Detalhe da pesquisa
1.
PITDB: a database of translated genomic elements.
Nucleic Acids Res
; 46(D1): D1223-D1228, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30053269
2.
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.
Lancet
; 385(9975): 1305-14, 2015 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25529582
3.
DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation.
Nucleic Acids Res
; 42(Database issue): D993-D1000, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24150940
4.
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
5.
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