Detalhe da pesquisa
1.
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases.
Hum Mutat
; 40(9): 1373-1391, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31322791
2.
Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs).
J Clin Immunol
; 35(2): 227-33, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25677497
3.
Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantation.
J Clin Immunol
; 35(2): 135-46, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25627829
4.
Newborn screening for SCID identifies patients with ataxia telangiectasia.
J Clin Immunol
; 33(3): 540-9, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23264026
5.
CAGI6 ID-Challenge: Assessment of phenotype and variant predictions in 415 children with Neurodevelopmental Disorders (NDDs).
Res Sq
; 2023 Aug 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37577579
6.
Investigation of the causal etiology in a patient with T-B+NK+ immunodeficiency.
Front Immunol
; 13: 928252, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35967429
7.
Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing.
Int J Neonatal Screen
; 6(2)2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32802992
8.
The role of exome sequencing in newborn screening for inborn errors of metabolism.
Nat Med
; 26(9): 1392-1397, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32778825
9.
A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70.
J Exp Med
; 213(2): 155-65, 2016 Feb 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26783323