Ohcanbohtosat - Timo Lassmann

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

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Personalised analytics for rare disease diagnostics Dahkki Denise Anderson, Gareth Baynam, Jenefer M. Blackwell, Timo Lassmann

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Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modelling Dahkki 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 Dahkki Kathryn O. Farley, Catherine A. Forbes, Nicole C. Shaw, Emma Kuzminski, Michelle Ward, Gareth Baynam, Timo Lassmann, Vanessa S. Fear

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CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiency Dahkki Vanessa S. Fear, Catherine A. Forbes, Denise Anderson, Sebastian Rauschert, Genevieve Syn, Nicole Shaw, Sarra Jamieson, Michelle Ward, Gareth Baynam, Timo Lassmann

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Ceruloplasmin is a novel adipokine which is overexpressed in adipose tissue of obese subjects and in obesity-associated cancer cells. Dahkki 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 Dahkki 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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Conserved temporal ordering of promoter activation implicates common mechanisms governing the immediate early response across cell types and stimuli Dahkki Annalaura Vacca, Masayoshi Itoh, Hideya Kawaji, Erik Arner, Timo Lassmann, Carsten O. Daub, Piero Carninci, Alistair R. R. Forrest, Yoshihide Hayashizaki, Stuart Aitken, Colin A. Semple

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Systematic assessment of tissue dissociation and storage biases in single-cell and single-nucleus RNA-seq workflows Dahkki Elena Denisenko, Belinda B. Guo, Matthew Jones, Rui Hou, Leanne de Kock, Timo Lassmann, Daniel Poppe, Olivier Clément, Rebecca K. Simmons, Ryan Lister, Alistair R. R. Forrest

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Automated workflow for preparation of cDNA for cap analysis of gene expression on a single molecule sequencer. Dahkki Masayoshi Itoh, Miki Kojima, Sayaka Nagao-Sato, Eri Saijo, Timo Lassmann, Mutsumi Kanamori-Katayama, Ai Kaiho, Marina Lizio, Hideya Kawaji, Piero Carninci, Alistair R R Forrest, Yoshihide Hayashizaki

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Functional characterization of the MED12 p.Arg1138Trp variant in females: implications for neural development and disease mechanism Dahkki 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. Dahkki 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 Dahkki 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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Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease Dahkki Vanessa S. Fear, Catherine A. Forbes, Nicole C. Shaw, Kathryn O. Farley, Jessica L. Mantegna, Jasmin P. Htun, Genevieve Syn, Helena Viola, Henrietta Cserne Szappanos, Livia Hool, Michelle Ward, Gareth Baynam, Timo Lassmann

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Correction to: Relatively frequent switching of transcription start sites during cerebellar development Dahkki Peter Zhang, Emmanuel Dimont, Thomas Ha, Douglas J. Swanson, Masayoshi Itoh, Hideya Kawaji, Timo Lassmann, Carsten O. Daub, Erik Arner, the FANTOM Consortium, Piero Carninci, Yoshihide Hayashizaki, Alistair R. R. Forrest, Winston Hide, Dan Goldowitz

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Systematic analysis of transcription start sites in avian development. Dahkki 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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Transcriptional dynamics reveal critical roles for non-coding RNAs in the immediate-early response. Dahkki Stuart Aitken, Shigeyuki Magi, Ahmad M N Alhendi, Masayoshi Itoh, Hideya Kawaji, Timo Lassmann, Carsten O Daub, Erik Arner, Piero Carninci, Alistair R R Forrest, Yoshihide Hayashizaki, FANTOM Consortium, Levon M Khachigian, Mariko Okada-Hatakeyama, Colin A Semple

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Time-course RNAseq data of murine AB1 mesothelioma and Renca renal cancer following immune checkpoint therapy Dahkki 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 Dahkki 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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Characteristics of TCR Repertoire Associated With Successful Immune Checkpoint Therapy Responses Dahkki Joel Kidman, Joel Kidman, Nicola Principe, Nicola Principe, Mark Watson, Timo Lassmann, Robert A. Holt, Anna K. Nowak, Anna K. Nowak, Willem Joost Lesterhuis, Willem Joost Lesterhuis, Willem Joost Lesterhuis, Richard A. Lake, Richard A. Lake, Jonathan Chee, Jonathan Chee

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