Research output per year
Research output per year
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Dive into the research topics where Timo Lassmann is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Research output
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An expanded phenotype centric benchmark of variant prioritisation tools
Anderson, D. & Lassmann, T., 2022, (Accepted/In press) In: Human Mutation.Research output: Contribution to journal › Article › peer-review
Open Access -
CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiency
Fear, V. S., Forbes, C. A., Anderson, D., Rauschert, S., Syn, G., Shaw, N., Jamieson, S., Ward, M., Baynam, G. & Lassmann, T., Dec 2022, In: Stem Cell Research and Therapy. 13, 1, 69.Research output: Contribution to journal › Article › peer-review
Open Access1 Citation (Scopus) -
Functional validation of variants of unknown significance using CRISPR gene editing and transcriptomics: A Kleefstra syndrome case study
Fear, V. S., Forbes, C. A., Anderson, D., Rauschert, S., Syn, G., Shaw, N., Jones, M. E., Forrest, A. RR., Baynam, G. & Lassmann, T., 5 May 2022, In: Gene. 821, 146287.Research output: Contribution to journal › Article › peer-review
Open Access -
Common and Rare Genetic Variants That Could Contribute to Severe Otitis Media in an Australian Aboriginal Population
Jamieson, S. E., Fakiola, M., Tang, D., Scaman, E., Syn, G., Francis, R. W., Coates, H. L., Anderson, D., Lassmann, T., Cordell, H. J. & Blackwell, J. M., 15 Nov 2021, In: Clinical Infectious Diseases. 73, 10, p. 1860-1870 11 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Citation (Scopus) -
Discovery of widespread transcription initiation at microsatellites predictable by sequence-based deep neural network
FANTOM Consortium, Dec 2021, In: Nature Communications. 12, 1, 3297.Research output: Contribution to journal › Article › peer-review
Open Access4 Citations (Web of Science)
Datasets
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Transcription start site profiling of 15 anatomical regions of the Macaca mulatta central nervous system
Francescatto, M. (Creator), Lizio, M. (Creator), Philippens, I. (Creator), Bontrop, R. (Creator), Sakai, M. (Creator), Watanabe, S. (Creator), Itoh, M. (Creator), Hasegawa, A. (Creator), Lassmann, T. (Creator), Severin, J. (Creator), Harshbarger, J. (Creator), Abugessaisa, I. (Creator), Kasukawa, T. (Creator), Carninci, P. (Creator), Hayashizaki, Y. (Creator), Forrest, A. (Creator), Kawaji, H. (Creator), Rizzu, P. (Creator) & Heutink, P. (Creator), Scientific Data, 31 Oct 2017
DOI: 10.1038/sdata.2017.163, https://www.nature.com/articles/sdata2017163
Dataset
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Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis and treatment.
Fear, V., Lassmann, T. & Baynam, G.
1/02/22 → 31/01/23
Project: Research
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Functional genomics and neuronal disease modelling to facilitate rare disease diagnosis
Fear, V., Lassmann, T., Baynam, G. & Groza, T.
1/10/21 → 30/09/23
Project: Research
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Personalised analytics to improve diagnostic rates in clinical sequencing
1/06/21 → 31/03/23
Project: Research
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GNT2007567 - The Australian Undiagnosed Diseases Network (UDN-Aus): An internationally networked national approach for transforming diagnosis for individuals living with rare diseases.
Christodoulou, J., Baynam, G., White, S., Palmer, E., Hermes, A., McGaughran, J., Lassmann, T., Sallevelt, S., Tan, T. & Wallis, M.
Medical Research Future Fund MRFF
1/06/21 → 31/05/24
Project: Research