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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

Classification and functional characterization of regulators of intracellular STING trafficking identified by genome-wide optical pooled screening.

Gentili M, Carlson RJ, Liu B, et al. Classification and functional characterization of regulators of intracellular STING trafficking identified by genome-wide optical pooled screening. Cell systems. 2024. doi:10.1016/j.cels.2024.11.004

Disagreement on foundational principles of biological aging.

Gladyshev VN, Anderson B, Barlit H, et al. Disagreement on foundational principles of biological aging. PNAS nexus. 2024;3(12):pgae499. doi:10.1093/pnasnexus/pgae499

Synergistic label-free fluorescence imaging and miRNA studies reveal dynamic human neuron-glial metabolic interactions following injury.

Zhang Y, Savvidou M, Liaudanskaya V, et al. Synergistic label-free fluorescence imaging and miRNA studies reveal dynamic human neuron-glial metabolic interactions following injury. Science advances. 2024;10(50):eadp1980. doi:10.1126/sciadv.adp1980