New insights into genetic variant spectrum and genotype–phenotype
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The complex genetic architecture of Alzheimer's disease: novel insights and future directions - eBioMedicine
Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity - ScienceDirect
Deconstructing the sources of genotype-phenotype associations in humans
Hypophosphatasia: a genetic-based nosology and new insights in genotype- phenotype correlation
New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients - Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
Identifying interpretable gene-biomarker associations with functionally informed kernel-based tests in 190,000 exomes
Recent insights into the genotype–phenotype relationship from massively parallel genetic assays - Kemble - 2019 - Evolutionary Applications - Wiley Online Library
Expanding the phenotype half of the genotype−phenotype space
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Precision Medicine in Cardiovascular Disease: Genetics and Impact on Phenotypes: JACC Focus Seminar 1/5
Translating High-Throughput Phenotyping into Genetic Gain: Trends in Plant Science
How does genetic variation modify ND-CNV phenotypes?: Trends in Genetics
Common genetic variation associated with Mendelian disease severity revealed through cryptic phenotype analysis
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