Publications

A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing.

Johansson J, Lidéus S, Höijer I, et al. A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing. Scientific reports. 2023;13(1):12856. doi:10.1038/s41598-023-34413-3

Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison's disease.

Lundtoft C, Eriksson D, Bianchi M, et al. Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison’s disease. European journal of endocrinology. 2023. doi:10.1093/ejendo/lvad102

Macrocephaly and developmental delay caused by missense variants in RAB5C.

Koop K, Yuan W, Tessadori F, et al. Macrocephaly and developmental delay caused by missense variants in RAB5C. Human molecular genetics. 2023. doi:10.1093/hmg/ddad130

Antibody targeting of mutant calreticulin in myeloproliferative neoplasms.

Kramer F, Mullally A. Antibody targeting of mutant calreticulin in myeloproliferative neoplasms. Journal of cellular and molecular medicine. 2023. doi:10.1111/jcmm.17896

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.

Bosch E, Popp B, Güse E, et al. Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals. Genetics in medicine : official journal of the American College of Medical Genetics. 2023:100950. doi:10.1016/j.gim.2023.100950

Machine learning for genetics-based classification and treatment response prediction in cancer of unknown primary.

Moon I, LoPiccolo J, Baca SC, et al. Machine learning for genetics-based classification and treatment response prediction in cancer of unknown primary. Nature medicine. 2023. doi:10.1038/s41591-023-02482-6

Unsupervised removal of systematic background noise from droplet-based single-cell experiments using CellBender.

Fleming SJ, Chaffin MD, Arduini A, et al. Unsupervised removal of systematic background noise from droplet-based single-cell experiments using CellBender. Nature methods. 2023. doi:10.1038/s41592-023-01943-7

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

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Publications

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