Bibliotecas PUC-SP - Busca Integrada

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

Tekijä Ebun Omoyinmi, Dorota Rowczenio, Neil Sebire, Paul A. Brogan, Despina Eleftheriou
Julkaisussa 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

Tekijä Linda Lei, Sabina Muhammad, Muthana Al-Obaidi, Neil Sebire, Iek Leng Cheng, Despina Eleftheriou, Paul Brogan
Julkaisussa Pediatric Rheumatology Online Journal (2018-09-01)

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

Tekijä Neil Sebire, Monica Jones, Caroline Cake, Ben Gordon, Jake Barrett, Clara Fennessy, Adam Milward, Courtney Irwin
Julkaisussa BMJ Health & Care Informatics (2021-03-01)

Testicular ischemia in deficiency of adenosine deaminase 2 (DADA2)

Tekijä Katherine Clarke, Cathy Campbell, Ebun Omoyinmi, Ying Hong, Muthana Al Obaidi, Neil Sebire, Paul A. Brogan
Julkaisussa Pediatric Rheumatology Online Journal (2019-07-01)

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

Tekijä Millicent Nwandison, Elizabeth Daly‐Jones, Alexandra Drought, Lisa Story, Philippe De‐Rosnay, Neil Sebire, David Nyberg, Yinka Oyelese
Julkaisussa Acta Obstetricia et Gynecologica Scandinavica (2024-07-01)

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

Tekijä Jingteng Li, Kimberley R. Zakka, John Booth, Louise Rigny, Samiran Ray, Mario Cortina-Borja, Payam Barnaghi, Neil Sebire
Julkaisussa 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

Tekijä Laura Privitera, Layla Musleh, Irene Paraboschi, Olumide Ogunlade, Olumide Ogunbiyi, J. Ciaran Hutchinson, Neil Sebire, Paul Beard, Stefano Giuliani
Julkaisussa Cancers (2023-02-01)

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

Tekijä Esmond Urwin, Andy Harris, Jenny Johnstone, Erum Masood, Antony Chuter, Michael Ferguson, Joanne Martin, Neil Sebire, Philip Quinlan, Emily Jefferson
Julkaisussa International Journal of Population Data Science (2022-08-01)

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

Tekijä Elham Asgari, Japsimar Kaur, Gani Nuredini, Jasmine Balloch, Andrew M Taylor, Neil Sebire, Robert Robinson, Catherine Peters, Shankar Sridharan, Dominic Pimenta
Julkaisussa JMIR Medical Informatics (2024-04-01)

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

Tekijä Neil Sebire, Trevor Heritage, Ben Gordon, Susheel Varma, Jake Barrett, Clara Fennessy, Victor Banda, Enez McCondochie, Oenone Duroe, Richard Jeffery, Vishnu Rajamani, Kieran Earlam
Julkaisussa BMJ Open (2022-05-01)

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

Tekijä 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
Julkaisussa Journal of Pathology Informatics (2025-08-01)

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

Tekijä 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
Julkaisussa Life (2024-08-01)

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

Tekijä 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
Julkaisussa 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]

Tekijä 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
Julkaisussa F1000Research (2024-04-01)

Targetable NOTCH1 rearrangements in reninoma

Tekijä 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
Julkaisussa Nature Communications (2023-09-01)

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

Tekijä 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
Julkaisussa Frontiers in Immunology (2023-12-01)

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

Tekijä 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
Julkaisussa npj Genomic Medicine (2025-02-01)

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

Tekijä 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
Julkaisussa Nature Communications (2018-06-01)

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

Tekijä 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
Julkaisussa Nature Communications (2018-10-01)

Single cell derived mRNA signals across human kidney tumors

Tekijä 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
Julkaisussa Nature Communications (2021-06-01)