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
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