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A copy number variation morbidity map of developmental delay
Why is this work in the frame?
A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.
Canadian funderA Canadian agency funded it. The work may carry no Canadian affiliation at all.
No Canadian affiliation. An affiliation-only frame — the usual design — would never have seen this work. It is one of the works that make the case for inverting the frame.
Abstract
No abstract. This is not a gap in this database — OpenAlex has none either. 23.3% of the frame is in this state, and the screen finds HALF as much metaresearch here, so the absence is a measured bias rather than a missing field.
The record
- Venue
- Nature Genetics
- Topic
- Genomic variations and chromosomal abnormalities
- Field
- Biochemistry, Genetics and Molecular Biology
- Canadian institutions
- —
- Funders
- National Heart, Lung, and Blood InstituteCanadian Institutes of Health ResearchNational Institutes of HealthWellcome TrustEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentHoward Hughes Medical Institute
- Keywords
- Copy-number variationIntellectual disabilityAutismBiologyExome sequencingCandidate geneGeneticsEpilepsyCraniofacialComparative genomic hybridizationAutism spectrum disorderDevelopmental disorderExomePhenotypeGenomeGeneMedicineNeurosciencePsychiatry
- Has abstract in OpenAlex
- no