Zoekresultaten - Timo Lassmann

Single-cell data combined with phenotypes improves variant interpretation door Timothy Chapman, Timo Lassmann

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Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modelling door Nicole C. Shaw, Kevin Chen, Kathryn O. Farley, Mitchell Hedges, Catherine Forbes, Gareth Baynam, Timo Lassmann, Vanessa S. Fear

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CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction door Kathryn O. Farley, Catherine A. Forbes, Nicole C. Shaw, Emma Kuzminski, Michelle Ward, Gareth Baynam, Timo Lassmann, Vanessa S. Fear

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Ceruloplasmin is a novel adipokine which is overexpressed in adipose tissue of obese subjects and in obesity-associated cancer cells. door Erik Arner, Alistair R R Forrest, Anna Ehrlund, Niklas Mejhert, Masayoshi Itoh, Hideya Kawaji, Timo Lassmann, Jurga Laurencikiene, Mikael Rydén, Peter Arner, FANTOM Consortium

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A precision medicine approach to interpret a GATA4 genetic variant in a paediatric patient with congenital heart disease door Catherine A. Forbes, Nicole C. Shaw, Kevin G. Chen, Mitchell Hedges, Teagan S. Er, Livia Hool, Michelle Ward, Cathryn Poulton, Gareth Baynam, Timo Lassmann, Vanessa S. Fear

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Functional characterization of the MED12 p.Arg1138Trp variant in females: implications for neural development and disease mechanism door Nicole C. Shaw, Saraya Harrison, Kevin Chen, Catherine A. Forbes, Emma Kuzminski, Mitchell Hedges, Kathryn O. Farley, Michelle Ward, Lily Loughman, Cathryn Poulton, Gareth Baynam, Timo Lassmann, Vanessa S. Fear

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Application of Gene Expression Trajectories Initiated from ErbB Receptor Activation Highlights the Dynamics of Divergent Promoter Usage. door Daniel Carbajo, Shigeyuki Magi, Masayoshi Itoh, Hideya Kawaji, Timo Lassmann, Erik Arner, Alistair R R Forrest, Piero Carninci, Yoshihide Hayashizaki, Carsten O Daub, FANTOM consortium, Mariko Okada-Hatakeyama, Jessica C Mar

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The United Nations convention on rare diseases—A framework for research prioritization door Mohammed Junaid, Mohammed Junaid, Jenny Downs, Jenny Downs, Tudor Groza, Tudor Groza, Timo Lassmann, Sue Baker, Kaila Stevens, Jake Keeffe, Dylan Gration, Amanda Newell, Jamie Duckers, Gareth Baynam, Gareth Baynam, Gareth Baynam

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Systematic analysis of transcription start sites in avian development. door Marina Lizio, Ruslan Deviatiiarov, Hiroki Nagai, Laura Galan, Erik Arner, Masayoshi Itoh, Timo Lassmann, Takeya Kasukawa, Akira Hasegawa, Marian A Ros, Yoshihide Hayashizaki, Piero Carninci, Alistair R R Forrest, Hideya Kawaji, Oleg Gusev, Guojun Sheng

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Time-course RNAseq data of murine AB1 mesothelioma and Renca renal cancer following immune checkpoint therapy door Wee Loong Chin, Rachael M. Zemek, Caitlin M. Tilsed, Alistair R. R. Forrest, Vanessa S. Fear, Catherine Forbes, Louis Boon, Anthony Bosco, Belinda B. Guo, Michael J. Millward, Anna K. Nowak, Richard A. Lake, W. Joost Lesterhuis, Timo Lassmann

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Searching for a technology-driven acute rheumatic fever test: the START study protocol door David Broadhurst, Bo Remenyi, Timothy C Barnett, Jonathan R Carapetis, Jennifer Yan, Anna P Ralph, Glenn Pearson, Mark Mayo, Rachel Webb, Nicole J Moreland, Reuben McGregor, Anthony Bosco, Timo Lassmann, Rym Benothman, Julie Bennett, Nigel Wilson, Tobias Kollmann

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Analysis of the human monocyte-derived macrophage transcriptome and response to lipopolysaccharide provides new insights into genetic aetiology of inflammatory bowel disease. door J Kenneth Baillie, Erik Arner, Carsten Daub, Michiel De Hoon, Masayoshi Itoh, Hideya Kawaji, Timo Lassmann, Piero Carninci, Alistair R R Forrest, Yoshihide Hayashizaki, FANTOM Consortium, Geoffrey J Faulkner, Christine A Wells, Michael Rehli, Paul Pavli, Kim M Summers, David A Hume

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Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases door Clara D. M. van Karnebeek, Anne O’Donnell-Luria, Gareth Baynam, Anaïs Baudot, Tudor Groza, Judith J. M. Jans, Timo Lassmann, Mary Catherine V. Letinturier, Stephen B. Montgomery, Peter N. Robinson, Stefaan Sansen, Ruty Mehrian-Shai, Charles Steward, Kenjiro Kosaki, Patricia Durao, Bekim Sadikovic

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Mesothelioma location influences the tumour microenvironment and immune checkpoint therapy response in preclinical models door M. Lizeth Orozco Morales, Sally M. Lansley, Wee Loong Chin, Caitlin M. Tilsed, Nicola Principe, Connull Leslie, Breana J. Vitali, Francois X. Rwandamuriye, Emma de Jong, Joel Kidman, Rachael M. Zemek, Catherine A. Rinaldi, Timo Lassmann, Anthony Bosco, Y. C. Gary Lee, Richard A. Lake, Jonathan Chee, W. Joost Lesterhuis

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Immune checkpoint therapy responders display early clonal expansion of tumor infiltrating lymphocytes door Joel Kidman, Rachael M. Zemek, John-William Sidhom, Debora Correa, Nicola Principe, Fezaan Sheikh, Vanessa S. Fear, Catherine A. Forbes, Abha Chopra, Louis Boon, Ayham Zaitouny, Emma de Jong, Robert A. Holt, Matt Jones, Michael J. Millward, Timo Lassmann, Alistair R.R. Forrest, Anna K. Nowak, Mark Watson, Richard A. Lake, W. Joost Lesterhuis, Jonathan Chee

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Coupling of response biomarkers between tumor and peripheral blood in patients undergoing chemoimmunotherapy door Wee Loong Chin, Alistair M. Cook, Jonathan Chee, Nicola Principe, Tracy S. Hoang, Joel Kidman, Khaing P.W. Hmon, Yen Yeow, Matthew E. Jones, Rui Hou, Elena Denisenko, Alison M. McDonnell, Chung-Chau Hon, Jonathan Moody, Denise Anderson, Sonia Yip, Michelle M. Cummins, Martin R. Stockler, Peey-Sei Kok, Chris Brown, Thomas John, Steven C.-H. Kao, Deme J. Karikios, Kenneth J. O’Byrne, Brett G.M. Hughes, Richard A. Lake, Alistair R.R. Forrest, Anna K. Nowak, Timo Lassmann, W. Joost Lesterhuis

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