering of a layered oesophagus with in vitro expanded muscle and epithelial adult progenitors

Por Luca Urbani, Carlotta Camilli, Demetra-Ellie Phylactopoulos, Claire Crowley, Dipa Natarajan, Federico Scottoni, Panayiotis Maghsoudlou, Conor J. McCann, Alessandro Filippo Pellegata, Anna Urciuolo, Koichi Deguchi, Sahira Khalaf, Salvatore Ferdinando Aruta, Maria Cristina Signorelli, David Kiely, Edward Hannon, Matteo Trevisan, Rui Rachel Wong, Marc Olivier Baradez, Dale Moulding, Alex Virasami, Asllan Gjinovci, Stavros Loukogeorgakis, Sara Mantero, Nikhil Thapar, Neil Sebire, Simon Eaton, Mark Lowdell, Giulio Cossu, Paola Bonfanti, Paolo De Coppi
Publicado no Nature Communications (2018-10-01)

Single cell derived mRNA signals across human kidney tumors

Por Matthew D. Young, Thomas J. Mitchell, Lars Custers, Thanasis Margaritis, Francisco Morales-Rodriguez, Kwasi Kwakwa, Eleonora Khabirova, Gerda Kildisiute, Thomas R. W. Oliver, Ronald R. de Krijger, Marry M. van den Heuvel-Eibrink, Federico Comitani, Alice Piapi, Eva Bugallo-Blanco, Christine Thevanesan, Christina Burke, Elena Prigmore, Kirsty Ambridge, Kenny Roberts, Felipe A. Vieira Braga, Tim H. H. Coorens, Ignacio Del Valle, Anna Wilbrey-Clark, Lira Mamanova, Grant D. Stewart, Vincent J. Gnanapragasam, Dyanne Rampling, Neil Sebire, Nicholas Coleman, Liz Hook, Anne Warren, Muzlifah Haniffa, Marcel Kool, Stefan M. Pfister, John C. Achermann, Xiaoling He, Roger A. Barker, Adam Shlien, Omer A. Bayraktar, Sarah A. Teichmann, Frank C. Holstege, Kerstin B. Meyer, Jarno Drost, Karin Straathof, Sam Behjati
Publicado no Nature Communications (2021-06-01)