Detalhe da pesquisa
1.
Multi-parametric analysis of 57 SYNGAP1 variants reveal impacts on GTPase signaling, localization, and protein stability.
Am J Hum Genet
; 108(1): 148-162, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33308442
2.
The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms.
Am J Hum Genet
; 106(2): 143-152, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32032513
3.
ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research.
Hum Mutat
; 43(6): 743-759, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35224820
4.
Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort.
Clin Genet
; 96(3): 199-206, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31038196
5.
An RCOR1 loss-associated gene expression signature identifies a prognostically significant DLBCL subgroup.
Blood
; 125(6): 959-66, 2015 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25395426
6.
Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma.
Nature
; 476(7360): 298-303, 2011 Jul 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-21796119
7.
Interactive Exploration, Analysis, and Visualization of Complex Phenome-Genome Datasets with ASPIREdb.
Hum Mutat
; 37(8): 719-26, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27158917
8.
Meta-Analysis of Gene Expression Patterns in Animal Models of Prenatal Alcohol Exposure Suggests Role for Protein Synthesis Inhibition and Chromatin Remodeling.
Alcohol Clin Exp Res
; 40(4): 717-27, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26996386
9.
The E3 ubiquitin ligase UBR5 is recurrently mutated in mantle cell lymphoma.
Blood
; 121(16): 3161-4, 2013 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-23407552
10.
Mutational and structural analysis of diffuse large B-cell lymphoma using whole-genome sequencing.
Blood
; 122(7): 1256-65, 2013 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23699601
11.
Whole transcriptome sequencing reveals recurrent NOTCH1 mutations in mantle cell lymphoma.
Blood
; 119(9): 1963-71, 2012 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22210878
12.
TBL1XR1/TP63: a novel recurrent gene fusion in B-cell non-Hodgkin lymphoma.
Blood
; 119(21): 4949-52, 2012 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-22496164
13.
SETD1A variant-associated psychosis: A systematic review of the clinical literature and description of two new cases.
Prog Neuropsychopharmacol Biol Psychiatry
; 129: 110888, 2024 Feb 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37918557
14.
Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction.
Nat Commun
; 11(1): 2073, 2020 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32350270
15.
VariCarta: A Comprehensive Database of Harmonized Genomic Variants Found in Autism Spectrum Disorder Sequencing Studies.
Autism Res
; 12(12): 1728-1736, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31705629
16.
Correlation between the secondary structure of pre-mRNA introns and the efficiency of splicing in Saccharomyces cerevisiae.
BMC Genomics
; 9: 355, 2008 Jul 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-18664289
17.
Meta-Analysis of Gene Expression in Autism Spectrum Disorder.
Autism Res
; 8(5): 593-608, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25720351
18.
Transcriptome sequencing of the anterior cingulate in bipolar disorder: dysregulation of G protein-coupled receptors.
Am J Psychiatry
; 172(11): 1131-40, 2015 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26238605
19.
Recurrent somatic mutations of PTPN1 in primary mediastinal B cell lymphoma and Hodgkin lymphoma.
Nat Genet
; 46(4): 329-35, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24531327
20.
Gene expression-based model using formalin-fixed paraffin-embedded biopsies predicts overall survival in advanced-stage classical Hodgkin lymphoma.
J Clin Oncol
; 31(6): 692-700, 2013 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-23182984