Research output per year
Research output per year
Personal profile
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Dive into the research topics where Nicole Shaw is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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A precision medicine approach to interpret a GATA4 genetic variant in a paediatric patient with congenital heart disease
Forbes, C. A., Shaw, N. C., Chen, K. G., Hedges, M., Er, T. S., Hool, L., Ward, M., Poulton, C., Baynam, G., Lassmann, T. & Fear, V. S., Dec 2026, In: Human genomics. 20, 1, 29.Research output: Contribution to journal › Article › peer-review
Open Access -
Functional characterization of the MED12 p.Arg1138Trp variant in females: implications for neural development and disease mechanism
Shaw, N. C., Harrison, S., Chen, K., Forbes, C. A., Kuzminski, E., Hedges, M., Farley, K. O., Ward, M., Loughman, L., Poulton, C., Baynam, G., Lassmann, T. & Fear, V. S., Dec 2025, In: Molecular Medicine. 31, 1, 300.Research output: Contribution to journal › Article › peer-review
Open Access -
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 Access6 Link opens in a new tab Citations (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 Access4 Link opens in a new tab Citations (Scopus) -
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 Access8 Link opens in a new tab Citations (Scopus)
Datasets
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Additional file 5 of A precision medicine approach to interpret a GATA4 genetic variant in a paediatric patient with congenital heart disease
Forbes, C. A. (Creator), Shaw, N. C. (Creator), Chen, K. G. (Creator), Hedges, M. (Creator), Er, T. S. (Creator), Hool, L. (Creator), Ward, M. (Creator), Poulton, C. (Creator), Baynam, G. (Creator), Lassmann, T. (Creator) & Fear, V. S. (Creator), Figshare, 4 Feb 2026
DOI: 10.6084/m9.figshare.31246343
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 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.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
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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
Projects
- 1 Finished
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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