Research output per year
Research output per year
Personal profile
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
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Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction
Farley, K. O., Forbes, C. A., Shaw, N. C., Kuzminski, E., Ward, M., Baynam, G., Lassmann, T. & Fear, V. S., 11 Jan 2024, In: Human Genetics and Genomics Advances. 5, 1, 100257.Research output: Contribution to journal › Article › peer-review
Open Access1 Citation (Scopus) -
Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modelling
Shaw, N. C., Chen, K., Farley, K. O., Hedges, M., Forbes, C., Baynam, G., Lassmann, T. & Fear, V. S., Dec 2024, In: Molecular autism. 15, 16 p., 42.Research output: Contribution to journal › Article › peer-review
Open Access -
Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease
Fear, V. S., Forbes, C. A., Shaw, N. C., Farley, K. O., Mantegna, J. L., Htun, J. P., Syn, G., Viola, H., Cserne Szappanos, H., Hool, L., Ward, M., Baynam, G. & Lassmann, T., 5 Dec 2023, In: Stem Cell Research and Therapy. 14, 1, 14 p., 345.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. R., Baynam, G. & Lassmann, T., 5 May 2022, In: Gene. 821, 146287.Research output: Contribution to journal › Article › peer-review
Open Access7 Citations (Scopus) -
Primary Nasal Epithelial Cells as a Surrogate Cell Culture Model for Type-II Alveolar Cells to Study ABCA-3 Deficiency
Shaw, N. C., Kicic, A., Fletcher, S., Wilton, S. D., Stick, S. M. & Schultz, A., 21 Feb 2022, In: Frontiers in Medicine. 9, 827416.Research output: Contribution to journal › Article › peer-review
Open Access
Datasets
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Additional file 3 of Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease
Fear, V. S. (Creator), Forbes, C. A. (Creator), Shaw, N. C. (Creator), Farley, K. O. (Creator), Mantegna, J. L. (Creator), Htun, J. P. (Creator), Syn, G. (Creator), Viola, H. (Creator), Cserne Szappanos, H. (Creator), Hool, L. (Creator), Ward, M. (Creator), Baynam, G. (Creator) & Lassmann, T. (Creator), Figshare, 14 Aug 2024
DOI: 10.6084/m9.figshare.26649507, https://springernature.figshare.com/articles/dataset/Additional_file_3_of_Gene_editing_and_cardiac_disease_modelling_for_the_interpretation_of_genetic_variants_of_uncertain_significance_in_congenital_heart_disease/26649507
Dataset
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Additional file 3 of Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease
Fear, V. S. (Creator), Forbes, C. A. (Creator), Shaw, N. C. (Creator), Farley, K. O. (Creator), Mantegna, J. L. (Creator), Htun, J. P. (Creator), Syn, G. (Creator), Viola, H. (Creator), Cserne Szappanos, H. (Creator), Hool, L. (Creator), Ward, M. (Creator), Baynam, G. (Creator) & Lassmann, T. (Creator), Figshare, 14 Aug 2024
DOI: 10.6084/m9.figshare.26649507.v1, https://springernature.figshare.com/articles/dataset/Additional_file_3_of_Gene_editing_and_cardiac_disease_modelling_for_the_interpretation_of_genetic_variants_of_uncertain_significance_in_congenital_heart_disease/26649507/1
Dataset
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Additional file 2 of Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modelling
Shaw, N. C. (Creator), Chen, K. (Creator), Farley, K. O. (Creator), Hedges, M. (Creator), Forbes, C. (Creator), Baynam, G. (Creator), Lassmann, T. (Creator) & Fear, V. S. (Creator), Figshare, 1 Oct 2024
DOI: 10.6084/m9.figshare.27140535, https://springernature.figshare.com/articles/dataset/Additional_file_2_of_Identifying_SETBP1_haploinsufficiency_molecular_pathways_to_improve_patient_diagnosis_using_induced_pluripotent_stem_cells_and_neural_disease_modelling/27140535
Dataset
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Additional file 2 of Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modelling
Shaw, N. C. (Creator), Chen, K. (Creator), Farley, K. O. (Creator), Hedges, M. (Creator), Forbes, C. (Creator), Baynam, G. (Creator), Lassmann, T. (Creator) & Fear, V. S. (Creator), Figshare, 1 Oct 2024
DOI: 10.6084/m9.figshare.27140535.v1, https://springernature.figshare.com/articles/dataset/Additional_file_2_of_Identifying_SETBP1_haploinsufficiency_molecular_pathways_to_improve_patient_diagnosis_using_induced_pluripotent_stem_cells_and_neural_disease_modelling/27140535/1
Dataset
Projects
- 1 Active
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Assessment of a VUS in DNAI2 using gene editing in iPSCs and motile cilia modelling.
Shaw, N. (Investigator 01)
Murdoch Children's Research Institute
1/12/23 → 31/01/25
Project: Research