Methods and applications of in vivo CRISPR screening
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Molecular genetics of J-domain protein-related chaperonopathies in skeletal muscle
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Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients
Cohort characteristics and model risk score distribution The study cohort comprised 92,493 patients enrolled in the DT Biobank…
Decomposition of phenotypic heterogeneity in autism reveals underlying genetic programs
Ethics We received approval to access and analyze deidentified genetic and phenotypic data from the two cohorts from…
Molecular genetics of myotonic dystrophy and the evolution of therapeutic approaches
Nakamori, M & Takahashi, MP Myotonic dystrophy. In: Takeda S, Miyagoe-Suzuki Y, Mori-Yoshimura M, editors. Translational research in…
How chemotherapy shapes hematopoietic stem cells
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Structural variants in the 3D genome as drivers of disease
Kaschta, D. et al. Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis. Preprint…
How and when organisms edit their own genomes
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