TY  - GEN
AU  - Akawi,Nadia
AU  - McRae,Jeremy
AU  - Ansari,Morad
AU  - Balasubramanian,Meena
AU  - Blyth,Moira
AU  - Brady,Angela F
AU  - Clayton,Stephen
AU  - Cole,Trevor
AU  - Deshpande,Charu
AU  - Fitzgerald,Tomas W
AU  - Foulds,Nicola
AU  - Francis,Richard
AU  - Gabriel,George
AU  - Gerety,Sebastian S
AU  - Goodship,Judith
AU  - Hobson,Emma
AU  - Jones,Wendy D
AU  - Joss,Shelagh
AU  - King,Daniel
AU  - Klena,Nikolai
AU  - Kumar,Ajith
AU  - Lees,Melissa
AU  - Lelliott,Chris
AU  - Lord,Jenny
AU  - McMullan,Dominic
AU  - O'Regan,Mary
AU  - Osio,Deborah
AU  - Piombo,Virginia
AU  - Prigmore,Elena
AU  - Rajan,Diana
AU  - Rosser,Elisabeth
AU  - Sifrim,Alejandro
AU  - Smith,Audrey
AU  - Swaminathan,Ganesh J
AU  - Turnpenny,Peter
AU  - Whitworth,James
AU  - Wright,Caroline F
AU  - Firth,Helen V
AU  - Barrett,Jeffrey C
AU  - Lo,Cecilia W
AU  - FitzPatrick,David R
AU  - Hurles,Matthew E
TI  - Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families
SN  - 1546-1718
PY  - 2016///0307
KW  - Cell Cycle Proteins
KW  - genetics
KW  - Developmental Disabilities
KW  - classification
KW  - Exome
KW  - Family Health
KW  - Female
KW  - Genes, Recessive
KW  - Genetic Association Studies
KW  - methods
KW  - Genetic Predisposition to Disease
KW  - Genetic Variation
KW  - Genotype
KW  - Humans
KW  - Male
KW  - Matrix Metalloproteinases, Secreted
KW  - Pedigree
KW  - Phenotype
KW  - Protein-Arginine N-Methyltransferases
KW  - Sequence Analysis, DNA
KW  - Ubiquitin-Protein Ligases
KW  - United Kingdom
N1  - Publication Type: Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/ng.3410
ER  -