Detalhe da pesquisa
1.
Rapid Genome Sequencing Diagnosis in Pediatric Patients with Liver Dysfunction.
J Pediatr
; 260: 113534, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37269902
2.
Vitamin D, bone density, and nephrocalcinosis in preterm infants: a prospective study.
Pediatr Nephrol
; 37(6): 1325-1332, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34595571
3.
Rapid genome diagnosis of alveolar capillary dysplasia leading to treatment in a child with respiratory and cardiac failure.
Cold Spring Harb Mol Case Stud
; 9(4)2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37586735
4.
Open-Source Artificial Intelligence System Supports Diagnosis of Mendelian Diseases in Acutely Ill Infants.
Children (Basel)
; 10(6)2023 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37371223
5.
A novel RAD51 variant resulting in Fanconi anemia identified in an infant with multiple congenital anomalies.
Clin Case Rep
; 11(1): e6810, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36698515
6.
Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning.
Genome Med
; 15(1): 18, 2023 03 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36927505
7.
On the edge-A diagnostic odyssey.
Clin Case Rep
; 10(4): e05688, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35425609
8.
Clin.iobio: A Collaborative Diagnostic Workflow to Enable Team-Based Precision Genomics.
J Pers Med
; 12(1)2022 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35055388
9.
Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.
Mol Genet Genomic Med
; 10(4): e1888, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35119225
10.
Addressing ethical and laboratory challenges for initiation of a rapid whole genome sequencing program.
J Clin Transl Sci
; 5(1): e177, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34849253
11.
Bronchopulmonary dysplasia severity and bone status in preterm infants.
Pediatr Pulmonol
; 59(6): 1826-1828, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38501323