Detalhe da pesquisa
1.
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Am J Hum Genet
; 108(6): 1053-1068, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33909990
2.
Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.
Eur J Pediatr
; 182(6): 2683-2692, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36997769
3.
Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease.
Front Genet
; 14: 1304520, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38259611
4.
Medical costs of children admitted to the neonatal intensive care unit: The role and possible economic impact of WES in early diagnosis.
Eur J Med Genet
; 65(5): 104467, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35240323