Detalhe da pesquisa
1.
KRAS and YAP1 converge to regulate EMT and tumor survival.
Cell
; 158(1): 171-84, 2014 Jul 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24954536
2.
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Am J Hum Genet
; 111(5): 863-876, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38565148
3.
ß-Catenin-driven cancers require a YAP1 transcriptional complex for survival and tumorigenesis.
Cell
; 151(7): 1457-73, 2012 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-23245941
4.
A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay.
Clin Genet
; 104(1): 73-80, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37005340
5.
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.
Genet Med
; 23(6): 1158-1162, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33531666
6.
Polymicrogyria is Associated With Pathogenic Variants in PTEN.
Ann Neurol
; 88(6): 1153-1164, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32959437
7.
ATARiS: computational quantification of gene suppression phenotypes from multisample RNAi screens.
Genome Res
; 23(4): 665-78, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23269662
8.
Unusual Behaviors in a 7-year-old Boy.
Pediatr Rev
; 42(Suppl 1): S122-S125, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33386381
9.
High-resolution detection of copy number alterations in single cells with HiScanner.
bioRxiv
; 2024 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38746445
10.
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
JAMA Netw Open
; 6(7): e2324380, 2023 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37471090
11.
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
JAMA Neurol
; 80(9): 980-988, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37486637
12.
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.
medRxiv
; 2023 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37873196
13.
Biallelic loss of EMC10 leads to mild to severe intellectual disability.
Ann Clin Transl Neurol
; 9(7): 1080-1089, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35684946
14.
Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis.
Dev Cell
; 57(20): 2381-2396.e13, 2022 10 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36228617
15.
Pivotal Advance: Th-1 cytokines inhibit, and Th-2 cytokines promote fibrocyte differentiation.
J Leukoc Biol
; 83(6): 1323-33, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18332234
16.
Characterizing genomic alterations in cancer by complementary functional associations.
Nat Biotechnol
; 34(5): 539-46, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27088724
17.
Reaction kinetics of the addition of atomic sulfur to nitric oxide.
J Chem Phys
; 121(20): 9999-10005, 2004 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-15549875