Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.

Akawi, Nadia

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. [electronic resource] - Nature genetics Nov 2015 - 1363-9 p. digital

Publication Type: Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1546-1718

10.1038/ng.3410 doi


Cell Cycle Proteins--genetics
Developmental Disabilities--classification
Exome--genetics
Family Health
Female
Genes, Recessive
Genetic Association Studies--methods
Genetic Predisposition to Disease--genetics
Genetic Variation
Genotype
Humans
Male
Matrix Metalloproteinases, Secreted--genetics
Pedigree
Phenotype
Protein-Arginine N-Methyltransferases--genetics
Sequence Analysis, DNA--methods
Ubiquitin-Protein Ligases--genetics
United Kingdom