Detalhe da pesquisa
1.
Genomic landscape of Down syndrome-associated acute lymphoblastic leukemia.
Blood
; 142(2): 172-184, 2023 07 13.
Artigo
Inglês
| MEDLINE | ID: mdl-37001051
2.
Pediatric Cancer Variant Pathogenicity Information Exchange (PeCanPIE): a cloud-based platform for curating and classifying germline variants.
Genome Res
; 29(9): 1555-1565, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31439692
3.
RNA-seq Fusion Detection in Clinical Oncology.
Adv Exp Med Biol
; 1361: 163-175, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35230688
4.
Estimated number of adult survivors of childhood cancer in United States with cancer-predisposing germline variants.
Pediatr Blood Cancer
; 67(2): e28047, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31736278
5.
A comprehensive approach to expression of L1 loci.
Nucleic Acids Res
; 45(5): e31, 2017 03 17.
Artigo
Inglês
| MEDLINE | ID: mdl-27899577
6.
The contribution of alu elements to mutagenic DNA double-strand break repair.
PLoS Genet
; 11(3): e1005016, 2015 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-25761216
7.
Reconstructing the population genetic history of the Caribbean.
PLoS Genet
; 9(11): e1003925, 2013 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-24244192
8.
Sequencing, identification and mapping of primed L1 elements (SIMPLE) reveals significant variation in full length L1 elements between individuals.
BMC Genomics
; 16: 220, 2015 Mar 21.
Artigo
Inglês
| MEDLINE | ID: mdl-25887476
9.
Rescuing Alu: recovery of new inserts shows LINE-1 preserves Alu activity through A-tail expansion.
PLoS Genet
; 8(8): e1002842, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-22912586
10.
Evaluating mitochondrial DNA variation in autism spectrum disorders.
Ann Hum Genet
; 77(1): 9-21, 2013 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-23130936
11.
Whole genome sequencing provides comprehensive genetic testing in childhood B-cell acute lymphoblastic leukaemia.
Leukemia
; 37(3): 518-528, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36658389
12.
The genomic landscape of pediatric acute lymphoblastic leukemia.
Nat Genet
; 54(9): 1376-1389, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-36050548
13.
Methylation profiling reveals novel molecular classes of rhabdomyosarcoma.
Sci Rep
; 11(1): 22213, 2021 11 15.
Artigo
Inglês
| MEDLINE | ID: mdl-34782706
14.
Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing.
Cancer Discov
; 11(12): 3008-3027, 2021 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34301788
15.
Primary bone sarcoma with BCOR internal tandem duplication.
Virchows Arch
; 476(6): 915-920, 2020 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-31900635
16.
Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily.
Hum Mutat
; 30(2): 204-11, 2009 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-18726952
17.
Alu repeats increase local recombination rates.
BMC Genomics
; 10: 530, 2009 Nov 16.
Artigo
Inglês
| MEDLINE | ID: mdl-19917129
18.
A genome-wide association study of autism reveals a common novel risk locus at 5p14.1.
Ann Hum Genet
; 73(Pt 3): 263-73, 2009 May.
Artigo
Inglês
| MEDLINE | ID: mdl-19456320
19.
Sample degradation leads to false-positive copy number variation calls in multiplex real-time polymerase chain reaction assays.
Anal Biochem
; 386(2): 288-90, 2009 Mar 15.
Artigo
Inglês
| MEDLINE | ID: mdl-19121619
20.
Identification of repeat structure in large genomes using repeat probability clouds.
Anal Biochem
; 380(1): 77-83, 2008 Sep 01.
Artigo
Inglês
| MEDLINE | ID: mdl-18541131