Detalhe da pesquisa
1.
Long-read sequencing for molecular diagnostics in constitutional genetic disorders.
Hum Mutat
; 43(11): 1531-1544, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36086952
2.
Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results.
Genet Med
; 23(2): 323-330, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33077891
3.
A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1.
PLoS Genet
; 14(8): e1007532, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30102696
4.
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.
Hum Mutat
; 40(12): 2197-2220, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31343788
5.
Molecular Mechanisms Contributing to the Etiology of Congenital Diaphragmatic Hernia: A Review and Novel Cases.
J Pediatr
; 246: 251-265.e2, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35314152
6.
A Centralized Approach for Practicing Genomic Medicine.
Pediatrics
; 145(3)2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32102930
7.
NIPBL+/- haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states.
Sci Rep
; 8(1): 1056, 2018 01 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-29348408