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Publications

Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants.

Haghighi A, Alvandi Z, Nilipour Y, et al. Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants. European journal of human genetics : EJHG. 2023. doi:10.1038/s41431-023-01378-w

H3K36 methylation maintains cell identity by regulating opposing lineage programmes.

Hoetker MS, Yagi M, Di Stefano B, et al. H3K36 methylation maintains cell identity by regulating opposing lineage programmes. Nature cell biology. 2023. doi:10.1038/s41556-023-01191-z

Musashi-1 regulates cell cycle and confers resistance to cisplatin treatment in Group 3/4 medulloblastomas cells.

Chagas PS, Veronez LC, de Sousa GR, et al. Musashi-1 regulates cell cycle and confers resistance to cisplatin treatment in Group 3/4 medulloblastomas cells. Human cell. 2023. doi:10.1007/s13577-023-00954-y

The Tyrosine Kinase Inhibitor Lenvatinib Inhibits Anaplastic Thyroid Carcinoma Growth by Targeting Pericytes in the Tumor Microenvironment.

Iesato A, Li S, Sadow PM, et al. The Tyrosine Kinase Inhibitor Lenvatinib Inhibits Anaplastic Thyroid Carcinoma Growth by Targeting Pericytes in the Tumor Microenvironment. Thyroid : official journal of the American Thyroid Association. 2023;33(7):835-848. doi:10.1089/thy.2022.0597

How nearby nutrients shape tumor growth.

Kalaany N. How nearby nutrients shape tumor growth. eLife. 2023;12. doi:10.7554/eLife.89825

Attitudes about pharmacogenomic testing vary by healthcare specialty.

Preys CL, Zawatsky CLB, Massmann A, et al. Attitudes about pharmacogenomic testing vary by healthcare specialty. Pharmacogenomics. 2023. doi:10.2217/pgs-2023-0039

Elucidating the risk of colorectal cancer for variants in hereditary colorectal cancer genes.

Mahmood K, Thomas M, Qu C, et al. Elucidating the risk of colorectal cancer for variants in hereditary colorectal cancer genes. Gastroenterology. 2023. doi:10.1053/j.gastro.2023.06.032

FDX1 regulates cellular protein lipoylation through direct binding to LIAS.

Dreishpoon MB, Bick NR, Petrova B, et al. FDX1 regulates cellular protein lipoylation through direct binding to LIAS. The Journal of biological chemistry. 2023:105046. doi:10.1016/j.jbc.2023.105046

Machine learning-based markers for CAD.

Elliott A, Pirruccello JP. Machine learning-based markers for CAD. Lancet (London, England). 2023;402(10397):182-183. doi:10.1016/S0140-6736(23)01061-9

A protocol for high-throughput screening for immunomodulatory compounds using human primary cells.

Chew K, Lee B, Ozonoff A, et al. A protocol for high-throughput screening for immunomodulatory compounds using human primary cells. STAR protocols. 2023;4(3):102405. doi:10.1016/j.xpro.2023.102405