Detalhe da pesquisa
1.
Pathogenic Germline Variants in 10,389 Adult Cancers.
Cell
; 173(2): 355-370.e14, 2018 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29625052
2.
The origin and evolution of mutations in acute myeloid leukemia.
Cell
; 150(2): 264-78, 2012 Jul 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-22817890
3.
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).
Genet Med
; 24(5): 986-998, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35101336
4.
Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes.
Hum Mutat
; 39(11): 1542-1552, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311369
5.
Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community-driven standards.
Hum Mutat
; 39(11): 1721-1732, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311370
6.
Genomic heterogeneity of ALK fusion breakpoints in non-small-cell lung cancer.
Mod Pathol
; 31(5): 791-808, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29327716
7.
Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing.
Nature
; 481(7382): 506-10, 2012 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-22237025
8.
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).
Genet Med
; 24(9): 1991, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-36063163
9.
Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia.
N Engl J Med
; 368(22): 2059-74, 2013 05 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-23634996
10.
Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.
Am J Med Genet A
; 170(3): 583-93, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26601658
11.
Clinical next-generation sequencing in patients with non-small cell lung cancer.
Cancer
; 121(4): 631-9, 2015 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25345567
12.
Association Between Mutation Clearance After Induction Therapy and Outcomes in Acute Myeloid Leukemia.
JAMA
; 314(8): 811-22, 2015 Aug 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-26305651
13.
A phase 1/2 study of chemosensitization with the CXCR4 antagonist plerixafor in relapsed or refractory acute myeloid leukemia.
Blood
; 119(17): 3917-24, 2012 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-22308295
14.
Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement.
Am J Med Genet A
; 164A(5): 1118-26, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24458548
15.
Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders.
NPJ Genom Med
; 9(1): 15, 2024 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38409289
16.
Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions.
Am J Med Genet A
; 161A(4): 711-6, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23494996
17.
Duplication of 20p12.3 associated with familial Wolff-Parkinson-White syndrome.
Am J Med Genet A
; 161A(1): 137-44, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23239491
18.
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Hum Mutat
; 33(1): 165-79, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21948486
19.
Aberrantly resolved RAG-mediated DNA breaks in Atm-deficient lymphocytes target chromosomal breakpoints in cis.
Proc Natl Acad Sci U S A
; 106(43): 18339-44, 2009 Oct 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-19820166
20.
Best practices for the interpretation and reporting of clinical whole genome sequencing.
NPJ Genom Med
; 7(1): 27, 2022 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35395838