Detalhe da pesquisa
1.
Outcomes of infants receiving chronic peritoneal dialysis: an analysis of the USRDS registry.
Pediatr Nephrol
; 34(1): 155-162, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30141177
2.
Renal systems biology of patients with systemic inflammatory response syndrome.
Kidney Int
; 88(4): 804-14, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-25993322
3.
High Molecular Diagnosis Rate in Undermasculinized Males with Differences in Sex Development Using a Stepwise Approach.
Endocrinology
; 161(5)2020 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32010941
4.
The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants.
NPJ Genom Med
; 3: 6, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-29449963
5.
Erratum: Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences.
NPJ Genom Med
; 2: 16039, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-29266105
6.
Techniques and Approaches to Genetic Analyses in Nephrological Disorders.
J Pediatr Genet
; 5(1): 2-14, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-27617137
7.
Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences.
NPJ Genom Med
; 1: 15007, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-29263805
8.
Clinical detection of deletion structural variants in whole-genome sequences.
NPJ Genom Med
; 1: 16026, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-29263817
9.
Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders.
Cold Spring Harb Perspect Med
; 6(2): a023168, 2015 Dec 18.
Artigo
Inglês
| MEDLINE | ID: mdl-26684335
10.
Emergency medical genomes: a breakthrough application of precision medicine.
Genome Med
; 7(1): 82, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-26229553
11.
Rapid whole genome sequencing and precision neonatology.
Semin Perinatol
; 39(8): 623-31, 2015 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-26521050
12.
A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases.
Genome Med
; 7: 100, 2015 Sep 30.
Artigo
Inglês
| MEDLINE | ID: mdl-26419432
13.
Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.
Lancet Respir Med
; 3(5): 377-87, 2015 May.
Artigo
Inglês
| MEDLINE | ID: mdl-25937001
14.
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
Sci Transl Med
; 6(265): 265ra168, 2014 Dec 03.
Artigo
Inglês
| MEDLINE | ID: mdl-25473036