Search details
1.
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.
Article
in English
| MEDLINE | ID: mdl-35468749
2.
Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome.
N Engl J Med
; 384(22): 2159-2161, 2021 06 03.
Article
in English
| MEDLINE | ID: mdl-34077649
3.
Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU.
Pediatr Crit Care Med
; 20(11): 1007-1020, 2019 11.
Article
in English
| MEDLINE | ID: mdl-31246743
4.
MDS-associated somatic mutations and clonal hematopoiesis are common in idiopathic cytopenias of undetermined significance.
Blood
; 126(21): 2355-61, 2015 Nov 19.
Article
in English
| MEDLINE | ID: mdl-26429975
5.
ATM-dependent MiR-335 targets CtIP and modulates the DNA damage response.
PLoS Genet
; 9(5): e1003505, 2013 May.
Article
in English
| MEDLINE | ID: mdl-23696749
6.
Defective DNA double-strand break repair in pediatric systemic lupus erythematosus.
Arthritis Rheum
; 64(2): 568-78, 2012 Feb.
Article
in English
| MEDLINE | ID: mdl-21905016
7.
Common copy number variations in fifty radiosensitive cell lines.
Genomics
; 99(2): 96-100, 2012 Feb.
Article
in English
| MEDLINE | ID: mdl-22200558
8.
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.
Nat Commun
; 13(1): 4057, 2022 07 26.
Article
in English
| MEDLINE | ID: mdl-35882841
9.
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.
Article
in English
| MEDLINE | ID: mdl-35864190
10.
Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome.
Mol Genet Genomic Med
; 9(7): e1623, 2021 07.
Article
in English
| MEDLINE | ID: mdl-34076366
11.
Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease.
NPJ Genom Med
; 6(1): 29, 2021 Apr 22.
Article
in English
| MEDLINE | ID: mdl-33888711
12.
Functional Precision Medicine Identifies New Therapeutic Candidates for Medulloblastoma.
Cancer Res
; 80(23): 5393-5407, 2020 12 01.
Article
in English
| MEDLINE | ID: mdl-33046443
13.
Rapid flow cytometry-based structural maintenance of chromosomes 1 (SMC1) phosphorylation assay for identification of ataxia-telangiectasia homozygotes and heterozygotes.
Clin Chem
; 55(3): 463-72, 2009 Mar.
Article
in English
| MEDLINE | ID: mdl-19147735
14.
The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections.
Cold Spring Harb Mol Case Stud
; 4(3)2018 06.
Article
in English
| MEDLINE | ID: mdl-29549119
15.
Letter to the Editor: Biobanks and International Initiatives Are Playing a Critical Role in Redressing Historic Inadequacies in Biosample and Data Access from Underrepresented Minority Populations.
Biopreserv Biobank
; 20(5): 465-466, 2022 10.
Article
in English
| MEDLINE | ID: mdl-36301142
16.
Rapid whole-genome sequencing identifies a novel GABRA1 variant associated with West syndrome.
Cold Spring Harb Mol Case Stud
; 3(5)2017 Sep.
Article
in English
| MEDLINE | ID: mdl-28864462
17.
Publisher Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease.
NPJ Genom Med
; 6(1): 39, 2021 May 26.
Article
in English
| MEDLINE | ID: mdl-34039980
18.
Author Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease.
NPJ Genom Med
; 6(1): 38, 2021 May 26.
Article
in English
| MEDLINE | ID: mdl-34039997
19.
Post-irradiation phosphorylation of structural maintenance chromosome 1 (SMC1) is independent of the Fanconi protein pathway.
Int J Radiat Oncol Biol Phys
; 61(4): 1167-72, 2005 Mar 15.
Article
in English
| MEDLINE | ID: mdl-15752898
20.
Simultaneous presentation of 2 rare hereditary immunodeficiencies: IL-12 receptor beta1 deficiency and ataxia-telangiectasia.
J Allergy Clin Immunol
; 122(6): 1217-9, 2008 Dec.
Article
in English
| MEDLINE | ID: mdl-18718650