Detalhe da pesquisa
1.
Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER.
Hum Mutat
; 36(10): 941-9, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26220709
2.
The Matchmaker Exchange: a platform for rare disease gene discovery.
Hum Mutat
; 36(10): 915-21, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26295439
3.
DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders.
Hum Mol Genet
; 21(R1): R37-44, 2012 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22962312
4.
Data deposition and annotation at the worldwide protein data bank.
Mol Biotechnol
; 42(1): 1-13, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19082769
5.
Data deposition and annotation at the worldwide protein data bank.
Methods Mol Biol
; 426: 81-101, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18542858
6.
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.
Nat Genet
; 47(11): 1363-9, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26437029