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Publications

Processes and outcomes from a clinical genetics e-consultation service managed by a primary care physician champion.

Kerman BJ, Zawatsky CBL, Fieg E, et al. Processes and outcomes from a clinical genetics e-consultation service managed by a primary care physician champion. Genetics in medicine open. 2024;2:101831. doi:10.1016/j.gimo.2024.101831

-related disorder in 87 adults: Natural history and self-sustainability.

van der Sluijs PJ, Gösgens M, Dingemans AJM, et al. -related disorder in 87 adults: Natural history and self-sustainability. Genetics in medicine open. 2024;2:101873. doi:10.1016/j.gimo.2024.101873

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets.

Weisburd B, Sharma R, Pata V, et al. Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets. Genetics in medicine : official journal of the American College of Medical Genetics. 2024:101336. doi:10.1016/j.gim.2024.101336

Natural language processing and expert follow-up establishes tachycardia association with CDKL5 deficiency disorder.

Ivaniuk A, Boßelmann CM, Zhang X, et al. Natural language processing and expert follow-up establishes tachycardia association with CDKL5 deficiency disorder. Genetics in medicine open. 2024;2:100842. doi:10.1016/j.gimo.2023.100842

Baseline immune state and T-cell clonal kinetics are associated with durable response to CAR-T therapy in large B-cell lymphoma.

Maurer K, Grabski IN, Houot R, et al. Baseline immune state and T-cell clonal kinetics are associated with durable response to CAR-T therapy in large B-cell lymphoma. Blood. 2024;144(24):2490-2502. doi:10.1182/blood.2024024381

Haematological setpoints are a stable and patient-specific deep phenotype.

Foy BH, Petherbridge R, Roth MT, et al. Haematological setpoints are a stable and patient-specific deep phenotype. Nature. 2024. doi:10.1038/s41586-024-08264-5

π-HuB: the proteomic navigator of the human body.

He F, Aebersold R, Baker MS, et al. π-HuB: the proteomic navigator of the human body. Nature. 2024;636(8042):322-331. doi:10.1038/s41586-024-08280-5

Unbiased discovery of antibody therapies that stimulate macrophage-mediated destruction of B-cell lymphoma.

Ribeiro J, Pagès-Geli C, Meglan A, et al. Unbiased discovery of antibody therapies that stimulate macrophage-mediated destruction of B-cell lymphoma. bioRxiv : the preprint server for biology. 2024. doi:10.1101/2024.11.13.623229

Chronic Viral Reactivation and Associated Host Immune Response and Clinical Outcomes in Acute COVID-19 and Post-Acute Sequelae of COVID-19.

Maguire C, Chen J, Rouphael N, et al. Chronic Viral Reactivation and Associated Host Immune Response and Clinical Outcomes in Acute COVID-19 and Post-Acute Sequelae of COVID-19. bioRxiv : the preprint server for biology. 2024. doi:10.1101/2024.11.14.622799

Hormone-induced thrombosis is mediated through non-canonical fibrin(ogen) aggregation and a novel estrogen target in zebrafish.

Yu X, Zhao QY, Yaman M, et al. Hormone-induced thrombosis is mediated through non-canonical fibrin(ogen) aggregation and a novel estrogen target in zebrafish. bioRxiv : the preprint server for biology. 2024. doi:10.1101/2024.11.13.623199