Detalhe da pesquisa
1.
Spliceosome-targeted therapies trigger an antiviral immune response in triple-negative breast cancer.
Cell
; 184(2): 384-403.e21, 2021 01 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33450205
2.
Inhibition of YTHDF2 triggers proteotoxic cell death in MYC-driven breast cancer.
Mol Cell
; 81(15): 3048-3064.e9, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34216543
3.
The spliceosome is a therapeutic vulnerability in MYC-driven cancer.
Nature
; 525(7569): 384-8, 2015 Sep 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-26331541
4.
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Am J Hum Genet
; 92(2): 210-20, 2013 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23332918
5.
Clinical features associated with copy number variations of the 14q32 imprinted gene cluster.
Am J Med Genet A
; 167A(2): 345-53, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25756153
6.
Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH.
Genome Res
; 21(4): 535-44, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21383316
7.
Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.
BMC Med Genet
; 15: 64, 2014 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-24898207
8.
Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.
Hum Mutat
; 34(10): 1415-23, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23878096
9.
Investigation of NRXN1 deletions: clinical and molecular characterization.
Am J Med Genet A
; 161A(4): 717-31, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23495017
10.
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
Hum Mutat
; 33(4): 728-40, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22290657
11.
Referral patterns for microarray testing in prenatal diagnosis.
Prenat Diagn
; 32(4): 344-50, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22467165
12.
Referral patterns for microarray testing in prenatal diagnosis.
Prenat Diagn
; 32(6): 611, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22622835
13.
Engineering and Functional Characterization of Fusion Genes Identifies Novel Oncogenic Drivers of Cancer.
Cancer Res
; 77(13): 3502-3512, 2017 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28512244
14.
Clinical utility of chromosomal microarray analysis.
Pediatrics
; 130(5): e1085-95, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23071206
15.
Evaluation of chronic lymphocytic leukemia by oligonucleotide-based microarray analysis uncovers novel aberrations not detected by FISH or cytogenetic analysis.
Mol Cytogenet
; 4: 25, 2011 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-22087757
16.
Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH.
Mol Cytogenet
; 3: 11, 2010 Jun 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-20587050