Detalhe da pesquisa
1.
Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience.
Genet Med
; 18(12): 1303-1307, 2016 12.
Artigo
Inglês
| MEDLINE | ID: mdl-27253732
2.
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.
Genet Med
; 18(6): 608-17, 2016 06.
Artigo
Inglês
| MEDLINE | ID: mdl-26562225
3.
PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases.
Hum Mutat
; 36(10): 931-40, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-26251998
4.
York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.
Mol Genet Metab
; 114(3): 474-82, 2015 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-25577287
5.
Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.
Front Med (Lausanne)
; 4: 62, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-28603714
6.
Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.
Orphanet J Rare Dis
; 11(1): 62, 2016 05 14.
Artigo
Inglês
| MEDLINE | ID: mdl-27179618
7.
Distributed Cognition and Process Management Enabling Individualized Translational Research: The NIH Undiagnosed Diseases Program Experience.
Front Med (Lausanne)
; 3: 39, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-27785453