Methods and applications of in vivo CRISPR screening
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NGLY1 deficiency – clinical features and therapeutic strategy
Suzuki T. Catabolism of N-glycoproteins in mammalian cells: molecular mechanisms and genetic disorders related to the processes. Mol…
Lessons learned from a muscle study in nail-patella syndrome | Orphanet Journal of Rare Diseases
Clinical findings The patient is the second child of healthy, non-consanguineous parents, who first presented at the age…
Mechanistic insights into 16p13.3 microdeletions encompassing TBC1D24 and ATP6V0C through advanced sequencing approaches
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Towards improved fine-mapping of candidate causal variants
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Molecular genetics of J-domain protein-related chaperonopathies in skeletal muscle
Kampinga HH, Andreasson C, Barducci A, Cheetham ME, Cyr D, Emanuelsson C, et al. Function, evolution, and structure…
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…
Viromics approaches for the study of viral diversity and ecology in microbiomes
Koonin, E. V., Kuhn, J. H., Dolja, V. V. & Krupovic, M. Megataxonomy and global ecology of the…
Multiplexed assays of variant effect for clinical variant interpretation
Chen, E. et al. Rates and classification of variants of uncertain significance in hereditary disease genetic testing. JAMA…
Machine learning reveals complex genetics of fungal resistance in sorghum grain mold
Ackerman A, Wenndt A, Boyles R (2021) The sorghum grain mold disease complex: pathogens, host responses, and the…
Therapeutic strategies for fragile X syndrome and implications for other gene-silencing disorders
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Artificial intelligence for diagnosing rare bone diseases: a global survey of healthcare professionals | Orphanet Journal of Rare Diseases
Of the 125 participants who began the survey (provided demographic information), 103 completed the survey and provided information…