Detalhe da pesquisa
1.
Developmental and temporal characteristics of clonal sperm mosaicism.
Cell
; 184(18): 4772-4783.e15, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34388390
2.
Somatic mosaicism reveals clonal distributions of neocortical development.
Nature
; 604(7907): 689-696, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35444276
3.
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
4.
Identification of SARS-CoV-2 variants using viral sequencing for the Centers for Disease Control and Prevention genomic surveillance program.
BMC Infect Dis
; 22(1): 404, 2022 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35468749
5.
Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome.
N Engl J Med
; 384(22): 2159-2161, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34077649
6.
Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU.
Pediatr Crit Care Med
; 20(11): 1007-1020, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31246743
7.
Neonatal familial hemophagocytic lymphohistiocytosis diagnosed with ultrarapid whole-genome sequencing.
Pediatr Blood Cancer
; 70(1): e29871, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35796407
8.
MDS-associated somatic mutations and clonal hematopoiesis are common in idiopathic cytopenias of undetermined significance.
Blood
; 126(21): 2355-61, 2015 Nov 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-26429975
9.
ATM-dependent MiR-335 targets CtIP and modulates the DNA damage response.
PLoS Genet
; 9(5): e1003505, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23696749
10.
A new series of small molecular weight compounds induce read through of all three types of nonsense mutations in the ATM gene.
Mol Ther
; 21(9): 1653-60, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23774824
11.
Defective DNA double-strand break repair in pediatric systemic lupus erythematosus.
Arthritis Rheum
; 64(2): 568-78, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21905016
12.
Common copy number variations in fifty radiosensitive cell lines.
Genomics
; 99(2): 96-100, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22200558
13.
Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots.
NPJ Genom Med
; 8(1): 5, 2023 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36788231
14.
3D genome mapping identifies subgroup-specific chromosome conformations and tumor-dependency genes in ependymoma.
Nat Commun
; 14(1): 2300, 2023 04 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37085539
15.
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis.
Nat Genet
; 54(8): 1214-1226, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35864190
16.
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.
Nat Commun
; 13(1): 4057, 2022 07 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35882841
17.
Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome.
Mol Genet Genomic Med
; 9(7): e1623, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34076366
18.
Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease.
NPJ Genom Med
; 6(1): 29, 2021 Apr 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33888711
19.
Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system.
Cold Spring Harb Mol Case Stud
; 6(1)2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32014857
20.
Moving Genomics to Routine Care: An Initial Pilot in Acute Cardiovascular Disease.
Circ Genom Precis Med
; 13(5): 406-416, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32847406