Detalhe da pesquisa
1.
A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants.
Am J Hum Genet
; 105(4): 719-733, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31564432
2.
Severe Acute Respiratory Syndrome Coronavirus-2 Infection in Children With Liver Transplant and Native Liver Disease: An International Observational Registry Study.
J Pediatr Gastroenterol Nutr
; 72(6): 807-814, 2021 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33605666
3.
Hepatopulmonary Syndrome in an Adolescent With Insidious Hypoxia and Small Intrahepatic Portal Venous Shunts: Posttransplant Benefit From Sildenafil.
Pediatr Dev Pathol
; 23(6): 467-471, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32813578
4.
Ultra-rapid whole genome sequencing: A paradigm shift in the pre-transplant evaluation of neonatal acute liver failure.
Liver Transpl
; 29(1): 118-121, 2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35861277
5.
Decreased Pregnane X Receptor Expression in Children with Active Crohn's Disease.
Drug Metab Dispos
; 44(7): 1066-9, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27013401
6.
Distinguishing Autoimmune Hepatitis From Steatohepatitis in Adolescents With Obesity and Positive Screening Alanine Aminotransferase.
JPGN Rep
; 4(2): e292, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37200725
7.
A neonatal case of vascular ring with Alagille syndrome.
SAGE Open Med Case Rep
; 11: 2050313X231197321, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37667743
8.
A Novel Compound-Heterozygous Epithelial Cell Adhesion Molecule Mutation in Tufting Enteropathy.
J Pediatr Gastroenterol Nutr
; 64(1): e14-e16, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25383784
9.
Reply to letter to the editor in response to: Distinguishing autoimmune hepatitis from steatohepatitis in adolescents with obesity and positive screening alanine aminotransferase.
JPGN Rep
; 5(2): 240-241, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38756115
10.
Letter to the editor in response to: A case of pediatric alcohol-associated hepatitis evaluated for liver transplant listing.
JPGN Rep
; 5(2): 235, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38756136
11.
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy.
Nat Commun
; 10(1): 707, 2019 02 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30755602
12.
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation.
Sci Transl Med
; 11(489)2019 04 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31019026
13.
Biallelic Mismatch Repair Deficiency in an Adolescent Female.
Case Rep Genet
; 2018: 8657823, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30155321
14.
Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization.
NPJ Genom Med
; 3: 10, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29644095
15.
Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasis.
Cold Spring Harb Mol Case Stud
; 3(5)2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28550066