Detalhe da pesquisa
1.
DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data.
Annu Rev Genomics Hum Genet
; 24: 151-176, 2023 08 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37285546
2.
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
N Engl J Med
; 388(17): 1559-1571, 2023 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37043637
3.
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms.
Genet Med
; 26(2): 101029, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37982373
4.
DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research.
Hum Mutat
; 43(6): 682-697, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35143074
5.
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
6.
Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms.
medRxiv
; 2023 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37066232
7.
Registered access: authorizing data access.
Eur J Hum Genet
; 26(12): 1721-1731, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30069064