Publications

Using evolutionary constraint to define novel candidate driver genes in medulloblastoma.

Roy A, Sakthikumar S, Kozyrev S V, et al. Using evolutionary constraint to define novel candidate driver genes in medulloblastoma. Proceedings of the National Academy of Sciences of the United States of America. 2023;120(33):e2300984120. doi:10.1073/pnas.2300984120

A Potential Source of Bias in Group-Level EEG Microstate Analysis.

Murphy M, Wang J, Jiang C, et al. A Potential Source of Bias in Group-Level EEG Microstate Analysis. Brain topography. 2023. doi:10.1007/s10548-023-00992-7

Genome-Wide Association Study Identifies 4 Novel Risk Loci for Small Intestinal Neuroendocrine Tumors Including a Missense Mutation in LGR5.

Giri AK, Aavikko M, Wartiovaara L, et al. Genome-Wide Association Study Identifies 4 Novel Risk Loci for Small Intestinal Neuroendocrine Tumors Including a Missense Mutation in LGR5. Gastroenterology. 2023. doi:10.1053/j.gastro.2023.06.031

Protospacer modification improves base editing of a canonical splice site variant and recovery of CFTR function in human airway epithelial cells.

Joynt AT, Kavanagh EW, Newby GA, et al. Protospacer modification improves base editing of a canonical splice site variant and recovery of CFTR function in human airway epithelial cells. Molecular therapy. Nucleic acids. 2023;33:335-350. doi:10.1016/j.omtn.2023.06.020

Vitamin D and Early-Onset Colorectal Cancer-Rays of Hope?

Cao Y, Chan AT. Vitamin D and Early-Onset Colorectal Cancer-Rays of Hope? Gastroenterology. 2023. doi:10.1053/j.gastro.2023.08.002

MicroRNA Biomarkers Target Genes and Pathways Associated with Type 2 Diabetes.

Kariuki D, Aouizerat BE, Asam K, et al. MicroRNA Biomarkers Target Genes and Pathways Associated with Type 2 Diabetes. Diabetes research and clinical practice. 2023:110868. doi:10.1016/j.diabres.2023.110868

Multi-PGS enhances polygenic prediction by combining 937 polygenic scores.

Albiñana C, Zhu Z, Schork AJ, et al. Multi-PGS enhances polygenic prediction by combining 937 polygenic scores. Nature communications. 2023;14(1):4702. doi:10.1038/s41467-023-40330-w

Machine learning-based prediction of suicidality in adolescents during the COVID-19 pandemic (2020-2021): Derivation and validation in two independent nationwide cohorts.

Kwon R, Lee H, Kim MS, Lee J, Yon DK. Machine learning-based prediction of suicidality in adolescents during the COVID-19 pandemic (2020-2021): Derivation and validation in two independent nationwide cohorts. Asian journal of psychiatry. 2023;88:103704. doi:10.1016/j.ajp.2023.103704

Beyond the exome: What's next in diagnostic testing for Mendelian conditions.

Wojcik MH, Reuter CM, Marwaha S, et al. Beyond the exome: What’s next in diagnostic testing for Mendelian conditions. American journal of human genetics. 2023;110(8):1229-1248. doi:10.1016/j.ajhg.2023.06.009

Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.

Sanchis-Juan A, Megy K, Stephens J, et al. Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders. American journal of human genetics. 2023;110(8):1343-1355. doi:10.1016/j.ajhg.2023.07.007

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Publications

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